ClinVar for Gene (Select 10147) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323574	NM_001017392.5(SUGP2):c.544G>A (p.Glu182Lys)	LOC126862878, SUGP2 (E182K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323573	NM_001017392.5(SUGP2):c.2768G>C (p.Gly923Ala)	SUGP2 (G923A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323572	NM_001017392.5(SUGP2):c.2249G>T (p.Ser750Ile)	SUGP2 (S764I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323571	NM_001017392.5(SUGP2):c.1153A>G (p.Ile385Val)	SUGP2 (I385V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323570	NM_001017392.5(SUGP2):c.1742G>C (p.Arg581Pro)	SUGP2 (R595P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323568	NM_001017392.5(SUGP2):c.377G>A (p.Arg126Gln)	LOC126862878, SUGP2 (R140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323567	NM_001017392.5(SUGP2):c.646C>G (p.Leu216Val)	LOC126862878, SUGP2 (L216V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172000	NM_001017392.5(SUGP2):c.958G>A (p.Asp320Asn)	LOC126862878, SUGP2 (D334N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171999	NM_001017392.5(SUGP2):c.955A>G (p.Ile319Val)	LOC126862878, SUGP2 (I333V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171998	NM_001017392.5(SUGP2):c.951C>G (p.Asp317Glu)	LOC126862878, SUGP2 (D331E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171997	NM_001017392.5(SUGP2):c.566G>A (p.Arg189Gln)	LOC126862878, SUGP2 (R189Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171996	NM_001017392.5(SUGP2):c.521G>A (p.Gly174Glu)	LOC126862878, SUGP2 (G174E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171995	NM_001017392.5(SUGP2):c.394C>T (p.Arg132Cys)	LOC126862878, SUGP2 (R132C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171994	NM_001017392.5(SUGP2):c.3166G>A (p.Gly1056Arg)	SUGP2 (G1070R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171993	NM_001017392.5(SUGP2):c.2971C>T (p.Arg991Cys)	SUGP2 (R991C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171992	NM_001017392.5(SUGP2):c.28A>G (p.Thr10Ala)	SUGP2 (T24A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171991	NM_001017392.5(SUGP2):c.2834G>T (p.Gly945Val)	SUGP2 (G959V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171990	NM_001017392.5(SUGP2):c.2776G>A (p.Gly926Ser)	SUGP2 (G926S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171989	NM_001017392.5(SUGP2):c.2383G>A (p.Val795Ile)	SUGP2 (V795I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171988	NM_001017392.5(SUGP2):c.2344A>G (p.Met782Val)	SUGP2 (M782V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171987	NM_001017392.5(SUGP2):c.1994G>A (p.Arg665Gln)	SUGP2 (R665Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171986	NM_001017392.5(SUGP2):c.1642G>A (p.Glu548Lys)	SUGP2 (E548K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171985	NM_001017392.5(SUGP2):c.143G>T (p.Arg48Ile)	LOC126862878, SUGP2 (R48I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171984	NM_001017392.5(SUGP2):c.1376T>A (p.Leu459His)	SUGP2 (L459H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171983	NM_001017392.5(SUGP2):c.107A>T (p.Gln36Leu)	SUGP2 (Q50L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2619955	NM_001017392.5(SUGP2):c.2945G>A (p.Arg982Gln)	SUGP2 (R996Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613446	NM_001017392.5(SUGP2):c.319T>C (p.Cys107Arg)	LOC126862878, SUGP2 (C107R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611904	NM_001017392.5(SUGP2):c.2675C>T (p.Pro892Leu)	SUGP2 (P892L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599748	NM_001017392.5(SUGP2):c.2573C>T (p.Thr858Met)	SUGP2 (T872M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570016	NM_001017392.5(SUGP2):c.2038C>T (p.Arg680Trp)	SUGP2 (R694W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553627	NM_001017392.5(SUGP2):c.3013G>A (p.Ala1005Thr)	SUGP2 (A1005T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550413	NM_001017392.5(SUGP2):c.3031G>A (p.Asp1011Asn)	SUGP2 (D1011N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547159	NM_001017392.5(SUGP2):c.2144G>A (p.Arg715Gln)	SUGP2 (R715Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536189	NM_001017392.5(SUGP2):c.931A>G (p.Arg311Gly)	LOC126862878, SUGP2 (R311G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533682	NM_001017392.5(SUGP2):c.124C>A (p.Leu42Ile)	LOC126862878, SUGP2 (L42I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531424	NM_001017392.5(SUGP2):c.2180T>C (p.Leu727Pro)	SUGP2 (L741P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521433	NM_001017392.5(SUGP2):c.1736C>T (p.Pro579Leu)	SUGP2 (P593L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508603	NM_001017392.5(SUGP2):c.2354T>C (p.Met785Thr)	SUGP2 (M785T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492891	NM_001017392.5(SUGP2):c.186A>C (p.Arg62Ser)	LOC126862878, SUGP2 (R62S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479112	NM_001017392.5(SUGP2):c.1637A>G (p.Lys546Arg)	SUGP2 (K546R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463367	NM_001017392.5(SUGP2):c.2050C>T (p.Arg684Cys)	SUGP2 (R698C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2407079	NM_001017392.5(SUGP2):c.2629G>A (p.Glu877Lys)	SUGP2 (E891K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403372	NM_001017392.5(SUGP2):c.1714A>G (p.Ser572Gly)	SUGP2 (S572G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400732	NM_001017392.5(SUGP2):c.641G>A (p.Arg214Gln)	LOC126862878, SUGP2 (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386474	NM_001017392.5(SUGP2):c.156G>C (p.Glu52Asp)	LOC126862878, SUGP2 (E66D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2381666	NM_001017392.5(SUGP2):c.2735C>T (p.Ala912Val)	SUGP2 (A912V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371033	NM_001017392.5(SUGP2):c.2569A>G (p.Thr857Ala)	SUGP2 (T871A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367600	NM_001017392.5(SUGP2):c.2704G>A (p.Gly902Arg)	SUGP2 (G902R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360343	NM_001017392.5(SUGP2):c.2764G>A (p.Asp922Asn)	SUGP2 (D922N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356420	NM_001017392.5(SUGP2):c.2972G>A (p.Arg991His)	SUGP2 (R1005H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335773	NM_001017392.5(SUGP2):c.555G>T (p.Glu185Asp)	LOC126862878, SUGP2 (E185D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334473	NM_001017392.5(SUGP2):c.827C>T (p.Pro276Leu)	LOC126862878, SUGP2 (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329134	NM_001017392.5(SUGP2):c.1390G>C (p.Asp464His)	SUGP2 (D464H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296152	NM_001017392.5(SUGP2):c.2686G>A (p.Asp896Asn)	SUGP2 (D896N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296151	NM_001017392.5(SUGP2):c.1554A>T (p.Glu518Asp)	SUGP2 (E518D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289423	NM_001017392.5(SUGP2):c.764T>A (p.Ile255Lys)	LOC126862878, SUGP2 (I255K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285606	NM_001017392.5(SUGP2):c.944G>A (p.Ser315Asn)	LOC126862878, SUGP2 (S329N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269580	NM_001017392.5(SUGP2):c.923G>A (p.Arg308Gln)	LOC126862878, SUGP2 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259772	NM_001017392.5(SUGP2):c.1841C>G (p.Pro614Arg)	SUGP2 (P614R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240266	NM_001017392.5(SUGP2):c.2261C>T (p.Ser754Leu)	SUGP2 (S768L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223197	NM_001017392.5(SUGP2):c.1018A>G (p.Thr340Ala)	LOC126862878, SUGP2 (T354A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214318	NM_001017392.5(SUGP2):c.244A>C (p.Ser82Arg)	LOC126862878, SUGP2 (S96R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211880	NM_001017392.5(SUGP2):c.1915C>T (p.Arg639Trp)	SUGP2 (R639W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73