"Ambry Genetics"[submitter] AND "TMEM8B"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356488	NM_001042590.4(TMEM8B):c.1412T>C (p.Leu471Pro)	TMEM8B (L471P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179720	NM_001042590.4(TMEM8B):c.1424C>T (p.Ala475Val)	TMEM8B (A23V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2366735	NM_001042590.4(TMEM8B):c.1442C>T (p.Thr481Met)	TMEM8B (T481M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381628	NM_001042590.4(TMEM8B):c.1556G>A (p.Arg519His)	TMEM8B (R519H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179717	NM_001042590.4(TMEM8B):c.1564G>C (p.Val522Leu)	TMEM8B (V70L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465961	NM_001042590.4(TMEM8B):c.1564G>A (p.Val522Met)	TMEM8B (V522M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179718	NM_001042590.4(TMEM8B):c.1621C>T (p.Leu541Phe)	TMEM8B (L89F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347962	NM_001042590.4(TMEM8B):c.1657G>T (p.Val553Leu)	TMEM8B (V101L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332364	NM_001042590.4(TMEM8B):c.1667T>C (p.Phe556Ser)	TMEM8B (F104S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624083	NM_001042590.4(TMEM8B):c.1858G>T (p.Val620Leu)	TMEM8B (R244L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623121	NM_001042590.4(TMEM8B):c.1867C>T (p.Arg623Cys)	TMEM8B (R171C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606338	NM_001042590.4(TMEM8B):c.1960C>G (p.His654Asp)	TMEM8B (H202D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255797	NM_001042590.4(TMEM8B):c.2011G>A (p.Gly671Ser)	TMEM8B (G219S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394746	NM_001042590.4(TMEM8B):c.2099C>T (p.Pro700Leu)	TMEM8B (P248L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179721	NM_001042590.4(TMEM8B):c.2150A>G (p.Tyr717Cys)	TMEM8B (Y717C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350129	NM_001042590.4(TMEM8B):c.2258G>C (p.Gly753Ala)	TMEM8B (G301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240297	NM_001042590.4(TMEM8B):c.2299C>T (p.Arg767Cys)	TMEM8B (R767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351558	NM_001042590.4(TMEM8B):c.2314G>T (p.Val772Phe)	TMEM8B (V772F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551974	NM_001042590.4(TMEM8B):c.2451C>A (p.Ser817Arg)	TMEM8B (S365R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360767	NM_001042590.4(TMEM8B):c.2456G>A (p.Arg819His)	TMEM8B (R367H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283660	NM_001042590.4(TMEM8B):c.2561C>G (p.Thr854Ser)	TMEM8B (T402S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179714	NM_001042590.4(TMEM8B):c.2564G>A (p.Arg855Gln)	TMEM8B (R855Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532367	NM_001042590.4(TMEM8B):c.2576T>A (p.Phe859Tyr)	TMEM8B (F859Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355363	NM_001042590.4(TMEM8B):c.2674C>T (p.Arg892Trp)	TMEM8B (R440W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3179716	NM_001042590.4(TMEM8B):c.2681G>A (p.Arg894Gln)	TMEM8B (R442Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476599	NM_001042590.4(TMEM8B):c.2710G>A (p.Glu904Lys)	TMEM8B (E904K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361964	NM_001042590.4(TMEM8B):c.2731G>A (p.Val911Met)	TMEM8B (V459M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 27