"Ambry Genetics"[submitter] AND "SPMIP8"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2488099	NM_199046.2(SPMIP8):c.10G>T (p.Val4Phe)	SPMIP8 (V4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322279	NM_199046.2(SPMIP8):c.34C>G (p.Leu12Val)	SPMIP8 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263692	NM_199046.2(SPMIP8):c.47T>C (p.Ile16Thr)	SPMIP8 (I16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235338	NM_199046.2(SPMIP8):c.59G>A (p.Arg20His)	SPMIP8 (R20H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480606	NM_199046.2(SPMIP8):c.65C>T (p.Pro22Leu)	SPMIP8 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322281	NM_199456.3(SPMIP8):c.-42C>T	SPMIP8	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2232046	NM_199456.3(SPMIP8):c.7C>T (p.Arg3Cys)	SPMIP8 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375913	NM_199456.3(SPMIP8):c.8G>A (p.Arg3His)	SPMIP8 (R3H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235332	NM_199456.3(SPMIP8):c.34G>A (p.Asp12Asn)	SPMIP8 (D12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468491	NM_199456.3(SPMIP8):c.86G>A (p.Arg29Gln)	SPMIP8 (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379582	NM_199456.3(SPMIP8):c.92G>A (p.Arg31His)	SPMIP8 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264525	NM_199456.3(SPMIP8):c.179G>C (p.Cys60Ser)	SPMIP8 (C60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235333	NM_199456.3(SPMIP8):c.218G>A (p.Arg73His)	SPMIP8 (R73H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277645	NM_199456.3(SPMIP8):c.250C>T (p.Leu84Phe)	SPMIP8 (L84F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235335	NM_199456.3(SPMIP8):c.356G>T (p.Gly119Val)	SPMIP8 (G119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276915	NM_199456.3(SPMIP8):c.399G>C (p.Glu133Asp)	SPMIP8 (E133D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235336	NM_199456.3(SPMIP8):c.427G>A (p.Gly143Arg)	SPMIP8 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235337	NM_199456.3(SPMIP8):c.428G>A (p.Gly143Glu)	SPMIP8 (G143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305165	NM_199456.3(SPMIP8):c.464A>G (p.Glu155Gly)	SPMIP8 (E155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235339	NM_199456.3(SPMIP8):c.475G>C (p.Gly159Arg)	LOC130059127, SPMIP8 (G159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298015	NM_199456.3(SPMIP8):c.491A>G (p.Tyr164Cys)	LOC130059127, SPMIP8 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355487	NM_199456.3(SPMIP8):c.523-23C>T	SPMIP8 (P194L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348233	NM_199456.3(SPMIP8):c.523-5C>G	SPMIP8 (P200R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208617	NM_199456.3(SPMIP8):c.622C>T (p.Arg208Cys)	SPMIP8 (R208C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322280	NM_199456.3(SPMIP8):c.623G>A (p.Arg208His)	SPMIP8 (R208H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483700	NM_199456.3(SPMIP8):c.623G>C (p.Arg208Pro)	SPMIP8 (R235P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465488	NM_199456.3(SPMIP8):c.646C>T (p.His216Tyr)	SPMIP8 (H243Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27