"Ambry Genetics"[submitter] AND "SMG9"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3166550	NM_019108.4(SMG9):c.1502G>A (p.Arg501Gln)	SMG9 (R501Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166549	NM_019108.4(SMG9):c.1420C>T (p.Arg474Trp)	SMG9 (R474W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320968	NM_019108.4(SMG9):c.1390C>T (p.Pro464Ser)	SMG9 (P464S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166548	NM_019108.4(SMG9):c.1379A>G (p.Tyr460Cys)	SMG9 (Y460C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393249	NM_019108.4(SMG9):c.1352G>A (p.Ser451Asn)	SMG9 (S451N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166547	NM_019108.4(SMG9):c.1258G>C (p.Asp420His)	SMG9 (D420H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520551	NM_019108.4(SMG9):c.1249C>T (p.Leu417Phe)	SMG9 (L417F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207453	NM_019108.4(SMG9):c.1144C>T (p.Arg382Trp)	SMG9 (R382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370579	NM_019108.4(SMG9):c.1124G>A (p.Arg375His)	SMG9 (R375H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363605	NM_019108.4(SMG9):c.1067G>T (p.Gly356Val)	SMG9 (G356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320969	NM_019108.4(SMG9):c.964C>G (p.Gln322Glu)	SMG9 (Q322E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233638	NM_019108.4(SMG9):c.892A>G (p.Thr298Ala)	SMG9 (T298A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228670	NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)	SMG9 (E263*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3166554	NM_019108.4(SMG9):c.752A>G (p.Asn251Ser)	SMG9 (N251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166553	NM_019108.4(SMG9):c.751A>C (p.Asn251His)	SMG9 (N251H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2573805	NM_019108.4(SMG9):c.658G>A (p.Val220Ile)	SMG9 (V220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2375047	NM_019108.4(SMG9):c.530T>C (p.Met177Thr)	SMG9 (M177T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231390	NM_019108.4(SMG9):c.527G>C (p.Arg176Pro)	SMG9 (R176P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362518	NM_019108.4(SMG9):c.518C>T (p.Pro173Leu)	SMG9 (P173L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320965	NM_019108.4(SMG9):c.496G>A (p.Val166Met)	SMG9 (V166M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521474	NM_019108.4(SMG9):c.458G>T (p.Gly153Val)	SMG9 (G153V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320967	NM_019108.4(SMG9):c.392C>T (p.Ala131Val)	SMG9 (A131V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207469	NM_019108.4(SMG9):c.382G>A (p.Ala128Thr)	SMG9 (A128T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238892	NM_019108.4(SMG9):c.365C>A (p.Thr122Asn)	SMG9 (T122N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166552	NM_019108.4(SMG9):c.362G>T (p.Gly121Val)	SMG9 (G121V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309815	NM_019108.4(SMG9):c.308C>T (p.Pro103Leu)	LOC130064611, SMG9 (P103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320966	NM_019108.4(SMG9):c.263C>T (p.Pro88Leu)	LOC130064611, SMG9 (P88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526691	NM_019108.4(SMG9):c.251C>A (p.Ala84Asp)	LOC130064611, SMG9 (A84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166551	NM_019108.4(SMG9):c.248C>T (p.Thr83Ile)	LOC130064611, SMG9 (T83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252958	NM_019108.4(SMG9):c.247A>G (p.Thr83Ala)	LOC130064611, SMG9 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229592	NM_019108.4(SMG9):c.226-3T>C	LOC130064611, SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2455016	NM_019108.4(SMG9):c.196A>G (p.Ile66Val)	SMG9 (I66V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2222595	NM_019108.4(SMG9):c.150+3G>A	SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2313299	NM_019108.4(SMG9):c.139A>G (p.Arg47Gly)	SMG9 (R47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383253	NM_019108.4(SMG9):c.133T>C (p.Trp45Arg)	SMG9 (W45R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166546	NM_019108.4(SMG9):c.110G>A (p.Arg37Gln)	SMG9 (R37Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488984	NM_019108.4(SMG9):c.49C>T (p.Arg17Trp)	SMG9 (R17W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 37