"Ambry Genetics"[submitter] AND "SUGT1"[gene] - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2217940	NM_006704.5(SUGT1):c.48G>C (p.Gln16His)	SUGT1 (Q16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322407	NM_006704.5(SUGT1):c.67A>C (p.Ile23Leu)	SUGT1 (I23L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234018	NM_006704.5(SUGT1):c.76G>A (p.Asp26Asn)	SUGT1 (D26N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304772	NM_006704.5(SUGT1):c.104C>T (p.Thr35Ile)	SUGT1 (T35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533740	NM_006704.5(SUGT1):c.245T>C (p.Met82Thr)	SUGT1 (M26T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464841	NM_006704.5(SUGT1):c.368A>T (p.Gln123Leu)	SUGT1 (Q123L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323576	NM_006704.5(SUGT1):c.397G>T (p.Val133Leu)	SUGT1 (V133L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172001	NM_006704.5(SUGT1):c.493G>C (p.Val165Leu)	SUGT1 (V197L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244167	NM_006704.5(SUGT1):c.630T>G (p.Ile210Met)	SUGT1 (I210M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172002	NM_006704.5(SUGT1):c.725A>G (p.Lys242Arg)	SUGT1 (K242R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319700	NM_006704.5(SUGT1):c.802A>T (p.Asn268Tyr)	SUGT1 (N212Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557222	NM_006704.5(SUGT1):c.869A>T (p.Asp290Val)	SUGT1 (D234V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514958	NM_006704.5(SUGT1):c.932A>G (p.Asn311Ser)	SUGT1 (N311S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323575	NM_006704.5(SUGT1):c.937T>A (p.Ser313Thr)	SUGT1 (S257T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241216	NM_006704.5(SUGT1):c.986A>G (p.Glu329Gly)	SUGT1 (E273G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance