ClinVar for Gene (Select 10715) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377285	NM_001492.6(GDF1):c.91_98dup (p.Gly34fs)	CERS1, GDF1 (G34fs)	Duplication (3 prime UTR variant +1 more)	Right atrial isomerism	GLikely pathogenic
Select item 3370235	NM_001492.6(GDF1):c.187T>C (p.Trp63Arg)	CERS1, GDF1 (W63R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3367614	NM_001492.6(GDF1):c.1066G>A (p.Val356Met)	CERS1, GDF1 (V356M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363746	NM_001492.6(GDF1):c.328G>A (p.Ala110Thr)	CERS1, GDF1 (A110T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3356293	NM_001492.6(GDF1):c.817T>C (p.Tyr273His)	CERS1, GDF1 (Y273H)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 3355179	NM_001492.6(GDF1):c.861G>A (p.Ala287=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 3353344	NM_001492.6(GDF1):c.1087G>C (p.Asp363His)	CERS1, GDF1 (D363H)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 3342047	NM_001492.6(GDF1):c.786C>T (p.Gly262=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3337141	NM_001492.6(GDF1):c.1076G>A (p.Arg359Gln)	CERS1, GDF1 (R359Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 3068966	NM_001492.6(GDF1):c.757C>T (p.Arg253Cys)	CERS1, GDF1 (R253C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 3053983	NM_001492.6(GDF1):c.665G>A (p.Arg222Gln)	CERS1, GDF1 (R222Q)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 3050799	NM_001492.6(GDF1):c.267G>A (p.Pro89=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 3049686	NM_021267.5(CERS1):c.729C>T (p.Gly243=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	CERS1-related disorder	GLikely benign
Select item 3047464	NM_001492.6(GDF1):c.-263C>T	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 3029611	NM_001492.6(GDF1):c.546G>T (p.Leu182=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GLikely benign
Select item 3022323	NM_021267.5(CERS1):c.590+14C>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 3018188	NM_001492.6(GDF1):c.933dup (p.Pro312fs)	CERS1, GDF1 (P312fs)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3013684	NM_001492.6(GDF1):c.354C>T (p.Ala118=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2994224	NM_021267.5(CERS1):c.753-17G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2970747	NM_021267.5(CERS1):c.118T>G (p.Cys40Gly)	CERS1, GDF1 (C40G)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2969420	NM_001492.6(GDF1):c.171G>C (p.Pro57=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2968531	NM_001492.6(GDF1):c.927C>T (p.Ser309=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2966051	NM_021267.5(CERS1):c.901-17C>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2920042	NM_021267.5(CERS1):c.249+14G>T	CERS1, GDF1	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2918190	NM_021267.5(CERS1):c.940G>T (p.Val314Leu)	CERS1, GDF1 (V299L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2913980	NM_021267.5(CERS1):c.630T>C (p.Asp210=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2899255	NM_001492.6(GDF1):c.1035C>T (p.Ile345=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2878553	NM_001492.6(GDF1):c.864G>A (p.Pro288=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2874371	NM_021267.5(CERS1):c.402C>T (p.Val134=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2865497	NM_021267.5(CERS1):c.249+19C>T	CERS1, GDF1	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2809262	NM_021267.5(CERS1):c.1011-5C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2808042	NM_021267.5(CERS1):c.288C>T (p.Ala96=)	CERS1, GDF1	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2803865	NM_021267.5(CERS1):c.579C>T (p.Ser193=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2790454	NM_021267.5(CERS1):c.506T>C (p.Met169Thr)	CERS1, GDF1 (M71T +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2785110	NM_001492.6(GDF1):c.834G>A (p.Glu278=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2779736	NM_021267.5(CERS1):c.250-15T>C	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2769503	NM_021267.5(CERS1):c.996G>A (p.Lys332=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2760203	NM_021267.5(CERS1):c.375C>T (p.Tyr125=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2754682	NM_021267.5(CERS1):c.900+14G>A	GDF1, CERS1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2742076	NM_021267.5(CERS1):c.900+13C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2741290	NM_001492.6(GDF1):c.345G>A (p.Ser115=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2739029	NM_001492.6(GDF1):c.849C>G (p.Arg283=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2737779	NM_001492.6(GDF1):c.1043T>C (p.Leu348Pro)	GDF1, CERS1 (L348P)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2725840	NM_001492.6(GDF1):c.372C>T (p.Cys124=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2714229	NM_021267.5(CERS1):c.78C>T (p.Gly26=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2710790	NM_021267.5(CERS1):c.901-8T>C	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2698244	NM_021267.5(CERS1):c.594C>T (p.Tyr198=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2689124	NM_001492.6(GDF1):c.811C>T (p.Arg271Trp)	CERS1, GDF1 (R271W)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2687842	NM_001492.6(GDF1):c.768_823del (p.Pro257fs)	CERS1, GDF1 (P257fs)	Deletion (3 prime UTR variant +1 more)	not specified	GLikely pathogenic
Select item 2663906	NM_001492.6(GDF1):c.[1008C>G];[681C>A]			Right atrial isomerism	GLikely pathogenic
Select item 2663905	NM_001492.6(GDF1):c.1008C>G (p.Cys336Trp)	CERS1, GDF1 +1 more (C336W)	Single nucleotide variant (3 prime UTR variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2632124	NM_001492.6(GDF1):c.136C>T (p.Arg46Cys)	CERS1, GDF1 (R46C)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 2630294	NM_001492.6(GDF1):c.620_621delinsTT (p.Ala207Val)	CERS1, GDF1 (A207V)	Indel (3 prime UTR variant +1 more)	GDF1-related disorder	GUncertain significance
Select item 2629019	NM_001492.6(GDF1):c.934C>G (p.Pro312Ala)	CERS1, GDF1 (P312A)	Single nucleotide variant (3 prime UTR variant +1 more)	GDF1-related disorder	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 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 2577724	NM_001492.6(GDF1):c.431G>A (p.Arg144Gln)	CERS1, GDF1 (R144Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2576542	NM_001492.6(GDF1):c.537del (p.Pro180fs)	CERS1, GDF1 (P180fs)	Deletion (3 prime UTR variant +1 more)	Congenital heart defects, multiple types, 6	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 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 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 2504463	NM_001492.6(GDF1):c.586G>A (p.Ala196Thr)	CERS1, GDF1 (A196T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
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 2444827	NM_001492.6(GDF1):c.214dup (p.Gln72fs)	CERS1, GDF1 (Q72fs)	Duplication (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2444799	NM_001492.6(GDF1):c.418G>C (p.Glu140Gln)	CERS1, GDF1 (E140Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2432096	NM_001492.6(GDF1):c.572G>C (p.Gly191Ala)	CERS1, GDF1 (G191A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2432095	NM_001492.6(GDF1):c.275T>C (p.Val92Ala)	CERS1, GDF1 (V92A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2432094	NM_001492.6(GDF1):c.645GGCGCT[1] (p.216AL[1])	CERS1, GDF1	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2415645	NM_001492.6(GDF1):c.637C>T (p.Leu213Phe)	CERS1, GDF1 (L213F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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