AIPL1

aryl hydrocarbon receptor interacting protein like 1, the group of FKBP prolyl isomerases

Basic information

Region (hg38): 17:6393692-6435199

Previous symbols: [ "LCA4" ]

Links

ENSG00000129221

∙ NCBI:23746 ∙ OMIM:604392 ∙ HGNC:359 ∙ Uniprot:Q9NZN9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Leber congenital amaurosis 4 (Definitive), mode of inheritance: AR
Leber congenital amaurosis (Supportive), mode of inheritance: AD
Leber congenital amaurosis 4 (Strong), mode of inheritance: AR
AIPL1-related retinopathy (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Leber congenital amaurosis 4; Retinitis pigmentosa, juvenile, AIPL1-related; Cone-rod dystrophy, AIPL1-related	AD/AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Ophthalmologic	10711674; 10615133; 10873396; 21602930; 21900377; 21474771; 22412862

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AIPL1 gene.

Leber congenital amaurosis 4 (402 variants)
not provided (88 variants)
Retinitis pigmentosa (63 variants)
Retinitis Pigmentosa, Recessive (59 variants)
Retinitis Pigmentosa, Dominant (50 variants)
not specified (25 variants)
Leber congenital amaurosis (20 variants)
Inborn genetic diseases (15 variants)
Leber congenital amaurosis 4;Retinitis pigmentosa (8 variants)
Retinal dystrophy (7 variants)
Retinitis pigmentosa;Leber congenital amaurosis 4 (5 variants)
Leber congenital amaurosis 1 (3 variants)
AIPL1-Related Disorders (3 variants)
Juvenile retinitis pigmentosa, AIPL1-related (1 variants)
AIPL1-related condition (1 variants)
Cone-rod dystrophy 2 (1 variants)
CONE-ROD DYSTROPHY, AIPL1-RELATED (1 variants)
Lissencephaly due to TUBA1A mutation (1 variants)
Abnormality of the eye (1 variants)
Fraser syndrome 3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIPL1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			4 clinvar	75 clinvar	2 clinvar	81
missense	6 clinvar	8 clinvar	150 clinvar	5 clinvar	4 clinvar	173
nonsense	9 clinvar		1 clinvar			10
start loss	1 clinvar					1
frameshift	7 clinvar	4 clinvar	2 clinvar			13
inframe indel			4 clinvar			4
splice donor/acceptor (+/-2bp)	2 clinvar	3 clinvar				5
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)			12	4		16
non coding ? UTR, intron and other, non coding variants		1 clinvar	44 clinvar	44 clinvar	21 clinvar	110
Total	25	16	205	124	27

Highest pathogenic variant AF is 0.000368

Variants in AIPL1

This is a list of pathogenic ClinVar variants found in the AIPL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
17-6398241-A-AACTCCTAAGAGGAAGAAAACAGTCACATACAAAGGGTCAAGAATAATAATGACTTTTGTATATGTCATGTGTTGAATTGTGTTCCCTCCAAATTCATATGTTGAAGTTTTAACCCCAATACCTCAGAAGGAGGCCTTATTTGGAAACAGTCTTTGCAGATGTAATTGGTTAAGATGAGGTCACATTGGAGCAGGCTGGGCCCCTAATCCAATACAACTGGTGTCCTTATATAGAAGAGAAATCGATACACAGGCATGCACACAGGGGGATGCTATGTGAAGATGAAGGTGGAGATTGGGGTGATGCAGCAGAAGCCAAGGAAAATCAAAGAGAGCAGCAAACCCCTAGCAGCTAGGAGAAATGCACGGAACAGATTCTACCTTACGGTCCTCAGAAGGAACTGACCCTGCTGACATCTTGATCTTGGAATCATAGCCTCCAGAACTGTGAGACAATACATTGCTAGTTTTTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTGGTGGAGGGGAAACAGTTGGATTTTTTTGAGACAGGGTCTTTCCTTCTGTCTCAGGCTGGAGTGCAGTGGAGCAATCACCTCAACTTCCTGGGCTCAAGCAGCTCTCCCAACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTTGTAGAGACAGGGTCTCCCTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCTGCCCACCTCAACCTCCCAAAGCTCTAGGATTACAGGCATGAGCCGCCACACCCAGCCAAATTTATGTTGTTTAAACCAACCAGCTTGTGATACTTCGTTACAGCAGCCCTAGGGAAGGAATATATTATGTGAACAAATGAAGTGACCATAAAGAGCCACTTCAAAATTCTGCAAGTCATCTCTAATCTAGAATTCCATAACCAGCCAAATATCAGCAAAGTGTGAAAGCAAAATAAAGACATTTTCAGACATGTAGCATCTCAAAAAATAAGAACAACTCCCATGCACCTTTTCTTAGAAAGCTACTGGAGGATATACTACATCAAACAAAGGAGTAGATCAAGAAAGAGGAAGACTTAGGCTCCAGGAAACAAGGAATATAACACATAGGAGGCAAAAAGATGTCCCAGAATTGCAACTGGGAAGTAAGGCTGAAGACCAACTAGTCCAGACTAAAACAGTAGACTGTAAAAGGGCCAGAATCAGAAGGAAAAACATTAAAGACAGACAATAATTATCTAATTATTGACCATGTGGAAAATAATATTGAGAAGAATTTTATAATATCAAAGGAATATCTGGAAAACATCACTGACTGATGCCTAGAAAAGTCAGCAATGCATTGTTGGACAGTTATTTATTGAGCACCTTCTAGAGGCCTGGCACCATTCTAAGCACCGGGAACACAGCAGTATATAAAGCAGATAAAAAATCCCTGCCCTCATGCAGCATATGTTCTAGAGAAGGAAATCAGACAATAATGGAAATAAGTGAAATCTATAGCATATTAGATGATCATTGTGCTACAGAGAAAAATAAAGTGGGAATGGGGATGCCAGGATGAGGTTTGGGGTTCAGCTTTAGATAGTCAGGGAAGGCACCACAGCAAAAGTCCTGAAAAAGGAGAAGGAGGAAACCATGCAGATACCTGGGGAAGCAAATGCATAGCAAATGCAAAGTTTCTGCAAAGGGAGCATACCTAGCAGGTCAGGAAACACCAAGGAGGCTTCTGTGGCTGGAGTGGATTGAACCAGAGAAGGAGATTTGCATTGCAATAGAATAGAAGAGTGACATGATCTAACTTATCTTTTAAAACAGTCACTCCAGCTTCTGTGTTGAAATAGACTGTCAGGTAACAATGGTGGAAGTAGAGTGACCAATTATGAGGCAGATTGTAAGCATCTGGATGGGAGCCAATGGTGGCATGGGCTAAGGCACCAGCAGTGAGAGAGGGTAAGAGACAGATTGTGGCTGTGTTTTGCAGGTAGAGGTAACGAGAATTTGCCAAAATTGGATGTGGAGTGTAAGAGCAAGCAGAGAATCAGAGGAACTTCAAAGCACCTCGTCTGAACAGTTGCAGGCTGGAGTGACTGGTAGCTGGGCTAGAGAAAGATACAGGTGAATATTGTGGGGTGGTGGGGAGCATAGAGGATGTGCCTTAGGCATATTAAGAAAGCTTATCAGACACATGTGATGGTTGATATTAAGTGTCAACTTGACTGGATTGAAGGATGCCTAGATGGCTGGTAAAGTATTGTTTCTGGGTGTGTCTTTAAGGGTGTTACCAGAGAAGACTGACATTTGAGTCAGTGACCTGGGAGAGGAAGACCCACCCTCAATGTGGGTGGGCACCATCCAATCAGCTGCCAGTGCAGCTAGCACAAGGCAGGTGGAATAAGATGGGATAAACTTGCTTGCTGAGTCTTCTAGCTTTCATCTTTCTCCTGTGCTTGATGCTTTCTTCTGCTCCTCCTGCCCTTGGACATCAGACCCTAGTTTCTTCAGCCTTTGGACTCTGGGACTGCACCAGTGGCTTGCCAGGAGCTCTTGGTCCTTTGGCCTCAGACTGAAGGCTGCACCGCCAACTTCCCTGGTTTTGAGGCTTTTGGACTTGGACTGAGTCACTACCACCTTCTCTCTTCCCCAACTTGCAGATGGCCTATTGTGCGACTTTGCCTTGTAATCGTGTAAGCCAATTCTTAATGAACTGCCTTTCATATATTGATAGATCCTATTTGGTTCCGTCCCTCTGGAGAACCCTAACTAATACAACACCCAAGTGAAGAATTTGAGGTCATTGTGTACAGAGGTCTGGAGCACAAGGTAGGGGTGTGGGCAGATCATGAAAGTGGTCAGTAAGTTCTTGGTATTCAAAGCCATGGAGACAGGATGAGATTGAACAAAATAGGAGGAAAACAAAAACCCAAACAATTATGTGAAAAGAAGCCTCATCATATCGTATCGCTGGCTTGACAGTGAACAACAGTTATAGAGTCATAATAATTAGAAACACAAGATAGTGACTTAACCAAAATTGTGATGTCACTGTGCTGGGAAGATGGAAAAGTGAAGATGGAAAATAAAGAAAGAGCTGGGAGGTAAGATCTAAGATTGCCAATGCCTGGTCTTTATACTAGAAAAGAAACAGATCGTGTTGGAAATCTGTAACTCAAGACTGAGTAGTTAAAGATACGCCTGGTTCAGAGCAGGCTGAAAATTGCCCTAAAAGAAAGCACTGCAATTCCCTTTCCCTGTGCACTGAGCACCCTCAACAGCCCTGTCCAGACTTGTGGGTGGCCAGATCCCTGGAAGGAAAGGCGGGAGAGCTCTAGCTGGATAAATGGCACATTTCTGGCAATGTGATTGTGTGTATGCAGTAATTACTCAGCGATTGCAACTTCCAGCATTACTATTTAGGTAAATCTGTGTCAAGATGCTGTCTTTGTTCAGTGGCCTAATACCACTGTTGGACACATAGTTGAATAATTAAGTTGGAATTCATGTTTGGATATATATTAAAGGGTGTTATTCGTCCATTTTTGCATTGCTATAAAGACATATCTGAGACTGGGTAATTTATAAAGAAAAGAGGTTTAATTTGGCTCATGGTTCTGCAGACTGTATGGGAACCATGGCTGGGGAGGCCTCAGGAAACTTACAGTCATGGGAGAAGGCAAAGGGGAAGCAGGCAAGTCTTAAATGGCTGGAGCAGGAGGAGGAGGGAGTGGGGAAGGTGCTACACACTTCTAAACATCCAGATCTTGTGAGAACTCTATTATGAGAACACCAGCAAAGGGATAGTGCTAAACTCTTCATGGGGGATCCAGCCCCATGATCCAGTCACCTCCCACCAGGCCCCACCTCTAACAATGGAAATTATCATTGAACATGAGATTTGGGTGGGGACACAGATCCAAGCCATATCAAAGGGCTACTTTTGTTTTAAACATACCCTTTCTTCCATTACATGCTGATTGCCAGGAAGTTCATTCCCGAAAGAAGTACAACTTTTTTTCCTGTCATTCTGTGCTTTTCTGTGCTTTTTCAAGACTACGAACAGTTCTACAAGAGAAAAATAAACTTCAGAACTGCCTGAAACAAAATGTTATTATGAATTGGCCACTCAAGAAGAAGTGATGATGTGAGGTTTCAGGTTTTATTAACTTAAACCATTTGGTAGACGGATTTTCTTTTTTTTAATGAAACGCAGACCTGTGACTCATTGAGCTTCGCAGGGATAATGATCAAGAGATAACTGAATTTCTTCTTCCACTCTGTTTTCCAGCTTCACATATTTCTCTAAATAGATGTCCATGTTTTATTTCGTAATTTTGCTTTTCCTTTACTCAAAACCAGGATGGGCATTTCTTCCCCAAGTGAATTTTAACGCAGCTGCTGCAGGCTGCAGAATAAAACCCCGCTGGAGAAAGATGCTCCATTAAAGTAAGATTGAAGCCAAAATTGAAAATTGAGAGCTAATTTTTGTGTACCTTTTGAATGGATGCATTTTTTAAATTGGCAATTTGAAAAAGAATAAAATTGTTCAGAATATACAGTGCAATGGGAGAAAGCAGATTGGGCAGAATTCTTGTAATTCTAATTAGATGCATTCCCCTGTTTGAGATTTACTTACAGAGCAATCTTAGTTTTAATGGAAAGAAATGCTTATTGATGAATTTGATTGCTACTATGGATTCTTACTTGCCTTTCGTGGCTACAGGATGAAGCCTCACAAAATGGGAAGTTAGGGATCCAGGCGTAGAGTCCGTCTTCCTTGCTACCAACTGGAACTCTTGTGCCCAGAATGCAGTGGAATTTACTAAGAAATGCTAAATAGCTGTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCCTTCTAGAGGGAGGATCTTTCTTTCTTTCTACAGACAGGATCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTATCATAGCTCATTGCAGTCTAAAACTCCCAGGCACAAGCAGCCCTCCAGCTTCAGCCTCTTGAGTAGCTAAGATGATAAGTGTGTGCTACGATGCCTGGCATTTTTTTAAATGTATTTGTAGAGACAGCATCTCGCTATGTTGCCCAGGATGGTCTTGAACTCCCAGCCTGAAGTAATGTTACTTTAATTTAGATGTCCTGGGTAGTCCAAAGATAACTGGGAATTAATTTTTCACCATATTGAGGGACTGCTTGGAATTGCACCTGGAAGGCAATGATGTCATCAGCAGATGGCCCGTGGCTTACCTATTGCAAGGGTACCTGGGTATTCTCATCCTGGAAGTATGGGGTCCTCTATTTGAGATTTAAGTGGCTTTGCTGATCTGATTATTGGCAATGTGAATAGGAATATATGGACTGACATGGAAAGTATCAGTCTTGAGTAGCTTGAAAGTCAAGAATCTCATATGTTAAGGAGTAAAACATTTTGTAGGAGACCACTGAAAAATGGAAGGGCAAGAACAAAGATACAGATACAAGGATGATGAGAGAGAAAGGCAGAGATGTCATGTTAACTGAAGCATCTGTTTACATGGCCTATGAAGGAAGAGAACCCAGATAAGAGATTCTGGGGGATGAAGCTCAGGCCAAATCCTTGGCCTTAGTTTGCCCCTGGGTGTTGCTGACCTCTAAAAACTGCAGCTGAAATGGAAACAAATCTGTCCGAGATGTTTCTGTCCATCTGAGGTCTGTTCTTTTCGCCTGAGACCATCACCTTGATATATACCACCGTACTGTATTCGTTTTCTATGGCTATCCTAACAAATGTCCACAAACTTACTGGCTTAAAACAACGCAAATGTATTATCTTACAGTTCTGGAACTCAGAATCCCTAAAGGGGTCTCACTGGGCTAAGATCAAGATGTTGGCAGGGCTGCATTCCTTTCTGGAAGCTCTAGGGCTGAATTCTTGTCCTTGTTTTTTCCAGCCTGACCACATTTGTTAGCCAAGTCCTTCCCATGGTGCCATCTCTCTGGTTCTCCCTTAACCTATTCCCCTTTTAAGGACCGTCATGATTATGTTGGATCCACCCAACATATATTCCTACCTTAAGGTCAGCTGATTAGAAAACTTAATTCCAACTGCTACCTTAATTCTCCTTTGCCATGTAACCTGCCCTACTTGCAGGTTCTGGGGATTAGGACACGGGCATCTTTGGGAGGCCATGATTCTTGCCTACTATGGAGAATTCCAATTCCTGGACCACACCTCCCTCAAAGAAGTAGCTGAACCAGATATGGAGATGGGAAAGAGGATTTCTGGTGGCAAGTTCTATTGATGCTACTGACTGACACAGATGACTCTACCCATCTAGCGTCTCATCTGAAAGCCTAACAAAGGGATTCACCATGAAAAAAGAAAAACAAGATGGGAAATAGCACATAAAAAGTGAACACATAAAGAGAGTAAATGCATAAGAGAAGAATTTTTTTTTAATTTATTACACTTTAAGTTCTGGGATACATGTGCAGAACGTGCAGGTTTATTACATAGGTATAAACATGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTACATTAGGTATTTCTTCTAATGTTATCCCTCCCCTAGCCCCCAGACCCCCGGACAGCCCCAGTGTGTGATGTTCCCCACCCCACCTGTGTCCATGTGTTCTCATTGTTCAACTCCCACTTACGAGTGAGAACATGCGGTGTTTGGTTTTCTGTTCCTGTGTTAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGATATGAACTCATCCTTTTTTATGCATAGTATTCCATGGTGTATATGTGCCATATTTACTTTATCCAGTCTATCATTGATGGGCATTTGGGTTGGTTCTAAGTCTTTGCTATTGTGAACAGTGCCACAATAAACACCCCCAAAGCCTTCTTCATTCCTTTCAACACTGTGTCTCCCCATAATCAGATGTAGAACATCAGACACAAATCAACATTTTTACTTCGCCTCTGTGAACCTTAGTTTCCACATCGGTTTGATGGGGGAATAACACCTGGTATTACCAGGGTTACTTACTGGTGATCCCCTAGTAAGAAGGCAAACCCAATTGGTTGAAGAGTTCAGCAGTTTTTGCACTATATGCTACATTTATTATAGGCATTGACTTCACCGTCCTGATAAGAGCCTTGGTTTCCTCATCTGGAAACTGGGGATAATAATAATTCTCTACCTCATAGGGTAGGGAGGGCAGGTGGCACTTGCTTCTGATAGGTCCCTTCTTTCAAACAAGTCACCCTCTGATGATCAGTCATTGCCTAGTTGTCAATTCTCAGTCTCTCACACACACACGCACTTCCCGGCCTCCTTCCCTCTGCCCACAAGCAGGCATGGACTTCCCCTTCCGTGGTGGAGCATCCACGAGCCGGTTCTCTGCTCCCCTTCATTGGTGAGCTCCTCTAACCCACGGCCTCCACTATTCACCACTCCTCCCTCACTTACCAGTGTTTGCATTCTGTCTTTGGTCTGAAGCTAAGCTCCAGATCCTTCCCATGGCAACATAGCCTTGTAGCTCTCATTCTTCCTCACTTTTCCACGTGTTTGACTTGGCACAAGGCCACCTTCTCCTCCAGGTAAGACCACGCTGGGTCTTCAGCCTGACTAAGCTCCCCACTGGATTCTGAACTCCAGTGAGATCAAGAGGCAGTCTATCTCTCCCCTACCTCCGTAAACCCAGGGCCTCGGAACCTGGAATGCAGCAGGCTTTTAGCACCGCTCAACATGAATGAAGGGACAAATGAATTTATTCAACAGTTCATCACTCCCAGCTGGGGGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGTGGATCACCAGGAGTTCAAGAGCAGCCTGGTCAACATAGTGAAACTCCGTCTCTACTAAAATTACAAAAATTAGCCGGGCATGATGGTGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGAATTGCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATCATCACTCCCTGTAGCTGGGCTGATAAAACATAAAATTCCACTCCGGTTCCCTTGGGTGAGTGAGATGTTGAGAGACCACCACATACTGGTGAGGAGAACCAACCAATCACGGAGCAGACAGCTCTGTGAGATCCCATCGGGAAGCTCCGGGCCCTACCTGTCCTGTGTCCATCCCGTGAATGACCCACACATGTGCGGAGTGATCACTCATAAAGAAGGGGACAAGGGTAATTGGACCTGCGTCTGCTCTACCACGGACCTGCTGTGTGACCTTGGGAAAGGCCCATTTCCCACAGAGCCTGAGTCTTTTCTCCCTAAGGACCCGAGGCGGGCAGCCTGCCCACTTGGTTCTATGGGTGTTTTCCTTACTAAAAGGATCGGGGCTTGAACTCACCAGGGGAATCCTCAGCCAGATCACAGCCCCTGGGAAGTGGTGGGAAAGCAGGTGTCTGGAGGAAAGGATCAAGGCGGGCACCGTGAGACCCCACACCCAAGGAAAACCGGAGTTCAGGCTTTATCCAACGTGTTCCCTCCTAACAGTAGGGAGGGAAAAGGCCTCCTGGCCTCAGGTCAGAGAGGGAGTCAGGTCATTCCTACTGTTCCAAAGAACAGAGAAGTGGGCTCTGGTCTTACAGACTGGAGTAAGATGGGGAGGCTCTGGCTGCTGACTTCATCCCTCCACCAACAAGAGCTGCATCTGGTTTTATCCTGAATTACCCAAGAACAAGCACATCTTTCTACAAAGAGGACTCAAAGTGCTAAATGCAAATGTGATCCCAGCTTTGGCGTATTGGACTCCAGTGGAGCCTCTTGCATTCTGTGTGTACCCACTGTACATGTGGGTGTGTTGCCAGCCCAAATAATCCCGTTCTGCTATTGGAATCTATGCCCTTATAGGAGGAATGTCTCCCAGTCTATCCTACCACATCTCAAATAAAAGAGCAGGACTCCATGAGCTTGAATGCCAGTATTCATCACGGCACACTAACTACTGTAACCAACCACAAGAAAGATCTCAAAAGATCGTATTGGCTGGAAACAGTACAGGCTTTTCTCTGATTCATGTAACAGTTTTAAGAGTAGACCCTCAGTAATCTCAGCACTTTGGGAGGCCAAGGCTGGCAGATCACCAGAGGTCAGGAGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAGAAATTAGCCAGGCATGGTGGTTCACGCCTGTAATCCCAGCACACTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAACAACAAATAGCCGGGCTTGGTGGCATTCACCCGTAATCCCAGCTGCTTGGGAGGTTGAGGCAGGAGAATCACAGGAACCCAAGAGGTGGAGATTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTATTTAAAAAAAAAAAAAGAGTAGACCCCCGGGTGTCCAGGCTCCCTCCATGCTAGGGTTCCACTGTCTCACACAAAGGGCCTCACTGATACTTTGGCAACGTCAGTTACCAGGTAGGAAGGAATCATGAGAAGGGCTGCTAGGGCCAAGCCTTAAGCGGCATGCATCACTTCCACACT	Gestational diabetes mellitus uncontrolled	not provided (-)	157377
17-6423767-G-A	Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	889085
17-6423781-C-G	Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 4 • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	324567
17-6423802-A-G	Leber congenital amaurosis 4 • Retinitis pigmentosa • Retinitis Pigmentosa, Recessive	Benign/Likely benign (Jan 13, 2018)	324568
17-6423892-C-T	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Recessive • Retinitis Pigmentosa, Dominant	Likely benign (Jan 13, 2018)	324569
17-6423910-T-G	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Recessive • Retinitis Pigmentosa, Dominant	Uncertain significance (Jan 12, 2018)	324570
17-6423923-G-T	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Dominant • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	324571
17-6423926-C-T	Leber congenital amaurosis 4 • Retinitis pigmentosa • Retinitis Pigmentosa, Dominant	Uncertain significance (Jan 12, 2018)	324572
17-6423933-A-C	Retinitis pigmentosa • Leber congenital amaurosis 4	Uncertain significance (Jan 12, 2018)	891327
17-6423959-C-T	Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	891328
17-6424001-C-A	Retinitis pigmentosa • Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	324573
17-6424005-C-A	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Recessive • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	324574
17-6424016-C-T	Retinitis pigmentosa • Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	324575
17-6424027-T-A	Leber congenital amaurosis 4	Uncertain significance (Jan 12, 2018)	892520
17-6424062-C-T	Leber congenital amaurosis • Retinitis Pigmentosa, Dominant • Retinitis Pigmentosa, Recessive	Uncertain significance (Jun 14, 2016)	324576
17-6424069-G-A	Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 4 • Retinitis pigmentosa	Benign/Likely benign (Jan 13, 2018)	324577
17-6424125-T-G	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Recessive • Retinitis pigmentosa	Uncertain significance (Jan 13, 2018)	324578
17-6424171-C-T	Retinitis Pigmentosa, Recessive • Retinitis Pigmentosa, Dominant • Leber congenital amaurosis 4	Likely benign (Jan 13, 2018)	324579
17-6424172-G-A	Retinitis pigmentosa • Leber congenital amaurosis 4	Uncertain significance (Jan 12, 2018)	889159
17-6424221-G-A	Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	889840
17-6424223-G-A	Retinitis Pigmentosa, Dominant • Retinitis Pigmentosa, Recessive • Leber congenital amaurosis 4	Conflicting classifications of pathogenicity (Jan 12, 2018)	324580
17-6424231-G-A	Retinitis Pigmentosa, Dominant • Retinitis pigmentosa • Leber congenital amaurosis 4	Benign/Likely benign (Jan 12, 2018)	324581
17-6424258-G-A	Retinitis Pigmentosa, Recessive • Retinitis pigmentosa • Leber congenital amaurosis 4	Benign/Likely benign (Jan 13, 2018)	324582
17-6424282-G-A	Leber congenital amaurosis 4 • Retinitis Pigmentosa, Dominant • Retinitis Pigmentosa, Recessive	Conflicting classifications of pathogenicity (Jan 12, 2018)	324583
17-6424295-G-A	Retinitis Pigmentosa, Recessive • Retinitis pigmentosa • Leber congenital amaurosis 4	Uncertain significance (Jan 13, 2018)	324584

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIPL1	protein_coding	protein_coding	ENST00000381129	6	41507

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000122	0.838	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0794	235	238	0.986	0.0000165	2477
Missense in Polyphen		73	85.743	0.85138		931
Synonymous	0.306	100	104	0.962	0.00000796	757
Loss of Function	1.37	10	15.9	0.630	8.48e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000476	0.0000462
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000381	0.000381
South Asian	0.0000981	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: May be important in protein trafficking and/or protein folding and stabilization.;
Pathway: Cushing,s syndrome - Homo sapiens (human) (Consensus)

Recessive Scores

pRec: 0.106

Intolerance Scores

loftool: 0.0686
rvis_EVS: 1.64
rvis_percentile_EVS: 96.17

Haploinsufficiency Scores

pHI: 0.139
hipred: N
hipred_score: 0.292
ghis: 0.423

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.959

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Aipl1
Phenotype: vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: retina homeostasis;visual perception;phototransduction, visible light;protein farnesylation;regulation of rhodopsin mediated signaling pathway;negative regulation of apoptotic process
Cellular component: photoreceptor inner segment;nucleus;nucleoplasm;cytoplasm;cytosol
Molecular function: farnesylated protein binding;protein binding;unfolded protein binding