"Ambry Genetics"[submitter] AND "CERT1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3143200	NM_001379029.1(CERT1):c.1861C>T (p.Pro621Ser)	CERT1 (P621S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618619	NM_001379029.1(CERT1):c.1706G>A (p.Ser569Asn)	CERT1 (S569N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143199	NM_001379029.1(CERT1):c.1628G>A (p.Arg543Gln)	CERT1 (R671Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 445815	NM_001379029.1(CERT1):c.1616C>T (p.Pro539Leu)	CERT1 (P667L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1804869	NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val)	CERT1 (A512V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2608178	NM_001379029.1(CERT1):c.1610G>A (p.Ser537Asn)	CERT1 (S665N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655537	NM_001379029.1(CERT1):c.1465A>G (p.Ile489Val)	CERT1 (I463V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2672255	NM_001379029.1(CERT1):c.1300G>A (p.Val434Ile)	CERT1 (V408I +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 34 +1 more	GUncertain significance
Select item 3143198	NM_001379029.1(CERT1):c.1285G>A (p.Val429Ile)	CERT1 (V403I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143196	NM_001379029.1(CERT1):c.1132A>G (p.Met378Val)	CERT1 (M378V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143195	NM_001379029.1(CERT1):c.1120C>T (p.Arg374Cys)	CERT1 (R502C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143194	NM_001379029.1(CERT1):c.1090A>G (p.Thr364Ala)	CERT1 (T492A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610341	NM_001379029.1(CERT1):c.1054T>G (p.Ser352Ala)	CERT1 (S352A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143193	NM_001379029.1(CERT1):c.872A>T (p.Tyr291Phe)	CERT1 (Y291F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143192	NM_001379029.1(CERT1):c.846G>C (p.Glu282Asp)	CERT1 (E282D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143191	NM_001379029.1(CERT1):c.800T>C (p.Val267Ala)	CERT1 (V395A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143190	NM_001379029.1(CERT1):c.718G>T (p.Asp240Tyr)	CERT1 (D368Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506252	NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe)	CERT1 (C185F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3143215	NM_001379029.1(CERT1):c.473G>T (p.Arg158Leu)	CERT1 (R158L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143214	NM_001379029.1(CERT1):c.419C>T (p.Ala140Val)	CERT1 (A140V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985122	NM_001379029.1(CERT1):c.404C>T (p.Ser135Phe)	CERT1 (S135F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2523285	NM_001379029.1(CERT1):c.397A>G (p.Met133Val)	CERT1 (M261V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439923	NM_001379029.1(CERT1):c.238G>A (p.Asp80Asn)	CERT1 (D208N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3143211	NM_001379029.1(CERT1):c.127C>T (p.Arg43Cys)	CERT1 (R171C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655540	NM_001379029.1(CERT1):c.85G>A (p.Val29Ile)	CERT1, POLK (V157I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3143210	NM_001379029.1(CERT1):c.64C>T (p.Pro22Ser)	CERT1, POLK (P150S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3143209	NM_001379029.1(CERT1):c.47C>T (p.Pro16Leu)	CERT1, POLK (P144L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143208	NM_001379029.1(CERT1):c.-15G>T	CERT1, POLK (G124C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487325	NM_001379029.1(CERT1):c.-35C>T	CERT1, POLK (A117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143207	NM_001379029.1(CERT1):c.-63G>C	CERT1, POLK (G108R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143206	NM_001379029.1(CERT1):c.-68G>A	CERT1, POLK (G106E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521299	NM_001379029.1(CERT1):c.-75C>T	POLK, CERT1 (P104S)	Single nucleotide variant (missense variant +1 more)	CERT1-related condition +1 more	GLikely benign
Select item 3143205	NM_001379029.1(CERT1):c.-78T>C	CERT1, POLK (S103P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143204	NM_001379029.1(CERT1):c.-108G>A	CERT1, POLK (A93T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143202	NM_001379029.1(CERT1):c.-140C>T	CERT1, POLK (S82F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3143201	NM_001379029.1(CERT1):c.-150C>T	CERT1, POLK (R79W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143197	NM_001379029.1(CERT1):c.-221G>A	CERT1, POLK (G55D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2481974	NM_001379029.1(CERT1):c.-245C>T	CERT1, POLK (A47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143216	NM_001379029.1(CERT1):c.-297G>T	CERT1, POLK (G30W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143212	NM_001130105.1(CERT1):c.52G>C (p.Ala18Pro)	CERT1, POLK (A18P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143203	NM_001130105.1(CERT1):c.26C>T (p.Pro9Leu)	CERT1, LOC129994075 +1 more (P9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 41