"Ambry Genetics"[submitter] AND "H1-8"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103643	NM_153833.3(H1-8):c.24C>G (p.Ser8Arg)	H1-8 (S8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103642	NM_153833.3(H1-8):c.24C>A (p.Ser8Arg)	H1-8 (S8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103644	NM_153833.3(H1-8):c.25G>A (p.Asp9Asn)	H1-8 (D9N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103645	NM_153833.3(H1-8):c.26A>G (p.Asp9Gly)	H1-8 (D9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474873	NM_153833.3(H1-8):c.28A>G (p.Ile10Val)	H1-8 (I10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103651	NM_153833.3(H1-8):c.41C>T (p.Ser14Leu)	H1-8 (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103656	NM_153833.3(H1-8):c.50C>T (p.Thr17Ile)	H1-8 (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103662	NM_153833.3(H1-8):c.75A>C (p.Glu25Asp)	H1-8 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283293	NM_153833.3(H1-8):c.86C>A (p.Pro29Gln)	H1-8 (P29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103666	NM_153833.3(H1-8):c.98A>C (p.His33Pro)	H1-8 (H33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103638	NM_153833.3(H1-8):c.122C>T (p.Pro41Leu)	H1-8 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283289	NM_153833.3(H1-8):c.158C>A (p.Pro53His)	H1-8 (P53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103639	NM_153833.3(H1-8):c.161C>T (p.Pro54Leu)	H1-8 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103640	NM_153833.3(H1-8):c.206G>A (p.Arg69His)	H1-8 (R69H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589873	NM_153833.3(H1-8):c.209G>T (p.Arg70Leu)	H1-8 (R70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462874	NM_153833.3(H1-8):c.209G>A (p.Arg70Gln)	H1-8 (R70Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103641	NM_153833.3(H1-8):c.249C>G (p.His83Gln)	H1-8 (H83Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283288	NM_153833.3(H1-8):c.305C>T (p.Ala102Val)	H1-8 (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103646	NM_153833.3(H1-8):c.316C>T (p.Arg106Cys)	H1-8 (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103647	NM_153833.3(H1-8):c.331G>A (p.Ala111Thr)	H1-8 (A111T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103648	NM_153833.3(H1-8):c.356G>A (p.Arg119Lys)	H1-8 (R119K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103649	NM_153833.3(H1-8):c.362C>A (p.Ala121Asp)	H1-8 (A121D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103652	NM_153833.3(H1-8):c.427G>A (p.Ala143Thr)	H1-8 (A143T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103653	NM_153833.3(H1-8):c.428C>T (p.Ala143Val)	H1-8 (A4V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103654	NM_153833.3(H1-8):c.446C>T (p.Ala149Val)	H1-8 (A10V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103655	NM_153833.3(H1-8):c.508G>A (p.Val170Met)	H1-8 (V170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283292	NM_153833.3(H1-8):c.541G>C (p.Ala181Pro)	H1-8 (A181P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614723	NM_153833.3(H1-8):c.568C>A (p.Pro190Thr)	H1-8 (P190T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618261	NM_153833.3(H1-8):c.574G>A (p.Ala192Thr)	H1-8 (A192T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103657	NM_153833.3(H1-8):c.575C>T (p.Ala192Val)	H1-8 (A53V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103658	NM_153833.3(H1-8):c.593G>A (p.Arg198His)	H1-8 (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103659	NM_153833.3(H1-8):c.607G>A (p.Ala203Thr)	H1-8 (A203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539423	NM_153833.3(H1-8):c.629A>G (p.Gln210Arg)	H1-8 (Q71R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568961	NM_153833.3(H1-8):c.632C>T (p.Ser211Leu)	H1-8 (S211L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458328	NM_153833.3(H1-8):c.640G>T (p.Ala214Ser)	H1-8 (A75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616281	NM_153833.3(H1-8):c.655C>T (p.Pro219Ser)	H1-8 (P219S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103660	NM_153833.3(H1-8):c.674T>C (p.Met225Thr)	H1-8 (M225T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103661	NM_153833.3(H1-8):c.677G>A (p.Arg226Gln)	H1-8 (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547747	NM_153833.3(H1-8):c.698G>A (p.Gly233Glu)	H1-8 (G233E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283291	NM_153833.3(H1-8):c.797C>T (p.Thr266Met)	H1-8 (T266M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283290	NM_153833.3(H1-8):c.820G>A (p.Ala274Thr)	H1-8 (A135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619239	NM_153833.3(H1-8):c.845T>C (p.Val282Ala)	H1-8 (V143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103664	NM_153833.3(H1-8):c.910A>G (p.Lys304Glu)	H1-8 (K304E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103665	NM_153833.3(H1-8):c.914G>A (p.Gly305Asp)	H1-8 (G305D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474153	NM_153833.3(H1-8):c.962C>T (p.Ala321Val)	H1-8 (A182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 45