"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "GDAP1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 658994	NC_000008.10:g.(?_74888497)_(75274233_?)dup	GDAP1, JPH1 +13 more	Duplication	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1168527	NC_000008.11:g.74350373_74350374del	GDAP1	Deletion	Charcot-Marie-Tooth disease type 4A	GBenign
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, axonal, with vocal cord paresis, autosomal recessive +3 more	GPathogenic
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 467766	NM_018972.4(GDAP1):c.5C>G (p.Ala2Gly)	GDAP1, LOC130000622 (A2G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 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 1455723	NM_018972.4(GDAP1):c.13C>T (p.Gln5Ter)	GDAP1, LOC130000622 (Q5*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 700393	NM_018972.4(GDAP1):c.21G>A (p.Glu7=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1076570	NM_018972.4(GDAP1):c.22C>T (p.Gln8Ter)	GDAP1, LOC130000622 (Q8*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 1458809	NM_018972.4(GDAP1):c.27_28del (p.Gly10fs)	GDAP1, LOC130000622 (G10fs)	Microsatellite (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 245605	NM_018972.4(GDAP1):c.23A>G (p.Gln8Arg)	GDAP1, LOC130000622 (Q8R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
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 467759	NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg)	GDAP1, LOC130000622 (S11R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1104587	NM_018972.4(GDAP1):c.39C>T (p.Pro13=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 1139065	NM_018972.4(GDAP1):c.45G>A (p.Arg15=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
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 855964	NM_018972.4(GDAP1):c.58G>A (p.Ala20Thr)	LOC130000622, GDAP1 (A20T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1518889	NM_018972.4(GDAP1):c.61G>A (p.Asp21Asn)	GDAP1, LOC130000622 (D21N)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
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 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 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 934706	NM_018972.4(GDAP1):c.70G>T (p.Val24Phe)	GDAP1, LOC130000622 (V24F)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1625363	NM_018972.4(GDAP1):c.72T>G (p.Val24=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 467769	NM_018972.4(GDAP1):c.72T>C (p.Val24=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 917089	NM_018972.4(GDAP1):c.75G>A (p.Lys25=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	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 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 567568	NM_018972.4(GDAP1):c.86A>C (p.Tyr29Ser)	GDAP1, LOC130000622 (Y29S)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 418229	NM_018972.4(GDAP1):c.89A>T (p.His30Leu)	GDAP1, LOC130000622 (H30L)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 467775	NM_018972.4(GDAP1):c.90T>C (p.His30=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GBenign/Likely 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 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 695131	NM_018972.4(GDAP1):c.102= (p.Ser34=)	GDAP1, LOC130000622	Variation (no sequence alteration +1 more)	Charcot-Marie-Tooth disease type 4A +1 more	GBenign
Select item 467755	NM_018972.4(GDAP1):c.102C>G (p.Ser34=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GBenign
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 467756	NM_018972.4(GDAP1):c.106A>C (p.Ser36Arg)	GDAP1, LOC130000622 (S36R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	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 426898	NM_018972.4(GDAP1):c.109T>A (p.Ser37Thr)	LOC130000622, GDAP1 (S37T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 569560	NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	GDAP1, LOC130000622 (Q38*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease +1 more	GPathogenic/Likely pathogenic
Select item 637504	NM_018972.4(GDAP1):c.116del (p.Lys39fs)	GDAP1, LOC130000622 (K39fs)	Deletion (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 1067546	NM_018972.4(GDAP1):c.117+1G>A	GDAP1, LOC130000622	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
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 698455	NM_018972.4(GDAP1):c.117+10G>A	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GLikely benign
Select item 506605	NM_018972.4(GDAP1):c.117+12C>G	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely 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 917007	NM_018972.4(GDAP1):c.118-16G>A	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A +1 more	GLikely benign
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 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 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 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 660532	NM_018972.4(GDAP1):c.118-3C>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 699217	NM_018972.4(GDAP1):c.120G>A (p.Val40=)	GDAP1	Single nucleotide variant (5 prime UTR variant +2 more)	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 1054991	NM_018972.4(GDAP1):c.151T>C (p.Cys51Arg)	GDAP1 (C51R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 1036294	NM_018972.4(GDAP1):c.153C>T (p.Cys51=)	GDAP1	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 467757	NM_018972.4(GDAP1):c.161A>G (p.His54Arg)	GDAP1 (H54R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 747148	NM_018972.4(GDAP1):c.165T>C (p.Asp55=)	GDAP1	Single nucleotide variant (5 prime UTR variant +2 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 1005685	NM_018972.4(GDAP1):c.166G>A (p.Val56Ile)	GDAP1 (V56I)	Single nucleotide variant (5 prime UTR variant +3 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 216706	NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)	GDAP1 (S57R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GConflicting classifications of pathogenicity
Select item 834186	NM_018972.4(GDAP1):c.171T>G (p.Ser57Arg)	GDAP1 (S57R)	Single nucleotide variant (5 prime UTR variant +2 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 982611	NM_018972.4(GDAP1):c.182G>A (p.Ser61Asn)	GDAP1 (S61N)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GUncertain significance
Select item 1497027	NM_018972.4(GDAP1):c.191A>G (p.Asn64Ser)	GDAP1 (N64S)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 851263	NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys)	GDAP1 (E65K)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GConflicting classifications of pathogenicity
Select item 1491416	NM_018972.4(GDAP1):c.196C>T (p.Pro66Ser)	GDAP1 (P66S)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
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 917003	NM_018972.4(GDAP1):c.207G>A (p.Met69Ile)	GDAP1 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1011867	NM_018972.4(GDAP1):c.209G>T (p.Arg70Leu)	GDAP1 (R2L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 413759	NM_018972.4(GDAP1):c.216C>T (p.Asn72=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A +1 more	GLikely benign
Select item 535794	NM_018972.4(GDAP1):c.225A>G (p.Gly75=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1071208	NM_018972.4(GDAP1):c.235_239del (p.Val79fs)	GDAP1 (V11fs +1 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 1122484	NM_018972.4(GDAP1):c.243C>T (p.Ile81=)	GDAP1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4A	GLikely benign
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 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 1452369	NM_018972.4(GDAP1):c.250del (p.Glu84fs)	GDAP1 (E16fs +1 more)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 644035	NM_018972.4(GDAP1):c.247G>A (p.Gly83Arg)	GDAP1 (G83R +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 155752	NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)	GDAP1 (G83A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1714960	NM_018972.4(GDAP1):c.250G>C (p.Glu84Gln)	GDAP1 (E16Q +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 963756	NM_018972.4(GDAP1):c.250G>T (p.Glu84Ter)	GDAP1 (E16* +1 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 568895	NM_018972.4(GDAP1):c.256A>G (p.Ile86Val)	GDAP1 (I86V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 1355337	NM_018972.4(GDAP1):c.259A>G (p.Ile87Val)	GDAP1 (I19V +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 535792	NM_018972.4(GDAP1):c.260T>C (p.Ile87Thr)	GDAP1 (I87T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961178	NM_018972.4(GDAP1):c.302T>A (p.Phe101Tyr)	GDAP1 (F33Y +1 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4A	GUncertain significance
Select item 937106	NM_018972.4(GDAP1):c.310+1G>A	GDAP1	Single nucleotide variant (splice donor variant +1 more)	Charcot-Marie-Tooth disease type 4A	GPathogenic
Select item 848090	NM_018972.4(GDAP1):c.310+4A>G	GDAP1	Single nucleotide variant (intron variant)	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 245606	NM_018972.4(GDAP1):c.310+6del	GDAP1	Deletion (intron variant)	Charcot-Marie-Tooth with Vocal Cord Paresis +6 more	GConflicting classifications of pathogenicity
Select item 535793	NM_018972.4(GDAP1):c.310+8del	GDAP1	Deletion (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 406138	NM_018972.4(GDAP1):c.311-1790_408del	GDAP1	Deletion (splice acceptor variant +2 more)	Charcot-Marie-Tooth disease type 4A	GLikely pathogenic
Select item 984796	NM_018972.4(GDAP1):c.311-15G>A	GDAP1	Single nucleotide variant (intron variant)	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 2824280	NM_018972.4(GDAP1):c.311-6T>G	GDAP1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A	GUncertain significance

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