"GeneDx"[submitter] AND "FGD4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Charcot-Marie-Tooth disease type 4H +1 more	GConflicting classifications of pathogenicity
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 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 246146	NM_001370298.3(FGD4):c.461C>G (p.Pro154Arg)	FGD4 (P17R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	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 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 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 +4 more	GLikely benign
Select item 215968	NM_001370298.3(FGD4):c.666A>T (p.Ala222=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 242314	NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)	FGD4 (L110P +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1172838	NM_001370298.3(FGD4):c.789C>G (p.His263Gln)	FGD4 (H126Q +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 245857	NM_001370298.3(FGD4):c.792A>G (p.Ile264Met)	FGD4 (I127M +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +3 more	GUncertain significance
Select item 308287	NM_001370298.3(FGD4):c.846C>T (p.Asp282=)	FGD4	Single nucleotide variant (synonymous variant +3 more)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 197374	NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu)	FGD4 (D145E +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease +4 more	GBenign
Select item 245601	NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)	FGD4 (G160D +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +4 more	GConflicting classifications of pathogenicity
Select item 245808	NM_001370298.3(FGD4):c.895G>C (p.Gly299Arg)	FGD4 (G162R +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1052807	NM_001370298.3(FGD4):c.949G>A (p.Glu317Lys)	FGD4 (E180K +3 more)	Single nucleotide variant (missense variant +3 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 245858	NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln)	FGD4 (L190Q +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 1293249	NM_001370298.3(FGD4):c.1011+89G>T	FGD4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1192056	NM_001370298.3(FGD4):c.1011+319T>A	FGD4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1241776	NM_001370298.3(FGD4):c.1012-262G>T	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186008	NM_001370298.3(FGD4):c.1012-243G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679393	NM_001370298.3(FGD4):c.1012-154T>G	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213660	NM_001370298.3(FGD4):c.1012-72G>C	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244746	NM_001370298.3(FGD4):c.1012-67G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254846	NM_001370298.3(FGD4):c.1101+44A>G	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238685	NM_001370298.3(FGD4):c.1101+180A>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192904	NM_001370298.3(FGD4):c.1101+231G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 849450	NM_001370298.3(FGD4):c.1142C>T (p.Ser381Leu)	FGD4 (S329L +4 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4 +2 more	GUncertain significance
Select item 308289	NM_001370298.3(FGD4):c.1143G>A (p.Ser381=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 224958	NM_001370298.3(FGD4):c.1247+10G>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +3 more	GBenign
Select item 1287751	NM_001370298.3(FGD4):c.1247+305C>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219411	NM_001370298.3(FGD4):c.1247+320G>C	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290945	NM_001370298.3(FGD4):c.1248-177G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670478	NM_001370298.3(FGD4):c.1248-149T>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670479	NM_001370298.3(FGD4):c.1248-37T>A	FGD4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 418192	NM_001370298.3(FGD4):c.1248-16dup	FGD4	Duplication (intron variant)	Charcot-Marie-Tooth disease +1 more	GLikely benign
Select item 476946	NM_001370298.3(FGD4):c.1296C>T (p.Phe432=)	FGD4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 430243	NM_001370298.3(FGD4):c.1366C>T (p.Arg456Cys)	FGD4 (R319C +5 more)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4 +1 more	GUncertain significance
Select item 308292	NM_001370298.3(FGD4):c.1404+8G>A	FGD4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 509005	NM_001370298.3(FGD4):c.1404+10C>T	FGD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 670509	NM_001370298.3(FGD4):c.1404+149T>C	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 308294	NM_001370298.3(FGD4):c.1470C>T (p.Pro490=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4H +2 more	GBenign
Select item 680165	NM_001370298.3(FGD4):c.1544-236T>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192989	NM_001370298.3(FGD4):c.1544-207G>T	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296065	NM_001370298.3(FGD4):c.1544-152T>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680166	NM_001370298.3(FGD4):c.1544-135G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290956	NM_001370298.3(FGD4):c.1544-42G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388346	NM_001370298.3(FGD4):c.1602+13C>T	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +1 more	GLikely benign
Select item 429458	NM_001370298.3(FGD4):c.1614G>C (p.Lys538Asn)	FGD4 (K401N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 245919	NM_001370298.3(FGD4):c.1689A>C (p.Glu563Asp)	FGD4 (E426D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708805	NM_001370298.3(FGD4):c.1715G>A (p.Arg572Gln)	FGD4 (R187Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137368	NM_001370298.3(FGD4):c.1716G>A (p.Arg572=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 279806	NM_001370298.3(FGD4):c.1740C>A (p.Tyr580Ter)	FGD4 (Y443* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 680167	NM_001370298.3(FGD4):c.1749+200A>C	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296063	NM_001370298.3(FGD4):c.1749+206A>T	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185736	NM_001370298.3(FGD4):c.1750-158G>T	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290946	NM_001370298.3(FGD4):c.1750-142C>T	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236622	NM_001370298.3(FGD4):c.1750-123T>C	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 308297	NM_001370298.3(FGD4):c.1750-12C>T	FGD4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 245800	NM_001370298.3(FGD4):c.1759A>G (p.Met587Val)	FGD4 (M450V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 188187	NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)	FGD4 (P456T +6 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4H +5 more	GConflicting classifications of pathogenicity
Select item 3373399	NM_001370298.3(FGD4):c.1802A>G (p.Lys601Arg)	FGD4 (K120R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265144	NM_001370298.3(FGD4):c.1808_1809del (p.Thr603fs)	FGD4 (T218fs +6 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1300894	NM_001370298.3(FGD4):c.1922+141A>T	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247961	NM_001370298.3(FGD4):c.1922+202A>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293423	NM_001370298.3(FGD4):c.1922+215C>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187368	NM_001370298.3(FGD4):c.1922+249A>C	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220397	NM_001370298.3(FGD4):c.1923-321T>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183662	NM_001370298.3(FGD4):c.1923-163G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516577	NM_001370298.3(FGD4):c.1923-7A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4 +2 more	GConflicting classifications of pathogenicity
Select item 308298	NM_001370298.3(FGD4):c.1926T>C (p.Ser642=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4H +4 more	GBenign
Select item 137369	NM_001370298.3(FGD4):c.1929G>A (p.Ala643=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4 +4 more	GBenign
Select item 1296247	NM_001370298.3(FGD4):c.1953+41dup	FGD4	Duplication (intron variant)	not provided	GBenign
Select item 1183342	NM_001370298.3(FGD4):c.1953+40_1953+41dup	FGD4	Duplication (intron variant)	not provided	GBenign
Select item 1290958	NM_001370298.3(FGD4):c.1954-144G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290957	NM_001370298.3(FGD4):c.1954-21T>G	FGD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 224946	NM_001370298.3(FGD4):c.1954-8T>C	FGD4	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 194280	NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)	FGD4	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4H +5 more	GBenign/Likely benign
Select item 235447	NM_001370298.3(FGD4):c.1973A>G (p.Asp658Gly)	FGD4 (D521G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1262679	NM_001370298.3(FGD4):c.2046+37A>G	FGD4	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4H +1 more	GBenign
Select item 1223878	NM_001370298.3(FGD4):c.2046+48G>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257385	NM_001370298.3(FGD4):c.2046+221dup	FGD4	Duplication (intron variant)	not provided	GBenign
Select item 1237689	NM_001370298.3(FGD4):c.2046+221del	FGD4	Deletion (intron variant)	not provided	GBenign
Select item 1216293	NM_001370298.3(FGD4):c.2046+205T>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293174	NM_001370298.3(FGD4):c.2046+221_2046+222insTA	FGD4	Insertion (intron variant)	not provided	GBenign
Select item 672261	NM_001370298.3(FGD4):c.2046+221T>A	FGD4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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