"Ambry Genetics"[submitter] AND "SUPT3H"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2238779	NM_003599.4(SUPT3H):c.919T>C (p.Tyr307His)	SUPT3H (Y305H +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2490512	NM_003599.4(SUPT3H):c.850T>C (p.Cys284Arg)	SUPT3H (C198R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331164	NM_003599.4(SUPT3H):c.834C>G (p.Ser278Arg)	SUPT3H (S289R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368654	NM_003599.4(SUPT3H):c.772A>G (p.Thr258Ala)	SUPT3H (T258A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400464	NM_003599.4(SUPT3H):c.649G>A (p.Ala217Thr)	SUPT3H (A131T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387499	NM_003599.4(SUPT3H):c.484G>C (p.Val162Leu)	SUPT3H (V10L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401498	NM_003599.4(SUPT3H):c.448C>A (p.Leu150Ile)	SUPT3H (L148I +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608450	NM_003599.4(SUPT3H):c.406A>T (p.Ile136Phe)	SUPT3H (I50F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2555925	NM_003599.4(SUPT3H):c.376G>A (p.Gly126Ser)	SUPT3H (G40S +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2233880	NM_003599.4(SUPT3H):c.350A>G (p.Asp117Gly)	SUPT3H (D128G +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2380287	NM_003599.4(SUPT3H):c.343G>A (p.Asp115Asn)	SUPT3H (D113N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310568	NM_003599.4(SUPT3H):c.335A>G (p.Lys112Arg)	SUPT3H (K123R +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367511	NM_003599.4(SUPT3H):c.314A>T (p.Asp105Val)	SUPT3H (D105V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230603	NM_003599.4(SUPT3H):c.263G>A (p.Arg88His)	SUPT3H (R86H +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2326224	NM_003599.4(SUPT3H):c.254T>C (p.Phe85Ser)	SUPT3H (F85S +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2378560	NM_003599.4(SUPT3H):c.223G>A (p.Ala75Thr)	SUPT3H (A73T +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2328603	NM_003599.4(SUPT3H):c.148T>G (p.Leu50Val)	SUPT3H (L29V +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2253951	NM_003599.4(SUPT3H):c.131T>G (p.Leu44Arg)	SUPT3H (L23R +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2593934	NM_003599.4(SUPT3H):c.101+43375A>G	SUPT3H (N35S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2405100	NM_003599.4(SUPT3H):c.101+43323A>G	SUPT3H (T18A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411930	NM_003599.4(SUPT3H):c.101+42300A>G	SUPT3H (T6A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598989	NM_001024630.4(RUNX2):c.43C>A (p.Gln15Lys)	RUNX2, SUPT3H (Q15K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 22