4723[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 144730	GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3	ACY3, ALDH3B2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57210	GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3	ACY3, ALDH3B2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 157206	NC_000011.10:g.67606198_67820541dup	LOC130006221, LOC130006222 +21 more	Duplication	Normal pregnancy	Gnot provided
Select item 1195099	NC_000011.10:g.67606526dup	NDUFV1, NDUFV1-DT	Duplication	not provided	GLikely benign
Select item 683144	NM_007103.3(NDUFV1):c.-320A>G	NDUFV1, NDUFV1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 880116	NM_007103.3(NDUFV1):c.-159G>T	NDUFV1	Single nucleotide variant	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 305737	NM_007103.3(NDUFV1):c.-111T>C	LOC130006217, NDUFV1	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 877316	NM_007103.3(NDUFV1):c.-74T>C	LOC130006217, NDUFV1	Single nucleotide variant	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 305738	NM_007103.4(NDUFV1):c.-66G>A	LOC130006217, NDUFV1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GBenign
Select item 877317	NM_007103.4(NDUFV1):c.-61A>G	LOC130006217, NDUFV1	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 214846	NM_007103.4(NDUFV1):c.-45T>G	LOC130006217, NDUFV1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 305739	NM_007103.4(NDUFV1):c.-34T>A	LOC130006217, NDUFV1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2504038	NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)	LOC130006217, NDUFV1	Deletion (inframe_deletion +1 more)	Leigh syndrome	GLikely pathogenic
Select item 1329776	NM_007103.4(NDUFV1):c.13C>T (p.Arg5Trp)	NDUFV1 (R5W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2233954	NM_007103.4(NDUFV1):c.14G>A (p.Arg5Gln)	NDUFV1 (R5Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2711892	NM_007103.4(NDUFV1):c.21G>A (p.Leu7=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894338	NM_007103.4(NDUFV1):c.24C>T (p.Leu8=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426832	NM_007103.4(NDUFV1):c.43C>T (p.Arg15Trp)	NDUFV1 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2813865	NM_007103.4(NDUFV1):c.48A>G (p.Val16=)	NDUFV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 280782	NM_007103.4(NDUFV1):c.53_54del (p.Val18fs)	NDUFV1 (V18fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1477556	NM_007103.4(NDUFV1):c.55C>T (p.Arg19Cys)	NDUFV1 (R19C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 424984	NM_007103.4(NDUFV1):c.56G>C (p.Arg19Pro)	NDUFV1 (R19P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781996	NM_007103.4(NDUFV1):c.60C>T (p.Phe20=)	NDUFV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2186471	NM_007103.4(NDUFV1):c.62G>C (p.Ser21Thr)	NDUFV1 (S21T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2875380	NM_007103.4(NDUFV1):c.63C>T (p.Ser21=)	NDUFV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2844903	NM_007103.4(NDUFV1):c.66C>T (p.Gly22=)	NDUFV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2712129	NM_007103.4(NDUFV1):c.69C>T (p.Asp23=)	NDUFV1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2732796	NM_007103.4(NDUFV1):c.72+13C>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138504	NM_007103.4(NDUFV1):c.72+15G>T	NDUFV1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1249771	NM_007103.4(NDUFV1):c.72+34T>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683145	NM_007103.4(NDUFV1):c.72+154G>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288802	NM_007103.4(NDUFV1):c.73-213G>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269956	NM_007103.4(NDUFV1):c.73-158dup	NDUFV1	Duplication (intron variant)	not provided	GBenign
Select item 1223048	NM_007103.4(NDUFV1):c.73-159_73-158dup	NDUFV1	Duplication (intron variant)	not provided	GBenign
Select item 1904430	NM_007103.4(NDUFV1):c.73-19T>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511825	NM_007103.4(NDUFV1):c.73-19T>G	NDUFV1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2991459	NM_007103.4(NDUFV1):c.73-16C>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846147	NM_007103.4(NDUFV1):c.73-11T>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758464	NM_007103.4(NDUFV1):c.73-1G>T	NDUFV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2989694	NM_007103.4(NDUFV1):c.75A>G (p.Thr25=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374298	NM_007103.4(NDUFV1):c.76G>A (p.Ala26Thr)	NDUFV1 (A17T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 214847	NM_007103.4(NDUFV1):c.80C>G (p.Pro27Arg)	NDUFV1 (P27R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011266	NM_007103.4(NDUFV1):c.87A>G (p.Lys29=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897409	NM_007103.4(NDUFV1):c.91T>C (p.Ser31Pro)	NDUFV1 (S31P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2881737	NM_007103.4(NDUFV1):c.99C>T (p.Gly33=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878347	NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu)	NDUFV1 (S25L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1932607	NM_007103.4(NDUFV1):c.102G>A (p.Ser34=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124260	NM_007103.4(NDUFV1):c.114A>G (p.Glu38=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214848	NM_007103.4(NDUFV1):c.116A>G (p.Asp39Gly)	NDUFV1 (D39G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2970239	NM_007103.4(NDUFV1):c.118C>T (p.Arg40Trp)	NDUFV1 (R40W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2817980	NM_007103.4(NDUFV1):c.118C>G (p.Arg40Gly)	NDUFV1 (R40G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 521516	NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln)	NDUFV1 (R40Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2863891	NM_007103.4(NDUFV1):c.120G>A (p.Arg40=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097167	NM_007103.4(NDUFV1):c.131A>G (p.Asn44Ser)	NDUFV1 (N44S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2840928	NM_007103.4(NDUFV1):c.135G>A (p.Leu45=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192031	NM_007103.4(NDUFV1):c.138C>T (p.Tyr46=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365721	NM_007103.4(NDUFV1):c.142C>T (p.Arg48Cys)	NDUFV1 (R48C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1474579	NM_007103.4(NDUFV1):c.142C>A (p.Arg48Ser)	NDUFV1 (R48S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662815	NM_007103.4(NDUFV1):c.143G>A (p.Arg48His)	NDUFV1 (R39H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214842	NM_007103.4(NDUFV1):c.150C>T (p.Asp50=)	NDUFV1	Single nucleotide variant (synonymous variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1324787	NM_007103.4(NDUFV1):c.151_152del (p.Trp51fs)	NDUFV1 (W42fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GLikely pathogenic
Select item 2247547	NM_007103.4(NDUFV1):c.153G>A (p.Trp51Ter)	NDUFV1 (W42* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 632919	NM_007103.4(NDUFV1):c.155+1G>A	NDUFV1	Single nucleotide variant (splice donor variant)	not specified	GLikely pathogenic
Select item 746769	NM_007103.4(NDUFV1):c.155+7C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833203	NM_007103.4(NDUFV1):c.155+8A>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014328	NM_007103.4(NDUFV1):c.155+8A>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380989	NM_007103.4(NDUFV1):c.155+12C>T	NDUFV1	Single nucleotide variant (intron variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1653304	NM_007103.4(NDUFV1):c.155+13C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762383	NM_007103.4(NDUFV1):c.155+15T>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761826	NM_007103.4(NDUFV1):c.155+17A>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752977	NM_007103.4(NDUFV1):c.155+20G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926823	NM_007103.4(NDUFV1):c.155+20G>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996277	NM_007103.4(NDUFV1):c.156-15C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781377	NM_007103.4(NDUFV1):c.156-12del	NDUFV1	Deletion (intron variant)	not provided	GLikely benign
Select item 1917741	NM_007103.4(NDUFV1):c.156-11A>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129065	NM_007103.4(NDUFV1):c.156-8C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961554	NM_007103.4(NDUFV1):c.156-6G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2137165	NM_007103.4(NDUFV1):c.156-2A>G	NDUFV1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1559627	NM_007103.4(NDUFV1):c.156G>T (p.Arg52Ser)	NDUFV1 (R43S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1436892	NM_007103.4(NDUFV1):c.162A>C (p.Lys54Asn)	NDUFV1 (K54N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1030191	NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr)	NDUFV1 (S47T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372715	NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro)	NDUFV1 (S56P +1 more)	Single nucleotide variant (missense variant)	NDUFV1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 14057	NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter)	NDUFV1 (R59* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 4 +2 more	GPathogenic
Select item 2845614	NM_007103.4(NDUFV1):c.177A>C (p.Arg59=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743712	NM_007103.4(NDUFV1):c.177A>T (p.Arg59=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759622	NM_007103.4(NDUFV1):c.186G>A (p.Trp62Ter)	NDUFV1 (W62* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2859146	NM_007103.4(NDUFV1):c.189C>T (p.Tyr63=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844683	NM_007103.4(NDUFV1):c.195A>G (p.Thr65=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997513	NM_007103.4(NDUFV1):c.198G>A (p.Lys66=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063984	NM_007103.4(NDUFV1):c.201dup (p.Ile68fs)	NDUFV1 (I68fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 305740	NM_007103.4(NDUFV1):c.205C>T (p.Leu69=)	NDUFV1	Single nucleotide variant (synonymous variant)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 2868678	NM_007103.4(NDUFV1):c.207G>A (p.Leu69=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840734	NM_007103.4(NDUFV1):c.207G>C (p.Leu69=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388805	NM_007103.4(NDUFV1):c.217C>T (p.Pro73Ser)	NDUFV1 (P64S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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