VPS8[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
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 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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 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 732575	NM_001009921.3(VPS8):c.354-10T>C	VPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 737672	NM_001009921.3(VPS8):c.759A>G (p.Thr253=)	VPS8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 775929	NM_001009921.3(VPS8):c.1140A>G (p.Leu380=)	VPS8	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 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 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 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 719032	NM_001009921.3(VPS8):c.1747G>A (p.Val583Ile)	VPS8 (V583I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 720260	NM_001009921.3(VPS8):c.2412A>G (p.Gln804=)	VPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 712529	NM_001009921.3(VPS8):c.2857G>A (p.Glu953Lys)	VPS8 (E951K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 750775	NM_001009921.3(VPS8):c.2988+7A>G	VPS8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1267870	NM_001009921.3(VPS8):c.3036-13_3036-9del	VPS8	Deletion (intron variant)	not provided	GBenign
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 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 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 816788	NM_001009921.3(VPS8):c.3130G>A (p.Val1044Ile)	VPS8 (V1031I +4 more)	Single nucleotide variant (missense variant +1 more)	Flexion contracture	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 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 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 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 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 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 2654328	NM_001009921.3(VPS8):c.3435G>A (p.Pro1145=)	VPS8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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

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