ClinVar for MedGen (Select 347821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3720400	NM_018972.4(GDAP1):c.96G>C (p.Thr32=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3717005	NM_018972.4(GDAP1):c.20A>G (p.Glu7Gly)	GDAP1, LOC130000622 (E7G)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3715911	NM_018972.4(GDAP1):c.32G>T (p.Ser11Ile)	GDAP1, LOC130000622 (S11I)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3712953	NM_018972.4(GDAP1):c.178T>C (p.Leu60=)	GDAP1	Single nucleotide variant (intron variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3707893	NM_018972.4(GDAP1):c.117+18G>C	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3706736	NM_018972.4(GDAP1):c.546A>G (p.Gln182=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3702966	NM_018972.4(GDAP1):c.264T>C (p.Cys88=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3684294	NM_018972.4(GDAP1):c.582A>G (p.Ser194=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3682756	NM_018972.4(GDAP1):c.44G>A (p.Arg15Lys)	GDAP1, LOC130000622 (R15K)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3676760	NM_018972.4(GDAP1):c.363A>C (p.Val121=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3675746	NM_018972.4(GDAP1):c.96G>A (p.Thr32=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3674724	NM_018972.4(GDAP1):c.66G>T (p.Ala22=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3674071	NM_018972.4(GDAP1):c.117+12C>T	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3673410	NM_018972.4(GDAP1):c.645C>T (p.Val215=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3673171	NM_018972.4(GDAP1):c.271A>G (p.Thr91Ala)	GDAP1 (T23A +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3669785	NM_018972.4(GDAP1):c.175C>T (p.Pro59Ser)	GDAP1 (P59S)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3668559	NM_018972.4(GDAP1):c.117+4C>A	LOC130000622, GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3663846	NM_018972.4(GDAP1):c.579+13_579+14dup	GDAP1	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3663629	NM_018972.4(GDAP1):c.695-3T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3661076	NM_018972.4(GDAP1):c.1026G>A (p.Lys342=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3657007	NM_018972.4(GDAP1):c.389C>T (p.Ser130Phe)	GDAP1 (S130F +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3656065	NM_018972.4(GDAP1):c.305T>C (p.Leu102Pro)	GDAP1 (L102P +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3651375	NM_018972.4(GDAP1):c.112C>G (p.Gln38Glu)	GDAP1, LOC130000622 (Q38E)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3643714	NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)	GDAP1 (E124* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 3641961	NM_018972.4(GDAP1):c.121C>A (p.Arg41Ser)	GDAP1 (R41S)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3638626	NM_018972.4(GDAP1):c.722G>A (p.Gly241Asp)	GDAP1 (G241D +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3630675	NM_018972.4(GDAP1):c.717C>T (p.Leu239=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3628036	NM_018972.4(GDAP1):c.304C>G (p.Leu102Val)	GDAP1 (L102V +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3626339	NM_018972.4(GDAP1):c.292G>A (p.Glu98Lys)	GDAP1 (E30K +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3625839	NM_018972.4(GDAP1):c.442G>A (p.Val148Met)	GDAP1 (V148M +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3625354	NM_018972.4(GDAP1):c.246C>T (p.His82=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3612962	NM_018972.4(GDAP1):c.485-16A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3608380	NM_018972.4(GDAP1):c.552A>G (p.Ala184=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3595880	NM_018972.4(GDAP1):c.966dup (p.Thr323fs)	GDAP1 (T214fs +3 more)	Duplication (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A +3 more	GLikely pathogenic
Select item 3595879	NM_018972.4(GDAP1):c.400del (p.Asp134fs)	GDAP1 (D25fs +2 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A +3 more	GPathogenic
Select item 3595877	NM_018972.4(GDAP1):c.77T>G (p.Leu26Arg)	GDAP1, LOC130000622 (L26R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GLikely pathogenic
Select item 3595876	NM_018972.4(GDAP1):c.15_16delinsAT (p.Glu6Ter)	GDAP1, LOC130000622 (E6*)	Indel (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GLikely pathogenic
Select item 3379825	NM_018972.4(GDAP1):c.397A>G (p.Met133Val)	GDAP1 (M133V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3281097	NM_018972.4(GDAP1):c.311A>G (p.Glu104Gly)	GDAP1 (E36G +1 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 3245508	NC_000008.10:g.(?_75262697)_(75263721_?)dup	GDAP1	Duplication	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 3063748	NM_018972.4(GDAP1):c.345C>G (p.Ser115Arg)	GDAP1 (S115R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3014833	NM_018972.4(GDAP1):c.39C>A (p.Pro13=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3010045	NM_018972.4(GDAP1):c.912G>T (p.Val304=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 3008174	NM_018972.4(GDAP1):c.65C>T (p.Ala22Val)	GDAP1, LOC130000622 (A22V)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2994670	NM_018972.4(GDAP1):c.310+5T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2979981	NM_018972.4(GDAP1):c.966G>A (p.Thr322=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2969870	NM_018972.4(GDAP1):c.975G>T (p.Val325=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2967161	NM_018972.4(GDAP1):c.618G>A (p.Lys206=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2962909	NM_018972.4(GDAP1):c.608A>G (p.Lys203Arg)	GDAP1 (K145R +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2959635	NM_018972.4(GDAP1):c.245A>G (p.His82Arg)	GDAP1 (H14R +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2920532	NM_018972.4(GDAP1):c.477G>T (p.Arg159Ser)	GDAP1 (R91S +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2917916	NM_018972.4(GDAP1):c.1067A>G (p.Asn356Ser)	GDAP1 (N247S +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2914453	NM_018972.4(GDAP1):c.945G>C (p.Arg315Ser)	GDAP1 (R206S +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2913575	NM_018972.4(GDAP1):c.672A>G (p.Gln224=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2891349	NM_018972.4(GDAP1):c.697G>A (p.Glu233Lys)	GDAP1 (E175K +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2887539	NM_018972.4(GDAP1):c.716T>A (p.Leu239His)	GDAP1 (L130H +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2885051	NM_018972.4(GDAP1):c.934G>A (p.Ala312Thr)	GDAP1 (A254T +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2877924	NM_018972.4(GDAP1):c.105C>T (p.Phe35=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2868300	NM_018972.4(GDAP1):c.947C>A (p.Ala316Asp)	GDAP1 (A248D +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2866654	NM_018972.4(GDAP1):c.449C>T (p.Ser150Phe)	GDAP1 (S150F +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2862783	NM_018972.4(GDAP1):c.694+3A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2861066	NM_018972.4(GDAP1):c.6T>C (p.Ala2=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2855420	NM_018972.4(GDAP1):c.360G>A (p.Arg120=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2854201	NM_018972.4(GDAP1):c.85T>G (p.Tyr29Asp)	GDAP1, LOC130000622 (Y29D)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2851151	NM_018972.4(GDAP1):c.484+20A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2851025	NM_018972.4(GDAP1):c.310+20C>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2828448	NM_018972.4(GDAP1):c.930G>A (p.Arg310=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2826779	NM_018972.4(GDAP1):c.666A>G (p.Glu222=)	GDAP1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2824280	NM_018972.4(GDAP1):c.311-6T>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2815780	NM_018972.4(GDAP1):c.550dup (p.Ala184fs)	GDAP1 (A116fs +3 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2804730	NM_018972.4(GDAP1):c.485-17A>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2801876	NM_018972.4(GDAP1):c.139A>T (p.Lys47Ter)	GDAP1 (K47*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2800752	NM_018972.4(GDAP1):c.866T>A (p.Phe289Tyr)	GDAP1 (F180Y +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2793065	NM_018972.4(GDAP1):c.65C>G (p.Ala22Gly)	GDAP1, LOC130000622 (A22G)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2760750	NM_018972.4(GDAP1):c.118-7C>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2760058	NM_018972.4(GDAP1):c.897A>G (p.Ile299Met)	GDAP1 (I231M +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2759780	NM_018972.4(GDAP1):c.11G>A (p.Arg4Lys)	GDAP1, LOC130000622 (R4K)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 2759481	NM_018972.4(GDAP1):c.108C>A (p.Ser36Arg)	GDAP1, LOC130000622 (S36R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2756145	NM_018972.4(GDAP1):c.111T>G (p.Ser37=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2754940	NM_018972.4(GDAP1):c.689C>T (p.Thr230Ile)	GDAP1 (T230I +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2749511	NM_018972.4(GDAP1):c.66G>A (p.Ala22=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2742953	NM_018972.4(GDAP1):c.215A>G (p.Asn72Ser)	GDAP1 (N72S +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2741411	NM_018972.4(GDAP1):c.458C>A (p.Pro153Gln)	GDAP1 (P44Q +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2735575	NM_018972.4(GDAP1):c.756T>C (p.Ala252=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2730373	NM_018972.4(GDAP1):c.167dup (p.Ser57fs)	GDAP1 (S57fs)	Duplication (5 prime UTR variant +3 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2728701	NM_018972.4(GDAP1):c.491T>C (p.Ile164Thr)	GDAP1 (I106T +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2724844	NM_018972.4(GDAP1):c.395del (p.Pro132fs)	GDAP1 (P64fs +2 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2702768	NM_018972.4(GDAP1):c.346A>T (p.Met116Leu)	GDAP1 (M116L +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2692933	NM_018972.4(GDAP1):c.311-6T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2584969	NM_018972.4(GDAP1):c.246_256del (p.Gly83fs)	GDAP1 (G83fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
Select item 2581457	NM_018972.4(GDAP1):c.118-1G>A	GDAP1	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
Select item 2581319	NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)	LOC130000622, GDAP1 (R9G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2423924	NM_018972.4(GDAP1):c.1A>G (p.Met1Val)	GDAP1, LOC130000622 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GPathogenic
Select item 2387027	NM_018972.4(GDAP1):c.841G>A (p.Glu281Lys)	GDAP1 (E213K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2199923	NM_018972.4(GDAP1):c.387C>T (p.Asp129=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2176526	NM_018972.4(GDAP1):c.714G>A (p.Trp238Ter)	GDAP1 (W180* +3 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2173600	NM_018972.4(GDAP1):c.695-20A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2172181	NM_018972.4(GDAP1):c.966G>C (p.Thr322=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2161443	NM_018972.4(GDAP1):c.77T>C (p.Leu26Pro)	GDAP1, LOC130000622 (L26P)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 2159669	NM_018972.4(GDAP1):c.951A>C (p.Pro317=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign

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