"Ambry Genetics"[submitter] AND "CERS1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1007022	NM_001492.6(GDF1):c.1102G>A (p.Glu368Lys)	CERS1, GDF1 (E368K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 2262848	NM_001492.6(GDF1):c.1096G>T (p.Val366Leu)	CERS1, GDF1 (V366L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2305894	NM_001492.6(GDF1):c.1016C>T (p.Pro339Leu)	CERS1, GDF1 (P339L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274259	NM_001492.6(GDF1):c.1001T>G (p.Leu334Arg)	CERS1, GDF1 (L334R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 471940	NM_001492.6(GDF1):c.985C>T (p.Pro329Ser)	GDF1, CERS1 (P329S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GUncertain significance
Select item 2268631	NM_001492.6(GDF1):c.977C>G (p.Ala326Gly)	CERS1, GDF1 (A326G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099218	NM_001492.6(GDF1):c.938C>T (p.Pro313Leu)	CERS1, GDF1 (P313L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396179	NM_001492.6(GDF1):c.878C>T (p.Ala293Val)	CERS1, GDF1 (A293V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 985271	NM_001492.6(GDF1):c.787_814del (p.Pro263fs)	CERS1, GDF1 (P263fs)	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2536879	NM_001492.6(GDF1):c.772G>A (p.Val258Met)	CERS1, GDF1 (V258M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3281109	NM_001492.6(GDF1):c.761A>G (p.Asp254Gly)	CERS1, GDF1 (D254G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2229750	NM_001492.6(GDF1):c.761A>C (p.Asp254Ala)	CERS1, GDF1 (D254A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2338733	NM_001492.6(GDF1):c.661C>G (p.Pro221Ala)	CERS1, GDF1 (P221A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 471937	NM_001492.6(GDF1):c.658C>A (p.Arg220Ser)	GDF1, CERS1 (R220S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 985628	NM_001492.6(GDF1):c.608G>A (p.Trp203Ter)	CERS1, GDF1 (W203*)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 410639	NM_001492.6(GDF1):c.599G>A (p.Gly200Asp)	CERS1, GDF1 (G200D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2230936	NM_001492.6(GDF1):c.587C>G (p.Ala196Gly)	CERS1, GDF1 (A196G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2620645	NM_001492.6(GDF1):c.575C>T (p.Pro192Leu)	CERS1, GDF1 (P192L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099217	NM_001492.6(GDF1):c.437G>A (p.Arg146His)	CERS1, GDF1 (R146H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099216	NM_001492.6(GDF1):c.416C>T (p.Ala139Val)	CERS1, GDF1 (A139V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1101641	NM_001492.6(GDF1):c.412C>A (p.Pro138Thr)	CERS1, GDF1 (P138T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 410640	NM_001492.6(GDF1):c.404C>T (p.Ala135Val)	CERS1, GDF1 (A135V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3099215	NM_001492.6(GDF1):c.341C>T (p.Ala114Val)	CERS1, GDF1 (A114V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2542075	NM_001492.6(GDF1):c.329C>A (p.Ala110Glu)	CERS1, GDF1 (A110E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099213	NM_001492.6(GDF1):c.260T>C (p.Leu87Pro)	CERS1, GDF1 (L87P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099212	NM_001492.6(GDF1):c.250G>A (p.Gly84Arg)	CERS1, GDF1 (G84R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2256788	NM_001492.6(GDF1):c.149A>G (p.Gln50Arg)	CERS1, GDF1 (Q50R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2482453	NM_001492.6(GDF1):c.144G>T (p.Glu48Asp)	CERS1, GDF1 (E48D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1402617	NM_021267.5(CERS1):c.911C>T (p.Ala304Val)	CERS1, GDF1 (A289V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2323423	NM_021267.5(CERS1):c.902A>G (p.Tyr301Cys)	CERS1, GDF1 (Y286C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 475377	NM_021267.5(CERS1):c.857C>T (p.Ala286Val)	CERS1, GDF1 (A286V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 1402746	NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr)	CERS1, GDF1 (F282Y +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 1445214	NM_021267.5(CERS1):c.835C>A (p.Pro279Thr)	CERS1, GDF1 (P181T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1036463	NM_021267.5(CERS1):c.821C>T (p.Thr274Met)	CERS1, GDF1 (T259M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2409296	NM_021267.5(CERS1):c.809G>A (p.Cys270Tyr)	CERS1, GDF1 (C172Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 475376	NM_021267.5(CERS1):c.787G>A (p.Val263Ile)	CERS1, GDF1 (V263I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 2558985	NM_021267.5(CERS1):c.782T>C (p.Leu261Pro)	CERS1, GDF1 (L163P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 542126	NM_021267.5(CERS1):c.708T>A (p.His236Gln)	CERS1, GDF1 (H236Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 861075	NM_021267.5(CERS1):c.701G>A (p.Arg234Gln)	GDF1, CERS1 (R136Q +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 571809	NM_021267.5(CERS1):c.685G>A (p.Gly229Ser)	CERS1, GDF1 (G229S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1374905	NM_021267.5(CERS1):c.682C>T (p.Arg228Cys)	CERS1, GDF1 (R213C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3143153	NM_021267.5(CERS1):c.619T>C (p.Phe207Leu)	CERS1, GDF1 (F207L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325369	NM_021267.5(CERS1):c.611T>A (p.Leu204His)	CERS1, GDF1 (L106H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290146	NM_021267.5(CERS1):c.512C>T (p.Thr171Ile)	CERS1, GDF1 (T171I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 654724	NM_021267.5(CERS1):c.493G>A (p.Ala165Thr)	CERS1, GDF1 (A165T +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 967339	NM_021267.5(CERS1):c.443T>C (p.Ile148Thr)	CERS1, GDF1 (I50T +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 1514273	NM_021267.5(CERS1):c.349G>T (p.Ala117Ser)	CERS1, GDF1 (A19S +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 948837	NM_021267.5(CERS1):c.293A>G (p.Lys98Arg)	CERS1, GDF1 (K98R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 542127	NM_021267.5(CERS1):c.257C>T (p.Ala86Val)	CERS1, GDF1 (A86V)	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8 +2 more	GUncertain significance
Select item 2257564	NM_021267.5(CERS1):c.220C>A (p.Arg74Ser)	CERS1, GDF1 (R74S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143151	NM_021267.5(CERS1):c.214G>A (p.Ala72Thr)	CERS1, GDF1 (A72T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 844137	NM_021267.5(CERS1):c.178C>G (p.Leu60Val)	CERS1, GDF1 (L60V)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 542129	NM_021267.5(CERS1):c.164T>A (p.Leu55Gln)	CERS1, GDF1 (L55Q)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 3143150	NM_021267.5(CERS1):c.134C>T (p.Ala45Val)	CERS1, GDF1 (A45V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1391318	NM_021267.5(CERS1):c.133G>C (p.Ala45Pro)	CERS1, GDF1 (A45P)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 2323004	NM_021267.5(CERS1):c.124T>G (p.Trp42Gly)	CERS1, GDF1 (W42G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3266323	NM_021267.5(CERS1):c.101C>T (p.Ala34Val)	CERS1, GDF1 (A34V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408169	NM_021267.5(CERS1):c.72G>C (p.Gln24His)	CERS1, GDF1 (Q24H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408168	NM_021267.5(CERS1):c.71A>C (p.Gln24Pro)	CERS1, GDF1 (Q24P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2321428	NM_021267.5(CERS1):c.68T>G (p.Val23Gly)	CERS1, GDF1 (V23G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600222	NM_021267.5(CERS1):c.40G>A (p.Glu14Lys)	CERS1, GDF1 (E14K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 475369	NM_021267.5(CERS1):c.37C>T (p.Pro13Ser)	CERS1, GDF1 (P13S)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 3143152	NM_021267.5(CERS1):c.23C>T (p.Ala8Val)	CERS1, GDF1 (A8V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 542128	NM_021267.5(CERS1):c.16C>A (p.Pro6Thr)	CERS1, GDF1 (P6T)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +2 more	GConflicting classifications of pathogenicity

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Items: 64