Related gene-specific medical variations for Gene (Select 2657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068966	NM_001492.6(GDF1):c.757C>T (p.Arg253Cys)	GDF1, CERS1 (R253C)	Single nucleotide variant (3 prime UTR variant +1 more)	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 condition	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 condition	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 condition	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 condition	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 condition	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	CERS1, GDF1	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)	CERS1, GDF1 (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 (5 prime UTR 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 condition	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 condition	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 condition	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)	Inborn genetic diseases	GUncertain significance
Select item 2600222	NM_021267.5(CERS1):c.40G>A (p.Glu14Lys)	CERS1, GDF1 (E14K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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 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)	GDF1, CERS1 (C172Y +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408169	NM_021267.5(CERS1):c.72G>C (p.Gln24His)	CERS1, GDF1 (Q24H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2408168	NM_021267.5(CERS1):c.71A>C (p.Gln24Pro)	CERS1, GDF1 (Q24P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	GDF1-related condition +1 more	GUncertain significance
Select item 2338733	NM_001492.6(GDF1):c.661C>G (p.Pro221Ala)	GDF1, CERS1 (P221A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2323423	NM_021267.5(CERS1):c.902A>G (p.Tyr301Cys)	GDF1, CERS1 (Y286C +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2323004	NM_021267.5(CERS1):c.124T>G (p.Trp42Gly)	GDF1, CERS1 (W42G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321428	NM_021267.5(CERS1):c.68T>G (p.Val23Gly)	CERS1, GDF1 (V23G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2268631	NM_001492.6(GDF1):c.977C>G (p.Ala326Gly)	GDF1, CERS1 (A326G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2257564	NM_021267.5(CERS1):c.220C>A (p.Arg74Ser)	GDF1, CERS1 (R74S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256788	NM_001492.6(GDF1):c.149A>G (p.Gln50Arg)	GDF1, CERS1 (Q50R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2201168	NM_021267.5(CERS1):c.951G>A (p.Leu317=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2200829	NM_021267.5(CERS1):c.39C>G (p.Pro13=)	GDF1, CERS1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2199509	NM_021267.5(CERS1):c.192G>T (p.Ala64=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2199313	NM_021267.5(CERS1):c.846C>T (p.Phe282=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2195161	NM_021267.5(CERS1):c.249+7G>A	CERS1, GDF1	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2183589	NM_021267.5(CERS1):c.900+7C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2164667	NM_021267.5(CERS1):c.195C>T (p.Leu65=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2157979	NM_021267.5(CERS1):c.250-4A>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2154776	NM_021267.5(CERS1):c.518G>A (p.Arg173His)	CERS1, GDF1 (R173H +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2152441	NM_021267.5(CERS1):c.198C>G (p.Gly66=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2151436	NM_021267.5(CERS1):c.37C>A (p.Pro13Thr)	GDF1, CERS1 (P13T)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2144640	NM_021267.5(CERS1):c.667A>G (p.Ile223Val)	CERS1, GDF1 (I125V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2115426	NM_021267.5(CERS1):c.586T>A (p.Phe196Ile)	CERS1, GDF1 (F196I +1 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2104069	NM_001492.6(GDF1):c.517G>A (p.Gly173Ser)	CERS1, GDF1 (G173S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2099135	NM_001492.6(GDF1):c.738C>T (p.His246=)	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097110	NM_021267.5(CERS1):c.1011-4C>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2094037	NM_021267.5(CERS1):c.984C>G (p.Ala328=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2093063	NM_021267.5(CERS1):c.753-3C>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2092811	NM_021267.5(CERS1):c.250-20G>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2091545	NM_021267.5(CERS1):c.634A>G (p.Ser212Gly)	CERS1, GDF1 (S212G +1 more)	Single nucleotide variant (missense variant +3 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2089897	NM_021267.5(CERS1):c.591-8T>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2083695	NM_021267.5(CERS1):c.900+11C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign

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