"Ambry Genetics"[submitter] AND "RSAD1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2335429	NM_018346.3(RSAD1):c.16G>T (p.Ala6Ser)	LOC130061165, RSAD1 (A6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266833	NM_018346.3(RSAD1):c.17C>A (p.Ala6Asp)	LOC130061165, RSAD1 (A6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354232	NM_018346.3(RSAD1):c.38C>T (p.Ala13Val)	LOC130061165, RSAD1 (A13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315503	NM_018346.3(RSAD1):c.68G>A (p.Arg23His)	LOC130061165, RSAD1 (R23H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315498	NM_018346.3(RSAD1):c.79G>A (p.Ala27Thr)	RSAD1, LOC130061165 (A27T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315497	NM_018346.3(RSAD1):c.98C>T (p.Pro33Leu)	LOC130061165, RSAD1 (P33L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619547	NM_018346.3(RSAD1):c.116G>A (p.Arg39His)	LOC130061165, RSAD1 (R39H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156572	NM_018346.3(RSAD1):c.125T>C (p.Leu42Pro)	LOC130061165, RSAD1 (L42P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400706	NM_018346.3(RSAD1):c.188C>T (p.Pro63Leu)	RSAD1 (P63L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315499	NM_018346.3(RSAD1):c.376T>G (p.Leu126Val)	RSAD1 (L126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315501	NM_018346.3(RSAD1):c.413C>T (p.Pro138Leu)	RSAD1 (P138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598530	NM_018346.3(RSAD1):c.483T>G (p.Asp161Glu)	RSAD1 (D161E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156573	NM_018346.3(RSAD1):c.508C>T (p.Arg170Trp)	RSAD1 (R170W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396702	NM_018346.3(RSAD1):c.512C>T (p.Thr171Met)	RSAD1 (T171M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156575	NM_018346.3(RSAD1):c.518C>T (p.Ser173Leu)	RSAD1 (S173L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315500	NM_018346.3(RSAD1):c.542T>C (p.Leu181Pro)	RSAD1 (L181P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297413	NM_018346.3(RSAD1):c.551C>T (p.Ala184Val)	RSAD1 (A184V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267264	NM_018346.3(RSAD1):c.580G>C (p.Val194Leu)	RSAD1 (V194L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330601	NM_018346.3(RSAD1):c.591G>A (p.Met197Ile)	RSAD1 (M197I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337527	NM_018346.3(RSAD1):c.602C>T (p.Pro201Leu)	RSAD1 (P201L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156576	NM_018346.3(RSAD1):c.616G>T (p.Gly206Trp)	RSAD1 (G206W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211648	NM_018346.3(RSAD1):c.620C>T (p.Pro207Leu)	RSAD1 (P207L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156577	NM_018346.3(RSAD1):c.633G>T (p.Gln211His)	RSAD1 (Q211H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315495	NM_018346.3(RSAD1):c.653A>G (p.His218Arg)	RSAD1 (H218R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361465	NM_018346.3(RSAD1):c.745G>C (p.Asp249His)	RSAD1 (D249H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156578	NM_018346.3(RSAD1):c.820G>A (p.Val274Ile)	RSAD1 (V274I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514701	NM_018346.3(RSAD1):c.836G>A (p.Arg279Gln)	RSAD1 (R279Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315502	NM_018346.3(RSAD1):c.842G>A (p.Gly281Glu)	LOC112533651, RSAD1 (G281E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323046	NM_018346.3(RSAD1):c.857A>C (p.His286Pro)	LOC112533651, RSAD1 (H286P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488066	NM_018346.3(RSAD1):c.958C>G (p.Arg320Gly)	RSAD1 (R320G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459966	NM_018346.3(RSAD1):c.1022G>A (p.Arg341Gln)	RSAD1 (R341Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362554	NM_018346.3(RSAD1):c.1028G>A (p.Arg343His)	RSAD1 (R343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295169	NM_018346.3(RSAD1):c.1036C>A (p.Leu346Met)	RSAD1 (L346M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516288	NM_018346.3(RSAD1):c.1037T>C (p.Leu346Pro)	RSAD1 (L346P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348820	NM_018346.3(RSAD1):c.1072C>G (p.Leu358Val)	RSAD1 (L358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156569	NM_018346.3(RSAD1):c.1081C>T (p.Arg361Cys)	RSAD1 (R361C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156570	NM_018346.3(RSAD1):c.1115A>G (p.Gln372Arg)	RSAD1 (Q372R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156571	NM_018346.3(RSAD1):c.1126C>T (p.Pro376Ser)	RSAD1 (P376S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38