LOC130000622[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	GPIHBP1, GPR20 +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	CYP11B2, CYP7A1 +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	ADAM28, ADRA1A +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	RB1CC1, RBIS +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	ARFGEF1, ARFGEF1-DT +245 more	Copy number gain	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 560150	Single allele	TMEM70, UBE2W +19 more	Deletion	Charcot-Marie-Tooth disease axonal type 2K	GUncertain significance
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 58992	GRCh38/hg38 8q21.11-21.13(chr8:73962355-74749460)x1	ELOC, GDAP1 +21 more	Copy number loss	See cases	GUncertain significance
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 379721	NM_018972.4(GDAP1):c.-20C>T	LOC130000622, GDAP1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 917008	NM_018972.4(GDAP1):c.-19C>T	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 1187014	NM_018972.4(GDAP1):c.-4C>G	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
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 637503	NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)	GDAP1, LOC130000622 (M1L)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 917004	NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)	GDAP1, LOC130000622 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
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 3595876	NM_018972.4(GDAP1):c.15_16delinsAT (p.Glu6Ter)	LOC130000622, GDAP1 (E6*)	Indel (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GLikely pathogenic
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 917001	NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)	GDAP1, LOC130000622 (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease	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 1303351	NM_018972.4(GDAP1):c.37C>T (p.Pro13Ser)	GDAP1, LOC130000622 (P13S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	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 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 242509	NM_018972.2:c.62delA	GDAP1, LOC130000622 (D21fs)	Deletion (5 prime UTR variant +2 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
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 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 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 4190	NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)	LOC130000622, GDAP1 (W31*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A	GConflicting classifications of pathogenicity
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 637556	NM_018972.4(GDAP1):c.100dup (p.Ser34fs)	GDAP1, LOC130000622 (S34fs)	Duplication (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637552	NM_018972.4(GDAP1):c.101C>G (p.Ser34Cys)	GDAP1, LOC130000622 (S34C)	Single nucleotide variant (5 prime UTR variant +2 more)	Autosomal dominant Charcot-Marie-Tooth disease type 2K +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 2444381	NM_018972.4(GDAP1):c.113A>G (p.Gln38Arg)	LOC130000622, GDAP1 (Q38R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive	GUncertain significance
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 804864	NM_018972.4(GDAP1):c.116A>G (p.Lys39Arg)	GDAP1, LOC130000622 (K39R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 637121	NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)	GDAP1, LOC130000622 (K39N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 670530	NM_018972.4(GDAP1):c.117+28G>A	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4A +5 more	GBenign

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Items: 80