ClinVar for Gene (Select 113178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158221	NM_079834.4(SCAMP4):c.655G>A (p.Val219Met)	SCAMP4 (V185M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158220	NM_079834.4(SCAMP4):c.653C>G (p.Thr218Ser)	SCAMP4 (T174S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158219	NM_079834.4(SCAMP4):c.581C>T (p.Thr194Ile)	SCAMP4 (T150I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158218	NM_079834.4(SCAMP4):c.578G>A (p.Gly193Asp)	SCAMP4 (G193D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158217	NM_079834.4(SCAMP4):c.508A>G (p.Met170Val)	SCAMP4 (M126V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080713	NM_138422.4(ADAT3):c.925A>G (p.Met309Val)	ADAT3, SCAMP4 (M309V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080710	NM_138422.4(ADAT3):c.910C>T (p.Arg304Cys)	ADAT3, SCAMP4 (R288C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080707	NM_138422.4(ADAT3):c.908C>T (p.Thr303Ile)	ADAT3, SCAMP4 (T303I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080701	NM_138422.4(ADAT3):c.904G>A (p.Val302Met)	ADAT3, SCAMP4 (V286M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080688	NM_138422.4(ADAT3):c.820C>G (p.Gln274Glu)	ADAT3, SCAMP4 (Q258E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080684	NM_138422.4(ADAT3):c.802G>A (p.Ala268Thr)	ADAT3, SCAMP4 (A252T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080681	NM_138422.4(ADAT3):c.118G>T (p.Ala40Ser)	ADAT3, SCAMP4 (A40S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080672	NM_138422.4(ADAT3):c.739C>G (p.Leu247Val)	ADAT3, SCAMP4 (L247V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080664	NM_138422.4(ADAT3):c.718G>A (p.Ala240Thr)	ADAT3, SCAMP4 (A224T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080646	NM_138422.4(ADAT3):c.579G>A (p.Met193Ile)	ADAT3, SCAMP4 (M177I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080645	NM_138422.4(ADAT3):c.551A>C (p.Gln184Pro)	ADAT3, SCAMP4 (Q168P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080640	NM_138422.4(ADAT3):c.436G>A (p.Ala146Thr)	ADAT3, SCAMP4 (A130T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080616	NM_138422.4(ADAT3):c.278G>A (p.Arg93Gln)	ADAT3, SCAMP4 (R93Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080603	NM_138422.4(ADAT3):c.1100C>T (p.Thr367Met)	ADAT3, SCAMP4 (T367M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080597	NM_138422.4(ADAT3):c.1057C>T (p.Arg353Cys)	ADAT3, SCAMP4 (R337C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3064104	NM_138422.4(ADAT3):c.640G>A (p.Val214Met)	ADAT3, SCAMP4 (V198M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 3062395	GRCh37/hg19 19p13.3(chr19:1648089-2302433)x3	LINGO3, MIR1909 +21 more	Copy number gain	not specified	GUncertain significance
Select item 3062376	GRCh37/hg19 19p13.3(chr19:1773489-2186237)x3	ABHD17A, ADAT3 +13 more	Copy number gain	not specified	GUncertain significance
Select item 3039638	NM_138422.4(ADAT3):c.888T>G (p.Thr296=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	ADAT3-related disorder	GLikely benign
Select item 3025735	NM_138422.4(ADAT3):c.147C>T (p.Ser49=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024702	NM_138422.4(ADAT3):c.626GGGCCGTGG[1] (p.Gly212_Val214del)	ADAT3, SCAMP4	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2648952	NM_079834.4(SCAMP4):c.482C>T (p.Ser161Leu)	SCAMP4 (S117L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648951	NM_079834.4(SCAMP4):c.246G>A (p.Thr82=)	SCAMP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648950	NM_138422.4(ADAT3):c.867C>T (p.Asp289=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624247	NM_138422.4(ADAT3):c.304A>G (p.Ser102Gly)	ADAT3, SCAMP4 (S102G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618229	NM_138422.4(ADAT3):c.424G>A (p.Val142Met)	ADAT3, SCAMP4 (V126M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615617	NM_138422.4(ADAT3):c.87C>G (p.Cys29Trp)	ADAT3, SCAMP4 (C29W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607653	NM_079834.4(SCAMP4):c.604G>C (p.Glu202Gln)	SCAMP4 (E168Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600920	NM_138422.4(ADAT3):c.726G>A (p.Met242Ile)	ADAT3, SCAMP4 (M226I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597339	NM_138422.4(ADAT3):c.601C>T (p.Arg201Trp)	ADAT3, SCAMP4 (R201W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596524	NM_138422.4(ADAT3):c.161G>A (p.Gly54Glu)	ADAT3, SCAMP4 (G38E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539077	NM_138422.4(ADAT3):c.314C>G (p.Ala105Gly)	ADAT3, SCAMP4 (A89G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519848	NM_138422.4(ADAT3):c.56C>T (p.Pro19Leu)	ADAT3, SCAMP4 (P19L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502139	NM_138422.4(ADAT3):c.108G>C (p.Glu36Asp)	ADAT3, SCAMP4 (E20D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2502005	NM_138422.4(ADAT3):c.777C>A (p.Phe259Leu)	ADAT3, SCAMP4 (F243L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2470981	NM_079834.4(SCAMP4):c.563C>T (p.Thr188Met)	SCAMP4 (T144M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2438870	NM_138422.4(ADAT3):c.947A>C (p.His316Pro)	ADAT3, SCAMP4 (H300P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 2438869	NM_138422.4(ADAT3):c.874C>T (p.Pro292Ser)	ADAT3, SCAMP4 (P276S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2407904	NM_138422.4(ADAT3):c.1013G>A (p.Arg338His)	ADAT3, SCAMP4 (R322H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404993	NM_079834.4(SCAMP4):c.434C>T (p.Pro145Leu)	SCAMP4 (P111L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402604	NM_138422.4(ADAT3):c.706C>T (p.Pro236Ser)	ADAT3, SCAMP4 (P220S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392065	NM_079834.4(SCAMP4):c.166A>G (p.Ile56Val)	SCAMP4 (I56V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388411	NM_138422.4(ADAT3):c.803C>G (p.Ala268Gly)	ADAT3, SCAMP4 (A268G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375206	NM_079834.4(SCAMP4):c.214G>A (p.Gly72Ser)	SCAMP4 (G72S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365901	NM_079834.4(SCAMP4):c.502G>A (p.Ala168Thr)	SCAMP4 (A134T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354323	NM_138422.4(ADAT3):c.596C>T (p.Ala199Val)	ADAT3, SCAMP4 (A183V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349099	NM_138422.4(ADAT3):c.962G>C (p.Arg321Pro)	ADAT3, SCAMP4 (R305P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346490	NM_138422.4(ADAT3):c.181G>T (p.Ala61Ser)	ADAT3, SCAMP4 (A45S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2336014	NM_138422.4(ADAT3):c.251C>G (p.Pro84Arg)	ADAT3, SCAMP4 (P68R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322263	NM_138422.4(ADAT3):c.215C>T (p.Thr72Ile)	ADAT3, SCAMP4 (T56I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306126	NM_079834.4(SCAMP4):c.266G>C (p.Trp89Ser)	SCAMP4 (W45S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279143	NM_079834.4(SCAMP4):c.119T>G (p.Ile40Ser)	SCAMP4 (I40S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2278200	NM_079834.4(SCAMP4):c.412A>G (p.Ile138Val)	SCAMP4 (I94V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2277878	NM_138422.4(ADAT3):c.151A>C (p.Lys51Gln)	ADAT3, SCAMP4 (K51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2271516	NM_079834.4(SCAMP4):c.662G>T (p.Ser221Ile)	SCAMP4 (S187I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270733	NM_138422.4(ADAT3):c.78G>T (p.Gln26His)	ADAT3, SCAMP4 (Q26H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268397	NM_138422.4(ADAT3):c.529G>A (p.Ala177Thr)	ADAT3, SCAMP4 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256002	NM_138422.4(ADAT3):c.1025G>T (p.Arg342Leu)	ADAT3, SCAMP4 (R326L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242448	NM_079834.4(SCAMP4):c.608C>T (p.Ala203Val)	SCAMP4 (A203V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241899	NM_079834.4(SCAMP4):c.478G>A (p.Val160Met)	SCAMP4 (V126M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2233181	NM_138422.4(ADAT3):c.116C>T (p.Pro39Leu)	ADAT3, SCAMP4 (P23L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230222	NM_138422.4(ADAT3):c.676A>C (p.Thr226Pro)	ADAT3, SCAMP4 (T210P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221127	NM_138422.4(ADAT3):c.355C>A (p.Pro119Thr)	ADAT3, SCAMP4 (P103T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209258	NM_138422.4(ADAT3):c.701A>C (p.Asp234Ala)	ADAT3, SCAMP4 (D234A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1801365	NM_138422.4(ADAT3):c.551A>G (p.Gln184Arg)	ADAT3, SCAMP4 (Q168R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1801364	NM_138422.4(ADAT3):c.545C>T (p.Ser182Phe)	SCAMP4, ADAT3 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1709672	NM_138422.4(ADAT3):c.877T>A (p.Tyr293Asn)	ADAT3, SCAMP4 (Y277N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1709098	NM_138422.4(ADAT3):c.875C>T (p.Pro292Leu)	ADAT3, SCAMP4 (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome +1 more	GUncertain significance
Select item 1709097	NM_138422.4(ADAT3):c.292C>G (p.Arg98Gly)	ADAT3, SCAMP4 (R82G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1707447	NM_138422.4(ADAT3):c.427C>G (p.Pro143Ala)	ADAT3, SCAMP4 (P127A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 1699079	NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys)	ADAT3, SCAMP4 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1338367	NM_138422.4(ADAT3):c.436_446del (p.Ala146fs)	ADAT3, SCAMP4 (A130fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1337582	NM_138422.4(ADAT3):c.444G>A (p.Pro148=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	ADAT3-related disorder +2 more	GLikely benign
Select item 1337386	NM_138422.4(ADAT3):c.922G>A (p.Ala308Thr)	ADAT3, SCAMP4 (A292T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1337385	NM_138422.4(ADAT3):c.626G>A (p.Arg209Gln)	ADAT3, SCAMP4 (R193Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336464	NM_138422.4(ADAT3):c.67C>T (p.Leu23Phe)	ADAT3, SCAMP4 (L23F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336111	NM_138422.4(ADAT3):c.362C>T (p.Ser121Leu)	ADAT3, SCAMP4 (S105L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1334061	NM_138422.4(ADAT3):c.941T>C (p.Leu314Pro)	ADAT3, SCAMP4 (L298P +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1334060	NM_138422.4(ADAT3):c.482_487dup (p.His161_Trp162dup)	ADAT3, SCAMP4	Duplication (inframe_insertion +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1331555	NM_138422.4(ADAT3):c.24_37del (p.Pro10fs)	ADAT3, SCAMP4 (P10fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1304627	NM_138422.4(ADAT3):c.973G>C (p.Gly325Arg)	ADAT3, SCAMP4 (G309R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1288534	NM_138422.4(ADAT3):c.940C>T (p.Leu314=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	ADAT3-related disorder +1 more	GBenign
Select item 1185542	NM_138422.4(ADAT3):c.888T>C (p.Thr296=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability-strabismus syndrome +1 more	GBenign
Select item 1033078	NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu)	ADAT3, SCAMP4 (D299E +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1032418	NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly)	ADAT3, SCAMP4 (A97G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1032417	NM_138422.4(ADAT3):c.1001G>T (p.Gly334Val)	ADAT3, SCAMP4 (G318V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 1029127	NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp)	ADAT3, SCAMP4 (E2D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 992199	NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu)	ADAT3, SCAMP4 (P253L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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