2110[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	See cases	GPathogenic
Select item 149528	GRCh38/hg38 4q32.1(chr4:158598730-160080941)x3	C4orf46, ETFDH +31 more	Copy number gain	See cases	GUncertain significance
Select item 974730	NG_031835.1(PPID):g.103322_138659del	LOC123493226, RXFP1 +3 more	Deletion	Megacolon	GUncertain significance
Select item 1283566	NM_001008393.4(C4orf46):c.6C>A (p.Ala2=)	C4orf46, ETFDH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1198029	NM_001008393.4(C4orf46):c.-70C>G	C4orf46, ETFDH	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1212006	NR_077234.2(C4orf46):n.26T>C	C4orf46, ETFDH	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1194633	NR_077234.2(C4orf46):n.10T>C	C4orf46, ETFDH	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 347951	NM_004453.3(ETFDH):c.-315G>A	ETFDH	Single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 347952	NM_004453.3(ETFDH):c.-239G>A	ETFDH	Single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency +1 more	GLikely benign
Select item 347953	NM_004453.3(ETFDH):c.-174A>G	ETFDH	Single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 347954	NM_004453.4(ETFDH):c.-97G>A	ETFDH	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 901348	NM_004453.4(ETFDH):c.-77C>G	ETFDH	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 3233947	NM_004453.4(ETFDH):c.-75A>G	ETFDH	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 901349	NM_004453.4(ETFDH):c.-61C>T	ETFDH	Single nucleotide variant (5 prime UTR variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 512971	NM_004453.4(ETFDH):c.-41CCT[1]	ETFDH	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 1802979	NM_004453.4(ETFDH):c.2T>G (p.Met1Arg)	ETFDH (M1R)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 12026	NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)	ETFDH (M1T)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2746368	NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)	ETFDH (M1I)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2203581	NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)	ETFDH (M1I)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1649117	NM_004453.4(ETFDH):c.6G>C (p.Leu2=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 347955	NM_004453.4(ETFDH):c.12G>A (p.Pro4=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2810878	NM_004453.4(ETFDH):c.15A>G (p.Leu5=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1623646	NM_004453.4(ETFDH):c.21G>A (p.Lys7=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 203709	NM_004453.4(ETFDH):c.22C>G (p.Leu8Val)	ETFDH (L8V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2826816	NM_004453.4(ETFDH):c.24G>T (p.Leu8=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 990927	NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)	ETFDH (S9T)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1157959	NM_004453.4(ETFDH):c.27C>T (p.Ser9=)	ETFDH	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2444725	NM_004453.4(ETFDH):c.32T>C (p.Leu11Pro)	ETFDH (L11P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 576973	NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)	ETFDH (A12P +1 more)	Single nucleotide variant (missense variant)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675134	NM_004453.4(ETFDH):c.34+1G>A	ETFDH	Single nucleotide variant (splice donor variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1934026	NM_004453.4(ETFDH):c.34+5G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1481750	NM_004453.4(ETFDH):c.34+5G>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 515745	NM_004453.4(ETFDH):c.34+7G>A	ETFDH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2914591	NM_004453.4(ETFDH):c.34+11A>G	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2962109	NM_004453.4(ETFDH):c.34+16C>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1956969	NM_004453.4(ETFDH):c.34+17G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1207294	NM_004453.4(ETFDH):c.34+57C>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193295	NM_004453.4(ETFDH):c.34+146T>A	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216288	NM_004453.4(ETFDH):c.34+266A>G	ETFDH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881219	NM_004453.4(ETFDH):c.35-20T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 645364	NC_000004.11:g.(?_159601599)_(159620302_?)dup	ETFDH	Duplication	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2180821	NM_004453.4(ETFDH):c.35-18T>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2145939	NM_004453.4(ETFDH):c.35-16C>T	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1644413	NM_004453.4(ETFDH):c.35-15G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2795431	NM_004453.4(ETFDH):c.35-11T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 647467	NC_000004.11:g.(?_159601609)_(159620292_?)dup	ETFDH	Duplication	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1569394	NM_004453.4(ETFDH):c.35-8T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1126629	NM_004453.4(ETFDH):c.35-7T>C	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1576308	NM_004453.4(ETFDH):c.35-6G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1529266	NM_004453.4(ETFDH):c.35-6G>T	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1963110	NM_004453.4(ETFDH):c.35-4G>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 459964	NM_004453.4(ETFDH):c.35-3C>A	ETFDH	Single nucleotide variant (intron variant)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 792559	NM_004453.4(ETFDH):c.36A>G (p.Ala12=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 12027	NM_004453.4(ETFDH):c.36del (p.Tyr13fs)	ETFDH (Y13fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 203710	NM_004453.4(ETFDH):c.38A>G (p.Tyr13Cys)	ETFDH (Y13C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2780565	NM_004453.4(ETFDH):c.40del (p.Gln14fs)	ETFDH (Q14fs)	Deletion (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1925573	NM_004453.4(ETFDH):c.42G>C (p.Gln14His)	ETFDH (Q14H)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1905518	NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)	ETFDH (C15S)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 1984863	NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)	ETFDH (F16I)	Single nucleotide variant (intron variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 195222	NM_004453.4(ETFDH):c.51dup (p.Ala18fs)	ETFDH (A18fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2957337	NM_004453.4(ETFDH):c.51T>C (p.His17=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2012381	NM_004453.4(ETFDH):c.54C>T (p.Ala18=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1386521	NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)	ETFDH	Deletion (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic/Likely pathogenic
Select item 990928	NM_004453.4(ETFDH):c.61A>T (p.Ile21Phe)	ETFDH (I21F)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 347956	NM_004453.4(ETFDH):c.63T>C (p.Ile21=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 1437786	NM_004453.4(ETFDH):c.71dup (p.Asn24fs)	ETFDH (N24fs)	Duplication (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2850315	NM_004453.4(ETFDH):c.78A>G (p.Leu26=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 167040	NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)	ETFDH (P27S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1108917	NM_004453.4(ETFDH):c.84A>G (p.Leu28=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 947836	NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)	ETFDH (A30T)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2998616	NM_004453.4(ETFDH):c.90T>C (p.Ala30=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 203711	NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala)	ETFDH (T31A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2675130	NM_004453.4(ETFDH):c.92delinsTA (p.Thr31fs)	ETFDH (T31fs)	Indel (frameshift variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 95075	NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)	ETFDH (T31I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1422520	NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)	ETFDH (W33*)	Single nucleotide variant (intron variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2067173	NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)	ETFDH (S34T)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2675116	NM_004453.4(ETFDH):c.104C>A (p.Ser35Ter)	ETFDH (S35*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1607930	NM_004453.4(ETFDH):c.108T>G (p.Thr36=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 2010863	NM_004453.4(ETFDH):c.114T>C (p.Thr38=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1131676	NM_004453.4(ETFDH):c.117G>A (p.Val39=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 577047	NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)	ETFDH (R41*)	Single nucleotide variant (nonsense +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GPathogenic
Select item 1568040	NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)	ETFDH (R41Q)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2159848	NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)	ETFDH (I42T)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 2165631	NM_004453.4(ETFDH):c.129T>C (p.Thr43=)	ETFDH	Single nucleotide variant (synonymous variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1438277	NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)	ETFDH (T47A)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 347957	NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)	ETFDH (I48V)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 2631586	NM_004453.4(ETFDH):c.151del (p.Arg51fs)	ETFDH (R51fs)	Deletion (frameshift variant +1 more)	ETFDH-related disorder	GLikely pathogenic
Select item 990929	NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)	ETFDH (P50S)	Single nucleotide variant (missense variant +1 more)	Multiple acyl-CoA dehydrogenase deficiency	GUncertain significance

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