ClinVar for Gene (Select 23355) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 143

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332313	NM_001009921.3(VPS8):c.2625A>T (p.Arg875Ser)	VPS8 (R302S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332312	NM_001009921.3(VPS8):c.2206C>A (p.Arg736Ser)	VPS8 (R136S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332311	NM_001009921.3(VPS8):c.2070G>A (p.Met690Ile)	VPS8 (M117I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332310	NM_001009921.3(VPS8):c.1613C>A (p.Ala538Asp)	VPS8 (A525D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332309	NM_001009921.3(VPS8):c.3215C>T (p.Thr1072Ile)	VPS8 (T1070I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332308	NM_001009921.3(VPS8):c.2816A>G (p.Tyr939Cys)	VPS8 (Y926C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332307	NM_001009921.3(VPS8):c.401G>A (p.Arg134His)	VPS8 (R134H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332306	NM_001009921.3(VPS8):c.3518C>T (p.Thr1173Ile)	VPS8 (T573I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332305	NM_001009921.3(VPS8):c.2761A>G (p.Lys921Glu)	VPS8 (K321E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332304	NM_001009921.3(VPS8):c.20A>G (p.His7Arg)	VPS8 (H7R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3332303	NM_001009921.3(VPS8):c.2063G>C (p.Arg688Thr)	VPS8 (R686T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332302	NM_001009921.3(VPS8):c.4202C>T (p.Ser1401Leu)	VPS8 (S828L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	GPathogenic
Select item 3189055	NM_001009921.3(VPS8):c.863T>G (p.Phe288Cys)	VPS8 (F275C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189054	NM_001009921.3(VPS8):c.833G>C (p.Gly278Ala)	VPS8 (G278A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189053	NM_001009921.3(VPS8):c.712A>G (p.Thr238Ala)	VPS8 (T238A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189052	NM_001009921.3(VPS8):c.3981G>C (p.Lys1327Asn)	VPS8 (K1314N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189051	NM_001009921.3(VPS8):c.3596A>T (p.Tyr1199Phe)	VPS8 (Y1199F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189050	NM_001009921.3(VPS8):c.3499G>A (p.Glu1167Lys)	VPS8 (E1167K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189049	NM_001009921.3(VPS8):c.3441G>A (p.Leu1147=)	VPS8	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3189048	NM_001009921.3(VPS8):c.3434C>T (p.Pro1145Leu)	VPS8 (P1143L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189047	NM_001009921.3(VPS8):c.3227T>C (p.Leu1076Ser)	VPS8 (L1074S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189046	NM_001009921.3(VPS8):c.2951T>A (p.Phe984Tyr)	VPS8 (F984Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189045	NM_001009921.3(VPS8):c.2881G>A (p.Ala961Thr)	VPS8 (A388T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189044	NM_001009921.3(VPS8):c.2603A>G (p.Asp868Gly)	VPS8 (D268G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189043	NM_001009921.3(VPS8):c.2492T>C (p.Val831Ala)	VPS8 (V818A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189042	NM_001009921.3(VPS8):c.2162T>C (p.Met721Thr)	VPS8 (M719T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189041	NM_001009921.3(VPS8):c.1690T>C (p.Cys564Arg)	VPS8 (C564R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189040	NM_001009921.3(VPS8):c.162C>G (p.Asp54Glu)	VPS8 (D54E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3189039	NM_001009921.3(VPS8):c.1295A>G (p.Gln432Arg)	VPS8 (Q419R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 3052512	NM_001009921.3(VPS8):c.2044A>G (p.Met682Val)	VPS8 (M109V +4 more)	Single nucleotide variant (missense variant +1 more)	VPS8-related disorder	GLikely benign
Select item 3035979	NM_001009921.3(VPS8):c.2917C>G (p.Pro973Ala)	VPS8 (P373A +4 more)	Single nucleotide variant (missense variant +1 more)	VPS8-related disorder	GLikely benign
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654328	NM_001009921.3(VPS8):c.3435G>A (p.Pro1145=)	VPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2621551	NM_001009921.3(VPS8):c.3596A>G (p.Tyr1199Cys)	VPS8 (Y1199C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617427	NM_001009921.3(VPS8):c.3971A>T (p.Glu1324Val)	VPS8 (E751V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605233	NM_001009921.3(VPS8):c.2572C>G (p.Gln858Glu)	VPS8 (Q858E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604634	NM_001009921.3(VPS8):c.2102T>G (p.Phe701Cys)	VPS8 (F688C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560017	NM_001009921.3(VPS8):c.2588T>G (p.Leu863Arg)	VPS8 (L861R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547787	NM_001009921.3(VPS8):c.2016G>T (p.Met672Ile)	VPS8 (M659I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544479	NM_001009921.3(VPS8):c.4214C>T (p.Pro1405Leu)	VPS8 (P832L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537347	NM_001009921.3(VPS8):c.4179G>C (p.Glu1393Asp)	VPS8 (E1380D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525265	NM_001009921.3(VPS8):c.4058G>A (p.Gly1353Glu)	VPS8 (G780E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523765	NM_001009921.3(VPS8):c.3617A>G (p.Glu1206Gly)	VPS8 (E1206G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523180	NM_001009921.3(VPS8):c.3097A>G (p.Ile1033Val)	VPS8 (I1020V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514482	NM_001009921.3(VPS8):c.757A>T (p.Thr253Ser)	VPS8 (T240S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492392	NM_001009921.3(VPS8):c.371A>G (p.Asp124Gly)	VPS8 (D124G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491857	NM_001009921.3(VPS8):c.2687T>A (p.Leu896His)	VPS8 (L296H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477950	NM_001009921.3(VPS8):c.3856T>C (p.Ser1286Pro)	VPS8 (S1286P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477484	NM_001009921.3(VPS8):c.3523C>G (p.Gln1175Glu)	VPS8 (Q1162E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411984	NM_001009921.3(VPS8):c.623A>G (p.Asn208Ser)	VPS8 (N195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408908	NM_001009921.3(VPS8):c.905A>G (p.His302Arg)	VPS8 (H289R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398647	NM_001009921.3(VPS8):c.913C>G (p.Pro305Ala)	VPS8 (P303A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394915	NM_001009921.3(VPS8):c.1817G>C (p.Ser606Thr)	VPS8 (S593T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392480	NM_001009921.3(VPS8):c.1228A>G (p.Ile410Val)	VPS8 (I410V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389983	NM_001009921.3(VPS8):c.3020G>T (p.Ser1007Ile)	VPS8 (S1005I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389982	NM_001009921.3(VPS8):c.3019A>C (p.Ser1007Arg)	VPS8 (S434R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389470	NM_001009921.3(VPS8):c.58G>A (p.Glu20Lys)	VPS8 (E20K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384482	NM_001009921.3(VPS8):c.400C>T (p.Arg134Cys)	VPS8 (R134C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381029	NM_001009921.3(VPS8):c.772C>G (p.Leu258Val)	VPS8 (L258V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379941	NM_001009921.3(VPS8):c.3406C>G (p.Gln1136Glu)	VPS8 (Q1136E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379176	NM_001009921.3(VPS8):c.3164G>A (p.Arg1055His)	VPS8 (R1042H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375712	NM_001009921.3(VPS8):c.709A>G (p.Ile237Val)	VPS8 (I235V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372895	NM_001009921.3(VPS8):c.589G>A (p.Gly197Ser)	VPS8 (G195S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372650	NM_001009921.3(VPS8):c.3826A>G (p.Ile1276Val)	VPS8 (I676V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351258	NM_001009921.3(VPS8):c.3912G>T (p.Trp1304Cys)	VPS8 (W1291C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348305	NM_001009921.3(VPS8):c.2675A>G (p.Glu892Gly)	VPS8 (E319G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346717	NM_001009921.3(VPS8):c.1034G>A (p.Arg345Gln)	VPS8 (R332Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345187	NM_001009921.3(VPS8):c.3289C>T (p.Leu1097Phe)	VPS8 (L1084F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341916	NM_001009921.3(VPS8):c.3383A>G (p.Gln1128Arg)	VPS8 (Q1128R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327888	NM_001009921.3(VPS8):c.4277C>A (p.Thr1426Asn)	VPS8 (T1426N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327110	NM_001009921.3(VPS8):c.716A>G (p.Asp239Gly)	VPS8 (D226G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323519	NM_001009921.3(VPS8):c.2795G>A (p.Arg932Gln)	VPS8 (R919Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318145	NM_001009921.3(VPS8):c.1274A>G (p.His425Arg)	VPS8 (H412R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315778	NM_001009921.3(VPS8):c.275T>C (p.Ile92Thr)	VPS8 (I92T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314131	NM_001009921.3(VPS8):c.674T>A (p.Met225Lys)	VPS8 (M212K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311833	NM_001009921.3(VPS8):c.1949A>C (p.Glu650Ala)	VPS8 (E50A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293287	NM_001009921.3(VPS8):c.284T>C (p.Ile95Thr)	VPS8 (I95T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291310	NM_001009921.3(VPS8):c.3553G>A (p.Ala1185Thr)	VPS8 (A1185T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282056	NM_001009921.3(VPS8):c.3478G>C (p.Ala1160Pro)	VPS8 (A560P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280774	NM_001009921.3(VPS8):c.2863C>G (p.Gln955Glu)	VPS8 (Q953E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275026	NM_001009921.3(VPS8):c.1861C>A (p.Pro621Thr)	VPS8 (P21T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266419	NM_001009921.3(VPS8):c.3668C>T (p.Thr1223Ile)	VPS8 (T1221I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262774	NM_001009921.3(VPS8):c.3937A>G (p.Asn1313Asp)	VPS8 (N1300D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250984	NM_001009921.3(VPS8):c.4051A>G (p.Lys1351Glu)	VPS8 (K1338E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239384	NM_001009921.3(VPS8):c.4114C>T (p.Arg1372Cys)	VPS8 (R1370C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238638	NM_001009921.3(VPS8):c.3068A>G (p.Gln1023Arg)	VPS8 (Q1023R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238637	NM_001009921.3(VPS8):c.193C>T (p.Pro65Ser)	VPS8 (P65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233812	NM_001009921.3(VPS8):c.2110A>G (p.Ile704Val)	VPS8 (I702V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231038	NM_001009921.3(VPS8):c.3802C>A (p.Arg1268Ser)	VPS8 (R1266S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228584	NM_001009921.3(VPS8):c.3121C>G (p.Pro1041Ala)	VPS8 (P1041A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226647	NM_001009921.3(VPS8):c.2203G>C (p.Gly735Arg)	VPS8 (G135R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2