"Ambry Genetics"[submitter] AND "SUZ12"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2494468	NM_015355.4(SUZ12):c.89C>T (p.Ala30Val)	SUZ12 (A30V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569160	NM_015355.4(SUZ12):c.101C>G (p.Ala34Gly)	SUZ12 (A34G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2565332	NM_015355.4(SUZ12):c.110C>T (p.Ser37Leu)	SUZ12 (S37L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172317	NM_015355.4(SUZ12):c.119A>G (p.Lys40Arg)	SUZ12 (K40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569554	NM_015355.4(SUZ12):c.133A>G (p.Ser45Gly)	SUZ12 (S45G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231374	NM_015355.4(SUZ12):c.140G>C (p.Gly47Ala)	SUZ12 (G47A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3172320	NM_015355.4(SUZ12):c.143G>A (p.Gly48Glu)	SUZ12 (G48E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284559	NM_015355.4(SUZ12):c.151A>G (p.Ser51Gly)	SUZ12 (S51G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549425	NM_015355.4(SUZ12):c.170C>T (p.Ser57Phe)	SUZ12 (S57F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323707	NM_015355.4(SUZ12):c.211G>T (p.Val71Leu)	SUZ12 (V71L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463929	NM_015355.4(SUZ12):c.250G>A (p.Glu84Lys)	SUZ12 (E84K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985704	NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter)	SUZ12 (R121*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3251504	NM_015355.4(SUZ12):c.431T>C (p.Met144Thr)	SUZ12 (M144T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3323703	NM_015355.4(SUZ12):c.439G>C (p.Glu147Gln)	SUZ12 (E147Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556986	NM_015355.4(SUZ12):c.692C>G (p.Ala231Gly)	SUZ12 (A231G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316466	NM_015355.4(SUZ12):c.728A>G (p.His243Arg)	SUZ12 (H220R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525653	NM_015355.4(SUZ12):c.812A>T (p.Asn271Ile)	SUZ12 (N248I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402268	NM_015355.4(SUZ12):c.812A>G (p.Asn271Ser)	SUZ12 (N271S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323704	NM_015355.4(SUZ12):c.859A>G (p.Asn287Asp)	SUZ12 (N287D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615338	NM_015355.4(SUZ12):c.865G>A (p.Glu289Lys)	SUZ12 (E266K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610779	NM_015355.4(SUZ12):c.1072A>G (p.Thr358Ala)	SUZ12 (T358A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606833	NM_015355.4(SUZ12):c.1098T>G (p.Asn366Lys)	SUZ12 (N343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265676	NM_015355.4(SUZ12):c.1223C>G (p.Thr408Arg)	SUZ12 (T408R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3172319	NM_015355.4(SUZ12):c.1372C>T (p.Arg458Cys)	SUZ12 (R435C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3323706	NM_015355.4(SUZ12):c.1471A>G (p.Ile491Val)	SUZ12 (I491V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3323705	NM_015355.4(SUZ12):c.1496A>G (p.Tyr499Cys)	SUZ12 (Y476C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289093	NM_015355.4(SUZ12):c.1585C>T (p.Leu529Phe)	SUZ12 (L506F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239907	NM_015355.4(SUZ12):c.1794+6T>A	SUZ12	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3172321	NM_015355.4(SUZ12):c.2032G>A (p.Val678Ile)	SUZ12 (V655I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172322	NM_015355.4(SUZ12):c.2072G>A (p.Gly691Glu)	SUZ12 (G691E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610281	NM_015355.4(SUZ12):c.2168A>G (p.Glu723Gly)	SUZ12 (E723G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 31