ClinVar for Gene (Select 4694) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 209

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069029	NM_004541.4(NDUFA1):c.139C>G (p.Leu47Val)	NDUFA1 (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062532	GRCh37/hg19 Xq24(chrX:118982260-119101845)	AKAP14, NDUFA1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3033518	NM_004541.4(NDUFA1):c.16C>T (p.Leu6Phe)	LOC130068621, NDUFA1 (L6F)	Single nucleotide variant (missense variant)	NDUFA1-related disorder	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2912795	NM_004541.4(NDUFA1):c.176G>A (p.Arg59His)	NDUFA1 (R59H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685761	GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	AGTR2, AKAP14 +66 more	Copy number gain	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2661308	NM_004541.4(NDUFA1):c.84G>A (p.Arg28=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580100	NM_004541.4(NDUFA1):c.158G>A (p.Arg53His)	NDUFA1 (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506730	NM_004541.4(NDUFA1):c.77T>C (p.Ile26Thr)	LOC130068621, NDUFA1 (I26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2427183	NC_000023.10:g.(?_118708675)_(119761021_?)dup	ATP1B4, AKAP14 +18 more	Duplication	Syndromic X-linked intellectual disability 14	GUncertain significance
Select item 2425677	NC_000023.10:g.(?_118968841)_(119010497_?)del	NDUFA1, RNF113A +1 more	Deletion	not provided	GUncertain significance
Select item 2425675	NC_000023.10:g.(?_117629935)_(119761021_?)dup	AKAP14, ATP1B4 +27 more	Duplication	not provided	GUncertain significance
Select item 2424705	NC_000023.10:g.(?_117629935)_(119761021_?)del	AKAP14, ATP1B4 +27 more	Deletion	X-linked intellectual disability Cabezas type	GPathogenic
Select item 2184789	NM_004541.4(NDUFA1):c.102+5G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182710	NM_004541.4(NDUFA1):c.39C>T (p.Gly13=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2078853	NM_004541.4(NDUFA1):c.102+7C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007196	NM_004541.4(NDUFA1):c.35T>C (p.Met12Thr)	LOC130068621, NDUFA1 (M12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988194	NM_004541.4(NDUFA1):c.102+13C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1945956	NM_004541.4(NDUFA1):c.102+19G>A	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1808899	GRCh37/hg19 Xq24(chrX:118927963-119106405)x3	AKAP14, NDUFA1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1808797	GRCh37/hg19 Xq24(chrX:118718147-119128855)x3	AKAP14, NDUFA1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1741788	NM_004541.4(NDUFA1):c.45C>T (p.Cys15=)	LOC130068621, NDUFA1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1695562	NM_004541.4(NDUFA1):c.153T>G (p.Asp51Glu)	NDUFA1 (D51E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1631642	NM_004541.4(NDUFA1):c.103-7T>C	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616323	NM_004541.4(NDUFA1):c.180C>T (p.Tyr60=)	NDUFA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1312864	NM_004541.4(NDUFA1):c.70_73del (p.Ala24fs)	LOC130068621, NDUFA1 (A24fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1310377	NM_004541.4(NDUFA1):c.169G>A (p.Val57Ile)	NDUFA1 (V57I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1289600	NM_004541.4(NDUFA1):c.103-133del	NDUFA1	Deletion (intron variant)	not provided	GBenign
Select item 1262798	NM_004541.4(NDUFA1):c.192+165del	NDUFA1	Deletion (intron variant)	not provided	GBenign
Select item 1259573	NM_004541.4(NDUFA1):c.103-243A>T	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248855	NM_004541.4(NDUFA1):c.103-38T>G	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240839	NM_004541.4(NDUFA1):c.193-294dup	NDUFA1	Duplication (intron variant)	not provided	GBenign
Select item 1239686	NC_000023.11:g.119871742C>G	LOC130068621, NDUFA1	Single nucleotide variant	not provided	GBenign
Select item 1237407	NM_004541.4(NDUFA1):c.103-276A>G	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229614	NM_006978.3(RNF113A):c.-11A>G	LOC130068621, NDUFA1 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1220671	NM_004541.4(NDUFA1):c.193-50C>A	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218732	NM_004541.4(NDUFA1):c.103-225del	NDUFA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1218563	NM_004541.4(NDUFA1):c.103-235del	NDUFA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1211550	NM_004541.4(NDUFA1):c.103-244dup	NDUFA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1179522	NM_004541.4(NDUFA1):c.103-235dup	NDUFA1	Duplication (intron variant)	not provided	GBenign
Select item 1178983	NM_004541.4(NDUFA1):c.103-244T>A	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 981164	NM_004541.4(NDUFA1):c.194G>T (p.Gly65Val)	NDUFA1 (G65V)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 12	GUncertain significance
Select item 980319	GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	C1GALT1C1, CT47A1 +69 more	Copy number gain	not provided	GPathogenic
Select item 980318	GRCh37/hg19 Xq24(chrX:118913756-119311583)x2	AKAP14, RNF113A +7 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 816382	GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	ACTRT1, AIFM1 +69 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 673198	NM_004541.4(NDUFA1):c.103-224T>C	NDUFA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564890	GRCh37/hg19 Xq24(chrX:118749182-119039684)x3	SOWAHD, UPF3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 512111	NM_004541.4(NDUFA1):c.-44C>G	LOC130068621, NDUFA1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511289	NM_004541.4(NDUFA1):c.102+17C>T	LOC130068621, NDUFA1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443630	GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	LRCH2, LUZP4 +277 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	RBMX2, RBMXL3 +509 more	Copy number gain	See cases	GPathogenic
Select item 442945	GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	See cases	GPathogenic
Select item 442821	GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	ACSL4, ACTRT1 +303 more	Copy number gain	See cases	GUncertain significance
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442712	GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	ABCD1, ACSL4 +384 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	LHFPL1, LONRF3 +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	MECP2, MED12 +523 more	Copy number gain	See cases	GPathogenic
Select item 442422	GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	ATP11C, ATP1B4 +393 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	ABCB7, ABCD1 +505 more	Copy number gain	See cases	GPathogenic
Select item 442262	GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	ABCD1, ACTRT1 +266 more	Copy number loss	See cases	GPathogenic
Select item 442001	GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	ABCD1, ACSL4 +406 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	FOXO4, FOXP3 +819 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 3