ClinVar for MedGen (Select 347821) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245508	NC_000008.10:g.(?_75262697)_(75263721_?)dup	GDAP1	Duplication	Charcot-Marie-Tooth disease type 4A	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)	not provided +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)	GDAP1, LOC130000622 (R9G)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4A +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	GPathogenic
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
Select item 2157014	NM_018972.4(GDAP1):c.695-19T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2149001	NM_018972.4(GDAP1):c.117+19G>A	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2146048	NM_018972.4(GDAP1):c.913C>T (p.Leu305=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2127545	NM_018972.4(GDAP1):c.975G>A (p.Val325=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2112081	NM_018972.4(GDAP1):c.96G>T (p.Thr32=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2109982	NM_018972.4(GDAP1):c.484+6_484+19dup	GDAP1	Duplication (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2101248	NM_018972.4(GDAP1):c.118-9C>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2099188	NM_018972.4(GDAP1):c.549del (p.Ala184fs)	GDAP1 (A116fs +3 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2089246	NM_018972.4(GDAP1):c.367del (p.His123fs)	GDAP1 (H14fs +2 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2077366	NM_018972.4(GDAP1):c.238C>T (p.Leu80Phe)	GDAP1 (L12F +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2076730	NM_018972.4(GDAP1):c.257T>A (p.Ile86Lys)	GDAP1 (I86K +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 2054594	NM_018972.4(GDAP1):c.484+19G>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2052735	NM_018972.4(GDAP1):c.456C>G (p.Ile152Met)	GDAP1 (I84M +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2047778	NM_018972.4(GDAP1):c.921A>G (p.Thr307=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2038602	NM_018972.4(GDAP1):c.456C>T (p.Ile152=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2028969	NM_018972.4(GDAP1):c.934del (p.Ala312fs)	GDAP1 (A244fs +3 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2020187	NM_018972.4(GDAP1):c.694+8C>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 2020158	NM_018972.4(GDAP1):c.117+3A>G	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2017087	NM_018972.4(GDAP1):c.118-8T>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2016495	NM_018972.4(GDAP1):c.484+3A>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2004748	NM_018972.4(GDAP1):c.857G>C (p.Arg286Thr)	GDAP1 (R228T +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2001343	NM_018972.4(GDAP1):c.178T>G (p.Leu60Val)	GDAP1 (L60V)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 2000577	NM_018972.4(GDAP1):c.1del (p.Met1fs)	GDAP1, LOC130000622 (M1fs)	Deletion (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 2000333	NM_018972.4(GDAP1):c.485-2del	GDAP1	Deletion (splice acceptor variant)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
Select item 1971176	NM_018972.4(GDAP1):c.244C>A (p.His82Asn)	GDAP1 (H82N +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1966428	NM_018972.4(GDAP1):c.118-15T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1963868	NM_018972.4(GDAP1):c.446A>C (p.Asp149Ala)	GDAP1 (D149A +2 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1945820	NM_018972.4(GDAP1):c.1048G>A (p.Ala350Thr)	GDAP1 (A241T +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1938409	NM_018972.4(GDAP1):c.580-15T>C	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1924534	NM_018972.4(GDAP1):c.391T>C (p.Leu131=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1904746	NM_018972.4(GDAP1):c.311-11G>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1903750	NM_018972.4(GDAP1):c.921A>C (p.Thr307=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1901969	NM_018972.4(GDAP1):c.200G>T (p.Trp67Leu)	GDAP1 (W67L)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1896151	NM_018972.4(GDAP1):c.506C>T (p.Ser169Phe)	GDAP1 (S101F +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1768249	NM_018972.4(GDAP1):c.97C>T (p.His33Tyr)	GDAP1, LOC130000622 (H33Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 1756027	NM_018972.4(GDAP1):c.689C>G (p.Thr230Ser)	GDAP1 (T230S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1748547	NM_018972.4(GDAP1):c.55A>G (p.Lys19Glu)	GDAP1, LOC130000622 (K19E)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1740007	NM_018972.4(GDAP1):c.1014G>A (p.Met338Ile)	GDAP1 (M229I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1733678	NM_018972.4(GDAP1):c.363ACA[1] (p.Gln122del)	GDAP1 (Q122del +2 more)	Microsatellite (inframe_deletion +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1722156	NM_018972.4(GDAP1):c.643G>T (p.Val215Phe)	GDAP1 (V106F +3 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1721548	NM_018972.4(GDAP1):c.793A>G (p.Arg265Gly)	GDAP1 (R156G +3 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance

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