19125[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59437	GRCh38/hg38 12p11.21(chr12:32104351-32622343)x1	BICD1, BICD1-AS1 +16 more	Copy number loss	See cases	GUncertain significance
Select item 802832	NM_001370298.3(FGD4):c.42C>G (p.Ile14Met)	FGD4 (I41M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4H	GBenign
Select item 1705221	NM_001370298.3(FGD4):c.166+1G>A	FGD4	Single nucleotide variant (splice donor variant +1 more)	not specified	GUncertain significance
Select item 587565	NM_001370298.3(FGD4):c.167-77996del	FGD4 (G3fs)	Deletion (frameshift variant +3 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 368992	NM_001370298.3(FGD4):c.167-62037C>A	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 881734	NM_001370298.3(FGD4):c.167-62008C>A	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881735	NM_001370298.3(FGD4):c.167-62001C>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308276	NM_001370298.3(FGD4):c.167-62000T>C	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 881736	NM_001370298.3(FGD4):c.167-61986C>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308277	NM_001370298.3(FGD4):c.167-61986C>T	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 308278	NM_001370298.3(FGD4):c.167-61974A>C	FGD4	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308279	NM_001370298.3(FGD4):c.167-61923G>A	FGD4	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308280	NM_001370298.3(FGD4):c.167-61842A>G	FGD4	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 308281	NM_001370298.3(FGD4):c.167-61799G>C	FGD4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 308282	NM_001370298.3(FGD4):c.167-61790C>T	FGD4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806857	NM_001370298.3(FGD4):c.167-29728T>C	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1284800	NM_001370298.3(FGD4):c.167-29719A>G	FGD4	Single nucleotide variant (5 prime UTR variant +1 more)	FGD4-related disorder	GBenign
Select item 1293247	NM_001370298.3(FGD4):c.167-226G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262570	NM_001370298.3(FGD4):c.167-111_167-106del	FGD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1183592	NM_001370298.3(FGD4):c.167-83T>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187418	NM_001370298.3(FGD4):c.167-60T>C	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 392193	NM_001370298.3(FGD4):c.176C>G (p.Thr59Ser)	FGD4 (T7S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 308283	NM_001370298.3(FGD4):c.268A>T (p.Ile90Leu)	FGD4 (I38L +1 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4H	GUncertain significance
Select item 373492	NM_001370298.3(FGD4):c.319+1G>A	FGD4	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 673454	NM_001370298.3(FGD4):c.320-339A>G	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 308284	NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)	FGD4 (P74T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 681514	NM_001370298.3(FGD4):c.378C>A (p.Pro126=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 464402	NC_000012.11:g.(?_32729272)_(33049685_?)dup	DNM1L, FGD4 +7 more	Duplication	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 584336	NC_000012.12:g.(?_32576352)_(32619876_?)del	FGD4	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 1022763	NM_001370298.3(FGD4):c.412A>G (p.Met138Val)	FGD4 (M138V +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1627566	NM_001370298.3(FGD4):c.417G>A (p.Glu139=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1021469	NM_001370298.3(FGD4):c.430G>A (p.Ala144Thr)	FGD4 (A144T +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 944460	NM_001370298.3(FGD4):c.431C>G (p.Ala144Gly)	FGD4 (A7G +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1020516	NM_001370298.3(FGD4):c.433T>C (p.Ser145Pro)	FGD4 (S145P +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4 +1 more	GConflicting classifications of pathogenicity
Select item 3094634	NM_001370298.3(FGD4):c.434C>T (p.Ser145Phe)	FGD4 (S8F +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2900739	NM_001370298.3(FGD4):c.435T>A (p.Ser145=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1118332	NM_001370298.3(FGD4):c.441T>C (p.Ser147=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1355441	NM_001370298.3(FGD4):c.457A>G (p.Lys153Glu)	FGD4 (K16E +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 246146	NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)	FGD4 (P17R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 745429	NM_001370298.3(FGD4):c.468G>A (p.Lys156=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 476944	NM_001370298.3(FGD4):c.469G>A (p.Val157Ile)	FGD4 (V20I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 941977	NM_001370298.3(FGD4):c.472T>C (p.Ser158Pro)	FGD4 (S21P +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 641291	NM_001370298.3(FGD4):c.487C>T (p.Arg163Cys)	FGD4 (R111C +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1045190	NM_001370298.3(FGD4):c.488G>T (p.Arg163Leu)	FGD4 (R111L +2 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2152396	NM_001370298.3(FGD4):c.493G>C (p.Glu165Gln)	FGD4 (E113Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 852133	NM_001370298.3(FGD4):c.499_501dup (p.Gly167_Ser168insGly)	FGD4	Duplication (inframe_indel +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1765407	NM_001370298.3(FGD4):c.500G>A (p.Gly167Asp)	FGD4 (G115D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1799517	NM_001370298.3(FGD4):c.501C>T (p.Gly167=)	FGD4	Single nucleotide variant (synonymous variant +2 more)	not provided	Gnot provided
Select item 1059013	NM_001370298.3(FGD4):c.503+3A>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1181789	NM_001370298.3(FGD4):c.503+279G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209275	NM_001370298.3(FGD4):c.504-286A>G	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263621	NM_001370298.3(FGD4):c.504-285AAAT[2]	FGD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1293429	NM_001370298.3(FGD4):c.504-181G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298138	NM_001370298.3(FGD4):c.504-145G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811985	NM_001370298.3(FGD4):c.504-20C>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +1 more	GLikely benign
Select item 1932817	NM_001370298.3(FGD4):c.504-9A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2981492	NM_001370298.3(FGD4):c.504-8T>C	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2827397	NM_001370298.3(FGD4):c.504-2A>C	FGD4	Single nucleotide variant (splice acceptor variant +1 more)	Charcot-Marie-Tooth disease type 4	GLikely pathogenic
Select item 665415	NM_001370298.3(FGD4):c.506C>T (p.Ser169Leu)	FGD4 (S117L +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1900069	NM_001370298.3(FGD4):c.510A>G (p.Leu170=)	FGD4	Single nucleotide variant (5 prime UTR variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 2000943	NM_001370298.3(FGD4):c.536A>G (p.Glu179Gly)	FGD4 (E179G +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1607099	NM_001370298.3(FGD4):c.546G>A (p.Val182=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1302624	NM_001370298.3(FGD4):c.556G>C (p.Ala186Pro)	FGD4 (A134P +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1773742	NM_001370298.3(FGD4):c.559C>T (p.Pro187Ser)	FGD4 (P187S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 939523	NM_001370298.3(FGD4):c.593C>T (p.Thr198Ile)	FGD4 (T61I +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 543372	NM_001370298.3(FGD4):c.595C>T (p.Pro199Ser)	FGD4 (P147S +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 859113	NM_001370298.3(FGD4):c.596C>T (p.Pro199Leu)	FGD4 (P62L +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 2017188	NM_001370298.3(FGD4):c.600A>G (p.Gln200=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 543396	NM_001370298.3(FGD4):c.603A>G (p.Gln201=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4 +2 more	GLikely benign
Select item 941576	NM_001370298.3(FGD4):c.607CTC[1] (p.Leu204del)	FGD4 (L152del +2 more)	Microsatellite (inframe_deletion +4 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1966167	NM_001370298.3(FGD4):c.609C>A (p.Leu203=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 946524	NM_001370298.3(FGD4):c.610C>G (p.Leu204Val)	FGD4 (L67V +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 702684	NM_001370298.3(FGD4):c.612C>T (p.Leu204=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 1980712	NM_001370298.3(FGD4):c.614C>T (p.Ser205Phe)	FGD4 (S205F +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1075631	NM_001370298.3(FGD4):c.616del (p.Gln206fs)	FGD4 (Q154fs +2 more)	Deletion (frameshift variant +3 more)	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 2146859	NM_001370298.3(FGD4):c.621C>T (p.His207=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 1143182	NM_001370298.3(FGD4):c.624G>A (p.Leu208=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 948817	NM_001370298.3(FGD4):c.638G>A (p.Gly213Glu)	FGD4 (G161E +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 2199268	NM_001370298.3(FGD4):c.643G>A (p.Asp215Asn)	FGD4 (D163N +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 414873	NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)	FGD4 (T79I +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +5 more	GLikely benign
Select item 1163348	NM_001370298.3(FGD4):c.658C>T (p.Gln220Ter)	FGD4 (Q168* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 215968	NM_001370298.3(FGD4):c.666A>T (p.Ala222=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1498847	NM_001370298.3(FGD4):c.671C>G (p.Thr224Ser)	FGD4 (T172S +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1446300	NM_001370298.3(FGD4):c.674G>T (p.Cys225Phe)	FGD4 (C173F +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 917065	NM_001370298.3(FGD4):c.674G>A (p.Cys225Tyr)	FGD4 (C173Y +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 2987337	NM_001370298.3(FGD4):c.675T>C (p.Cys225=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 972307	NM_001370298.3(FGD4):c.683A>G (p.Asn228Ser)	FGD4 (N176S +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1946054	NM_001370298.3(FGD4):c.685G>A (p.Gly229Ser)	FGD4 (G177S +2 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1547688	NM_001370298.3(FGD4):c.696A>C (p.Ala232=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4	GLikely benign
Select item 3094635	NM_001370298.3(FGD4):c.698C>G (p.Ala233Gly)	FGD4 (A181G +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 863466	NM_001370298.3(FGD4):c.708G>T (p.Gln236His)	FGD4 (Q184H +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 1012006	NM_001370298.3(FGD4):c.716G>A (p.Cys239Tyr)	FGD4 (C102Y +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4	GUncertain significance

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