ITGA4[gene] - 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 2651732	NM_000885.6(ITGA4):c.45C>A (p.Ala15=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2531832	NM_000885.6(ITGA4):c.82G>T (p.Val28Phe)	ITGA4, LOC129935209 (V28F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263436	NM_000885.6(ITGA4):c.124C>G (p.Leu42Val)	ITGA4, LOC129935209 (L42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264500	NM_000885.6(ITGA4):c.220G>A (p.Ala74Thr)	ITGA4 (A74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308556	NM_000885.6(ITGA4):c.298A>G (p.Thr100Ala)	ITGA4 (T100A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559249	NM_000885.6(ITGA4):c.323G>A (p.Ser108Asn)	ITGA4 (S108N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249062	NM_000885.6(ITGA4):c.394T>C (p.Ser132Pro)	ITGA4 (S132P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533026	NM_000885.6(ITGA4):c.462A>G (p.Ile154Met)	ITGA4 (I154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 748836	NM_000885.6(ITGA4):c.546G>A (p.Pro182=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785982	NM_000885.6(ITGA4):c.754+10A>C	ITGA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 764855	NM_000885.6(ITGA4):c.795T>C (p.Thr265=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1270155	NM_000885.6(ITGA4):c.841-15T>C	ITGA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 723359	NM_000885.6(ITGA4):c.1042-6A>G	ITGA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057404	NM_000885.6(ITGA4):c.1074C>T (p.Leu358=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related condition	GLikely benign
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 712364	NM_000885.6(ITGA4):c.1339+7A>G	ITGA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044797	NM_000885.6(ITGA4):c.1340-8T>A	ITGA4	Single nucleotide variant (intron variant)	ITGA4-related condition	GLikely benign
Select item 2337450	NM_000885.6(ITGA4):c.1449A>C (p.Lys483Asn)	ITGA4 (K483N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2340082	NM_000885.6(ITGA4):c.1501T>C (p.Cys501Arg)	ITGA4 (C501R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2651733	NM_000885.6(ITGA4):c.1582G>C (p.Glu528Gln)	ITGA4 (E528Q)	Single nucleotide variant (missense variant)	ITGA4-related condition +1 more	GBenign/Likely benign
Select item 3035985	NM_000885.6(ITGA4):c.1639A>G (p.Ser547Gly)	ITGA4 (S547G)	Single nucleotide variant (missense variant)	ITGA4-related condition	GUncertain significance
Select item 2245156	NM_000885.6(ITGA4):c.1766G>A (p.Ser589Asn)	ITGA4 (S589N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 712365	NM_000885.6(ITGA4):c.1833A>C (p.Ile611=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282370	NM_000885.6(ITGA4):c.1844C>T (p.Thr615Ile)	ITGA4 (T615I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 709073	NM_000885.6(ITGA4):c.1900T>A (p.Ser634Thr)	ITGA4 (S634T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 2612033	NM_000885.6(ITGA4):c.1979A>G (p.Asn660Ser)	ITGA4 (N660S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608491	NM_000885.6(ITGA4):c.1982T>C (p.Val661Ala)	ITGA4 (V661A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044366	NM_000885.6(ITGA4):c.2019G>A (p.Thr673=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related condition	GLikely benign
Select item 711307	NM_000885.6(ITGA4):c.2037A>C (p.Leu679=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2354675	NM_000885.6(ITGA4):c.2213C>T (p.Ala738Val)	ITGA4 (A738V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731075	NM_000885.6(ITGA4):c.2214G>A (p.Ala738=)	ITGA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463590	NM_000885.6(ITGA4):c.2221G>T (p.Asp741Tyr)	ITGA4 (D741Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276596	NM_000885.6(ITGA4):c.2353A>G (p.Thr785Ala)	ITGA4 (T785A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218473	NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala)	ITGA4 (V824A)	Single nucleotide variant (missense variant)	ITGA4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 730668	NM_000885.6(ITGA4):c.2539-10G>T	ITGA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2210406	NM_000885.6(ITGA4):c.2584G>T (p.Ala862Ser)	ITGA4 (A862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288726	NM_000885.6(ITGA4):c.2684C>T (p.Pro895Leu)	ITGA4 (P895L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524754	NM_000885.6(ITGA4):c.2710T>C (p.Phe904Leu)	ITGA4 (F904L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362752	NM_000885.6(ITGA4):c.2857C>G (p.Leu953Val)	ITGA4 (L953V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354823	NM_000885.6(ITGA4):c.2879C>T (p.Ala960Val)	ITGA4 (A960V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052620	NM_000885.6(ITGA4):c.2880G>A (p.Ala960=)	ITGA4	Single nucleotide variant (synonymous variant)	ITGA4-related condition	GLikely benign
Select item 715759	NM_000885.6(ITGA4):c.2884-7C>G	ITGA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2536214	NM_000885.6(ITGA4):c.2902C>T (p.His968Tyr)	ITGA4 (H968Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280113	NM_000885.6(ITGA4):c.2906A>G (p.His969Arg)	ITGA4 (H969R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328949	NM_000885.6(ITGA4):c.2950A>G (p.Ser984Gly)	ITGA4 (S984G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267204	NM_000885.6(ITGA4):c.2968A>G (p.Ile990Val)	ITGA4 (I990V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030704	NM_000885.6(ITGA4):c.3004-11_3004-3dup	ITGA4	Duplication (intron variant)	ITGA4-related condition	GLikely benign
Select item 2251882	NM_000885.6(ITGA4):c.3023A>G (p.Gln1008Arg)	ITGA4 (Q1008R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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