SPRYD3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 3169426	NM_032840.3(SPRYD3):c.1226G>C (p.Gly409Ala)	SPRYD3 (G409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540101	NM_032840.3(SPRYD3):c.1148A>G (p.Glu383Gly)	SPRYD3 (E383G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283012	NM_032840.3(SPRYD3):c.1120G>A (p.Glu374Lys)	SPRYD3 (E374K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599690	NM_032840.3(SPRYD3):c.1070G>C (p.Arg357Pro)	SPRYD3 (R357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169425	NM_032840.3(SPRYD3):c.1004A>G (p.Tyr335Cys)	SPRYD3 (Y335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532443	NM_032840.3(SPRYD3):c.770G>A (p.Arg257His)	SPRYD3 (R257H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614942	NM_032840.3(SPRYD3):c.769C>T (p.Arg257Cys)	SPRYD3 (R257C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169428	NM_032840.3(SPRYD3):c.742G>A (p.Ala248Thr)	SPRYD3 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322387	NM_032840.3(SPRYD3):c.662G>A (p.Gly221Asp)	SPRYD3 (G221D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169427	NM_032840.3(SPRYD3):c.662G>T (p.Gly221Val)	SPRYD3 (G221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220028	NM_032840.3(SPRYD3):c.538G>A (p.Asp180Asn)	SPRYD3 (D180N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322386	NM_032840.3(SPRYD3):c.397C>T (p.Arg133Cys)	SPRYD3 (R133C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306387	NM_032840.3(SPRYD3):c.176A>G (p.His59Arg)	SPRYD3 (H59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515929	NM_032840.3(SPRYD3):c.104G>A (p.Arg35Gln)	SPRYD3 (R35Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219008	NM_032840.3(SPRYD3):c.22C>G (p.Arg8Gly)	LOC130007957, SPRYD3 (R8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226644	NM_032840.3(SPRYD3):c.14G>T (p.Arg5Leu)	LOC130007957, SPRYD3 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980438	GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1	PCBP2, SP7 +17 more	Copy number loss	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221489	GRCh37/hg19 12q13.13(chr12:53421635-53645669)x3	ZNF740, ITGB7 +8 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 25