SPRED3[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2553867	NM_001394336.1(SPRED3):c.106G>A (p.Gly36Arg)	SPRED3 (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322369	NM_001394336.1(SPRED3):c.124G>T (p.Gly42Trp)	SPRED3 (G42W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322370	NM_001394336.1(SPRED3):c.125G>T (p.Gly42Val)	SPRED3 (G42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322367	NM_001394336.1(SPRED3):c.131G>C (p.Arg44Pro)	SPRED3 (R44P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735572	NM_001394336.1(SPRED3):c.153C>T (p.His51=)	SPRED3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3169376	NM_001394336.1(SPRED3):c.440A>G (p.Asp147Gly)	SPRED3 (D147G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169377	NM_001394336.1(SPRED3):c.442T>G (p.Ser148Ala)	SPRED3 (S148A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169378	NM_001394336.1(SPRED3):c.443C>A (p.Ser148Tyr)	SPRED3 (S148Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3322371	NM_001394336.1(SPRED3):c.525C>A (p.Phe175Leu)	SPRED3 (F7L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322366	NM_001394336.1(SPRED3):c.542C>A (p.Pro181His)	SPRED3 (P13H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530651	NM_001394336.1(SPRED3):c.548G>T (p.Arg183Leu)	SPRED3 (R183L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2454758	NM_001394336.1(SPRED3):c.553C>T (p.Arg185Cys)	SPRED3 (R185C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406675	NM_001394336.1(SPRED3):c.562G>A (p.Ala188Thr)	SPRED3 (A20T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263249	NM_001394336.1(SPRED3):c.593C>T (p.Thr198Met)	SPRED3 (T150M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322368	NM_001394336.1(SPRED3):c.634G>A (p.Gly212Ser)	SPRED3 (G44S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322365	NM_001394336.1(SPRED3):c.655G>A (p.Gly219Ser)	SPRED3 (G219S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220848	NM_001394336.1(SPRED3):c.656G>A (p.Gly219Asp)	SPRED3 (G219D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314779	NM_001394336.1(SPRED3):c.680G>C (p.Gly227Ala)	SPRED3 (G227A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323343	NM_001394336.1(SPRED3):c.700C>G (p.Leu234Val)	SPRED3 (L234V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169379	NM_001394336.1(SPRED3):c.724G>T (p.Ala242Ser)	SPRED3 (A194S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169380	NM_001394336.1(SPRED3):c.779C>T (p.Ala260Val)	SPRED3 (A260V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314630	NM_001394336.1(SPRED3):c.812C>T (p.Pro271Leu)	SPRED3 (P271L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510669	NM_001394336.1(SPRED3):c.830G>C (p.Gly277Ala)	SPRED3 (G109A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296437	NM_001394336.1(SPRED3):c.841T>A (p.Ser281Thr)	SPRED3 (S113T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360845	NM_001394336.1(SPRED3):c.865C>A (p.Pro289Thr)	SPRED3 (P241T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537072	NM_001394336.1(SPRED3):c.887G>T (p.Arg296Leu)	SPRED3 (R128L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269669	NM_001394336.1(SPRED3):c.951G>C (p.Glu317Asp)	SPRED3 (E317D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242548	NM_001394336.1(SPRED3):c.1003G>T (p.Ala335Ser)	SPRED3 (A167S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169374	NM_001394336.1(SPRED3):c.1082C>G (p.Pro361Arg)	SPRED3 (P313R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212408	NM_001394336.1(SPRED3):c.1090G>A (p.Ala364Thr)	SPRED3 (A316T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233877	NM_001394336.1(SPRED3):c.1121C>T (p.Ser374Phe)	SPRED3 (S374F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459701	NM_001394336.1(SPRED3):c.1171T>C (p.Trp391Arg)	SPRED3 (W223R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169375	NM_001394336.1(SPRED3):c.1184G>T (p.Arg395Leu)	SPRED3 (R347L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 43