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

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559296	NM_001193313.2(SUGCT):c.-6C>T	LOC129998297, SUGCT (H6Y)	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 2274288	NM_001193313.2(SUGCT):c.7G>C (p.Ala3Pro)	LOC129998297, SUGCT (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1539031	NM_001193313.2(SUGCT):c.92C>T (p.Pro31Leu)	SUGCT (P31L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1470179	NM_001193313.2(SUGCT):c.103A>G (p.Met35Val)	SUGCT (M35V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2046203	NM_001193313.2(SUGCT):c.192T>A (p.Asp64Glu)	SUGCT (D64E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2490623	NM_001193313.2(SUGCT):c.200C>A (p.Ala67Glu)	SUGCT (A67E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171961	NM_001193313.2(SUGCT):c.223C>G (p.Pro75Ala)	SUGCT (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074660	NM_001193313.2(SUGCT):c.245G>C (p.Arg82Pro)	SUGCT (R82P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3171962	NM_001193313.2(SUGCT):c.254G>A (p.Gly85Glu)	SUGCT (G85E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321297	NM_001193313.2(SUGCT):c.265G>C (p.Val89Leu)	SUGCT (V89L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608938	NM_001193313.2(SUGCT):c.287A>T (p.Tyr96Phe)	SUGCT (Y96F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1416182	NM_001193313.2(SUGCT):c.518C>T (p.Ala173Val)	SUGCT (A173V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2390708	NM_001193313.2(SUGCT):c.539C>T (p.Ser180Leu)	SUGCT (S143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600582	NM_001193313.2(SUGCT):c.593G>A (p.Arg198His)	SUGCT (R198H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323117	NM_001193313.2(SUGCT):c.620C>T (p.Ala207Val)	SUGCT (A207V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313173	NM_001193313.2(SUGCT):c.779G>A (p.Arg260His)	SUGCT (R212H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3171963	NM_001193313.2(SUGCT):c.839A>G (p.Tyr280Cys)	SUGCT (Y232C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171964	NM_001193313.2(SUGCT):c.875C>G (p.Ala292Gly)	SUGCT (A244G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273259	NM_001193313.2(SUGCT):c.895G>T (p.Asp299Tyr)	SUGCT (D299Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292622	NM_001193313.2(SUGCT):c.1159G>A (p.Ala387Thr)	SUGCT (A387T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171960	NM_001193313.2(SUGCT):c.1199C>T (p.Pro400Leu)	SUGCT (P352L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465945	NM_001193313.2(SUGCT):c.1240G>A (p.Glu414Lys)	SUGCT (E440K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 22