CERKL[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 369320	NM_000885.6(ITGA4):c.*1134C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 332978	NM_201548.5(CERKL):c.1414_1417dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 898731	NM_201548.5(CERKL):c.*1371C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332979	NM_201548.5(CERKL):c.*1345G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 895763	NM_201548.5(CERKL):c.*1324G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332980	NM_201548.5(CERKL):c.*1216G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895764	NM_201548.5(CERKL):c.*1212A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895765	NM_201548.5(CERKL):c.*1207C>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332981	NM_201548.5(CERKL):c.*1159C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332982	NM_201548.5(CERKL):c.*1058T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332983	NM_201548.5(CERKL):c.*1045G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332984	NM_201548.5(CERKL):c.*1044C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 896046	NM_201548.5(CERKL):c.*1023G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 896047	NM_201548.5(CERKL):c.*979C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332985	NM_201548.5(CERKL):c.*954C>A	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332986	NM_201548.5(CERKL):c.*915C>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 332987	NM_201548.5(CERKL):c.*880G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332988	NM_201548.5(CERKL):c.*869C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332989	NM_201548.5(CERKL):c.*780T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332990	NM_201548.5(CERKL):c.*743G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332991	NM_201548.5(CERKL):c.*694dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 897632	NM_201548.5(CERKL):c.*573A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332992	NM_201548.5(CERKL):c.*567T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332993	NM_201548.5(CERKL):c.*473del	CERKL, ITGA4	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 332994	NM_201548.5(CERKL):c.*472A>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 332995	NM_201548.5(CERKL):c.*452G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332996	NM_201548.5(CERKL):c.*420G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 897633	NM_201548.5(CERKL):c.*347A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 332997	NM_201548.5(CERKL):c.*330C>T	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898798	NM_201548.5(CERKL):c.*306C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332998	NM_201548.5(CERKL):c.*295G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 332999	NM_000885.6(ITGA4):c.*2381C>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 898799	NM_201548.5(CERKL):c.*237G>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898800	NM_201548.5(CERKL):c.*160T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 333001	NM_201548.5(CERKL):c.*121C>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 333000	NM_201548.5(CERKL):c.*121delinsTGATTTTTCT	CERKL, ITGA4	Indel (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 333002	NM_201548.5(CERKL):c.*114A>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 333003	NM_201548.5(CERKL):c.*92G>C	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895833	NM_201548.5(CERKL):c.*77G>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895834	NM_201548.5(CERKL):c.*25G>T	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 939114	NM_201548.5(CERKL):c.1598A>T (p.Ter533Leu)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3028887	NM_201548.5(CERKL):c.1579_1596dup (p.Lys532_Ter533insGluGluMetIleProLys)	CERKL, ITGA4	Duplication (non-coding transcript variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 895835	NM_201548.5(CERKL):c.1596G>A (p.Lys532=)	CERKL, ITGA4	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1498205	NM_201548.5(CERKL):c.1577_1593dup (p.Lys532delinsTrpLysLysTer)	CERKL, ITGA4	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2752792	NM_201548.5(CERKL):c.1593A>C (p.Pro531=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2148897	NM_201548.5(CERKL):c.1553_1592dup (p.Lys532fs)	CERKL, ITGA4 (K419fs +4 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1651581	NM_201548.5(CERKL):c.1593A>T (p.Pro531=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2162987	NM_201548.5(CERKL):c.1592C>T (p.Pro531Leu)	ITGA4, CERKL (P418L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1058345	NM_201548.5(CERKL):c.1589T>C (p.Ile530Thr)	CERKL, ITGA4 (I417T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2155893	NM_201548.5(CERKL):c.1586del (p.Met529fs)	CERKL, ITGA4 (M460fs +4 more)	Deletion (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2066837	NM_201548.5(CERKL):c.1582G>T (p.Glu528Ter)	CERKL, ITGA4 (E459* +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 939497	NM_201548.5(CERKL):c.1567_1582del (p.Gly523fs)	ITGA4, CERKL (G505fs +4 more)	Deletion (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1134497	NM_201548.5(CERKL):c.1581A>G (p.Glu527=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2162884	NM_201548.5(CERKL):c.1579G>A (p.Glu527Lys)	ITGA4, CERKL (E414K +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1135812	NM_201548.5(CERKL):c.1569A>G (p.Gly523=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 866584	NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter)	ITGA4, CERKL (Y522* +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 425251	NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs)	CERKL, ITGA4 (G454fs +4 more)	Duplication (3 prime UTR variant +2 more)	Isolated macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 809115	NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp)	CERKL, ITGA4 (Y409D +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1902188	NM_201548.5(CERKL):c.1562T>C (p.Leu521Pro)	CERKL, ITGA4 (L503P +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1916231	NM_201548.5(CERKL):c.1555_1558dup (p.Ser520fs)	CERKL, ITGA4 (S407fs +4 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 26 +1 more	GLikely pathogenic
Select item 2018469	NM_201548.5(CERKL):c.1557C>A (p.Ile519=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1539020	NM_201548.5(CERKL):c.1557C>T (p.Ile519=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 333004	NM_201548.5(CERKL):c.1556T>C (p.Ile519Thr)	CERKL, ITGA4 (I406T +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1057829	NM_201548.5(CERKL):c.1553_1554dup (p.Ile519fs)	CERKL, ITGA4 (I406fs +4 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 522513	NM_201548.5(CERKL):c.1550_1554dup (p.Ile519fs)	CERKL, ITGA4 (I450fs +4 more)	Duplication (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2955674	NM_201548.5(CERKL):c.1554T>C (p.Leu518=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2018470	NM_201548.5(CERKL):c.1554T>G (p.Leu518=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2680667	NM_201548.5(CERKL):c.1539-16_1552inv	CERKL, ITGA4	Inversion (3 prime UTR variant +1 more)	Retinitis pigmentosa 26	GLikely pathogenic
Select item 1493830	NM_201548.5(CERKL):c.1552C>T (p.Leu518Phe)	CERKL, ITGA4 (L405F +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1474028	NM_201548.5(CERKL):c.1539-27_1550inv	CERKL, ITGA4	Inversion (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 895836	NM_201548.5(CERKL):c.1548A>C (p.Pro516=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 895837	NM_201548.5(CERKL):c.1543C>T (p.His515Tyr)	CERKL, ITGA4 (H402Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 1404882	NM_201548.5(CERKL):c.1541T>C (p.Leu514Ser)	CERKL, ITGA4 (L401S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1158933	NM_201548.5(CERKL):c.1540T>C (p.Leu514=)	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 986978	NM_000885.6(ITGA4):c.*2719T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 866275	NM_201548.5(CERKL):c.1539-3C>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2013742	NM_201548.5(CERKL):c.1539-9_1539-5dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1667110	NM_201548.5(CERKL):c.1539-5T>C	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1120443	NM_201548.5(CERKL):c.1539-5T>G	ITGA4, CERKL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 895838	NM_201548.5(CERKL):c.1539-5T>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 3020168	NM_201548.5(CERKL):c.1539-6T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1672663	NM_201548.5(CERKL):c.1539-9T>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1546669	NM_201548.5(CERKL):c.1539-13_1539-10dup	CERKL, ITGA4	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3020171	NM_201548.5(CERKL):c.1539-10T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2769874	NM_201548.5(CERKL):c.1539-11T>G	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1672664	NM_201548.5(CERKL):c.1539-11T>A	CERKL, ITGA4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign

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