5978[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 1286888	NM_005612.5(REST):c.-9-281G>A	REST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1470279	NM_005612.5(REST):c.4G>A (p.Ala2Thr)	REST (A2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570344	NM_005612.5(REST):c.42G>A (p.Gly14=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522215	NM_005612.5(REST):c.43C>G (p.Leu15Val)	REST (L15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975293	NM_005612.5(REST):c.52A>G (p.Ser18Gly)	REST (S18G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285073	NM_005612.5(REST):c.52A>C (p.Ser18Arg)	REST (S18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2870693	NM_005612.5(REST):c.62A>G (p.Asn21Ser)	REST (N21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629540	NM_005612.5(REST):c.68G>A (p.Gly23Glu)	REST (G23E)	Single nucleotide variant (missense variant)	REST-related condition +1 more	GUncertain significance
Select item 1044084	NM_005612.5(REST):c.70A>G (p.Met24Val)	REST (M24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179580	NM_005612.5(REST):c.75C>T (p.Ala25=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179312	NM_005612.5(REST):c.85G>A (p.Asp29Asn)	REST (D29N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411012	NM_005612.5(REST):c.88A>G (p.Met30Val)	REST (M30V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418108	NM_005612.5(REST):c.89T>C (p.Met30Thr)	REST (M30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494722	NM_005612.5(REST):c.90G>T (p.Met30Ile)	REST (M30I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038400	NM_005612.5(REST):c.92A>G (p.Tyr31Cys)	REST (Y31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404692	NM_005612.5(REST):c.96_98dup (p.Asp32_Leu33insPhe)	REST	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1574439	NM_005612.5(REST):c.96C>T (p.Asp32=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897062	NM_005612.5(REST):c.101A>G (p.His34Arg)	REST (H34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1094717	NM_005612.5(REST):c.111C>G (p.Ser37=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365717	NM_005612.5(REST):c.124G>A (p.Ala42Thr)	REST (A42T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1597807	NM_005612.5(REST):c.129A>G (p.Ala43=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033506	NM_005612.5(REST):c.131C>G (p.Pro44Arg)	REST (P44R)	Single nucleotide variant (missense variant)	REST-related condition	GUncertain significance
Select item 2298793	NM_005612.5(REST):c.136C>G (p.Leu46Val)	REST (L46V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061215	NM_005612.5(REST):c.147G>A (p.Leu49=)	REST	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1156162	NM_005612.5(REST):c.150A>T (p.Ala50=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780471	NM_005612.5(REST):c.151A>G (p.Asn51Asp)	REST (N51D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253687	NM_005612.5(REST):c.157G>T (p.Ala53Ser)	REST (A53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169551	NM_005612.5(REST):c.171A>G (p.Glu57=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706886	NM_005612.5(REST):c.177_181del (p.Asn59fs)	REST (N59fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1152352	NM_005612.5(REST):c.183CTG[1] (p.Cys63del)	REST (C63del)	Microsatellite (inframe_deletion)	REST-related condition +1 more	GLikely benign
Select item 2888630	NM_005612.5(REST):c.201C>A (p.Val67=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2171042	NM_005612.5(REST):c.214C>A (p.Gln72Lys)	REST (Q72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802775	NM_005612.5(REST):c.216G>T (p.Gln72His)	REST (Q72H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079906	NM_005612.5(REST):c.222A>G (p.Ala74=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1803457	NM_005612.5(REST):c.232C>T (p.Pro78Ser)	REST (P78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165563	NM_005612.5(REST):c.234G>T (p.Pro78=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 998295	NM_005612.5(REST):c.238G>A (p.Gly80Arg)	REST (G80R)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 5	GUncertain significance
Select item 1059011	NM_005612.5(REST):c.239G>A (p.Gly80Glu)	REST (G80E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1581544	NM_005612.5(REST):c.258T>C (p.Asp86=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905693	NM_005612.5(REST):c.264A>G (p.Glu88=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 661428	NM_005612.5(REST):c.265dup (p.Glu89fs)	REST (E89fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2172802	NM_005612.5(REST):c.266A>G (p.Glu89Gly)	REST (E89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435178	NM_005612.5(REST):c.274G>T (p.Gly92Ter)	REST (G92*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 714280	NM_005612.5(REST):c.274G>A (p.Gly92Arg)	REST (G92R)	Single nucleotide variant (missense variant)	REST-related condition +1 more	GBenign/Likely benign
Select item 1673432	NM_005612.5(REST):c.282A>G (p.Glu94=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909135	NM_005612.5(REST):c.289G>A (p.Ala97Thr)	REST (A97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187341	NM_005612.5(REST):c.290C>T (p.Ala97Val)	REST (A97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185734	NM_005612.5(REST):c.293A>G (p.Asp98Gly)	REST (D98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625918	NM_005612.5(REST):c.294T>A (p.Asp98Glu)	REST (D98E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2883823	NM_005612.5(REST):c.296T>G (p.Ile99Arg)	REST (I99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039851	NM_005612.5(REST):c.296T>C (p.Ile99Thr)	REST (I99T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571361	NM_005612.5(REST):c.300A>G (p.Lys100=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 848158	NM_005612.5(REST):c.302G>A (p.Gly101Asp)	REST (G101D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2892233	NM_005612.5(REST):c.307C>A (p.Pro103Thr)	REST (P103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1407768	NM_005612.5(REST):c.308C>G (p.Pro103Arg)	REST (P103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181440	NM_005612.5(REST):c.315A>C (p.Gly105=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715539	NM_005612.5(REST):c.322A>G (p.Asn108Asp)	REST (N108D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130157	NM_005612.5(REST):c.324C>T (p.Asn108=)	REST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1637814	NM_005612.5(REST):c.336A>G (p.Arg112=)	REST	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1984642	NM_005612.5(REST):c.348C>T (p.Leu116=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716771	NM_005612.5(REST):c.351C>T (p.Ser117=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722035	NM_005612.5(REST):c.352G>C (p.Val118Leu)	REST (V118L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399158	NM_005612.5(REST):c.352G>A (p.Val118Ile)	REST (V118I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1160259	NM_005612.5(REST):c.354C>T (p.Val118=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555122	NM_005612.5(REST):c.363T>C (p.Pro121=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712906	NM_005612.5(REST):c.367C>G (p.Pro123Ala)	REST (P123A)	Single nucleotide variant (missense variant)	REST-related condition +1 more	GBenign/Likely benign
Select item 2889586	NM_005612.5(REST):c.370G>C (p.Val124Leu)	REST (V124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628435	NM_005612.5(REST):c.380C>T (p.Ala127Val)	REST (A127V)	Single nucleotide variant (missense variant)	REST-related condition	GUncertain significance
Select item 3025396	NM_005612.5(REST):c.385G>A (p.Gly129Ser)	REST (G129S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2176571	NM_005612.5(REST):c.386G>T (p.Gly129Val)	REST (G129V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700951	NM_005612.5(REST):c.387T>C (p.Gly129=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243596	NM_005612.5(REST):c.391C>A (p.Pro131Thr)	REST (P131T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179563	NM_005612.5(REST):c.408A>T (p.Ser136=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726617	NM_005612.5(REST):c.412A>G (p.Lys138Glu)	REST (K138E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2886408	NM_005612.5(REST):c.413A>G (p.Lys138Arg)	REST (K138R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418725	NM_005612.5(REST):c.416A>G (p.Asp139Gly)	REST (D139G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041077	NM_005612.5(REST):c.419T>G (p.Leu140Arg)	REST (L140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423378	NM_005612.5(REST):c.425del (p.Pro142fs)	REST (P142fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 847313	NM_005612.5(REST):c.422C>G (p.Pro141Arg)	REST (P141R)	Single nucleotide variant (missense variant)	REST-related condition +2 more	GUncertain significance
Select item 2177821	NM_005612.5(REST):c.423C>T (p.Pro141=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421995	NM_005612.5(REST):c.425C>G (p.Pro142Arg)	REST (P142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587932	NM_005612.5(REST):c.426T>C (p.Pro142=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839965	NM_005612.5(REST):c.440_441dup (p.Glu148fs)	REST (E148fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2616015	NM_005612.5(REST):c.440C>T (p.Ala147Val)	REST (A147V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1140445	NM_005612.5(REST):c.441G>A (p.Ala147=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 999724	NM_005612.5(REST):c.457A>G (p.Ser153Gly)	REST (S153G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589591	NM_005612.5(REST):c.459C>T (p.Ser153=)	REST	Single nucleotide variant (synonymous variant)	REST-related condition +1 more	GLikely benign
Select item 1545014	NM_005612.5(REST):c.495A>G (p.Gln165=)	REST	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1434276	NM_005612.5(REST):c.524T>C (p.Val175Ala)	REST (V175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943728	NM_005612.5(REST):c.527A>G (p.His176Arg)	REST (H176R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1154443	NM_005612.5(REST):c.528T>C (p.His176=)	REST	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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