"Ambry Genetics"[submitter] AND "SUPT16H"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172136	NM_007192.4(SUPT16H):c.3134A>G (p.Lys1045Arg)	LOC126861887, SUPT16H (K1045R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236839	NM_007192.4(SUPT16H):c.3125C>T (p.Pro1042Leu)	LOC126861887, SUPT16H (P1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404303	NM_007192.4(SUPT16H):c.3086G>A (p.Arg1029His)	LOC126861887, SUPT16H (R1029H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541925	NM_007192.4(SUPT16H):c.3014G>A (p.Arg1005His)	LOC126861887, SUPT16H (R1005H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258946	NM_007192.4(SUPT16H):c.2945G>A (p.Ser982Asn)	SUPT16H (S982N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269621	NM_007192.4(SUPT16H):c.2938T>A (p.Leu980Met)	SUPT16H (L980M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323644	NM_007192.4(SUPT16H):c.2909C>T (p.Ala970Val)	SUPT16H (A970V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323645	NM_007192.4(SUPT16H):c.1669A>G (p.Ile557Val)	SUPT16H (I557V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514723	NM_007192.4(SUPT16H):c.1282G>A (p.Val428Met)	SUPT16H (V428M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323643	NM_007192.4(SUPT16H):c.1163A>T (p.Asn388Ile)	SUPT16H (N388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259773	NM_007192.4(SUPT16H):c.1100A>G (p.Asn367Ser)	SUPT16H (N367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213586	NM_007192.4(SUPT16H):c.977A>T (p.Tyr326Phe)	SUPT16H (Y326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513669	NM_007192.4(SUPT16H):c.967T>C (p.Cys323Arg)	SUPT16H (C323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172137	NM_007192.4(SUPT16H):c.966A>G (p.Ile322Met)	SUPT16H (I322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613507	NM_007192.4(SUPT16H):c.911T>G (p.Phe304Cys)	SUPT16H (F304C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219695	NM_007192.4(SUPT16H):c.332A>C (p.Asn111Thr)	SUPT16H (N111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551585	NM_007192.4(SUPT16H):c.100A>G (p.Ile34Val)	SUPT16H (I34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance