ClinVar for Gene (Select 4723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188494	NM_007103.4(NDUFV1):c.464A>G (p.Tyr155Cys)	NDUFV1 (Y155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3021290	NM_007103.4(NDUFV1):c.913+17G>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020900	NM_007103.4(NDUFV1):c.576T>C (p.Asp192=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017620	NM_007103.4(NDUFV1):c.1041A>G (p.Thr347=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013576	NM_007103.4(NDUFV1):c.1341G>A (p.Glu447=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012589	NM_007103.4(NDUFV1):c.1308+7A>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012375	NM_007103.4(NDUFV1):c.1221C>T (p.Ala407=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011485	NM_007103.4(NDUFV1):c.411G>A (p.Lys137=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011266	NM_007103.4(NDUFV1):c.87A>G (p.Lys29=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009846	NM_007103.4(NDUFV1):c.1081-20A>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005923	NM_007103.4(NDUFV1):c.1218G>A (p.Pro406=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004814	NM_007103.4(NDUFV1):c.549C>A (p.Gly183=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003405	NM_007103.4(NDUFV1):c.1163-18T>C	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002000	NM_007103.4(NDUFV1):c.684C>A (p.Pro228=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001668	NM_007103.4(NDUFV1):c.511-13_511-12insAACCACACC	NDUFV1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3000815	NM_007103.4(NDUFV1):c.810C>T (p.Asn270=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000328	NM_007103.4(NDUFV1):c.1080+20C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998122	NM_007103.4(NDUFV1):c.1149C>A (p.Thr383=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997859	NM_007103.4(NDUFV1):c.633G>T (p.Ala211=)	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 2996277	NM_007103.4(NDUFV1):c.156-15C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995469	NM_007103.4(NDUFV1):c.1308+20G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995355	NM_007103.4(NDUFV1):c.1338C>T (p.Leu446=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994973	NM_007103.4(NDUFV1):c.1293C>T (p.Ala431=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993102	NM_007103.4(NDUFV1):c.326+17G>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993002	NM_007103.4(NDUFV1):c.954C>T (p.Ile318=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992614	NM_007103.4(NDUFV1):c.419_420insTCCTCACAAGCTGA (p.Glu140fs)	NDUFV1 (E140fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2991980	NM_007103.4(NDUFV1):c.1308+13C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	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 2991316	NM_007103.4(NDUFV1):c.1368G>A (p.Gln456=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990420	NM_007103.4(NDUFV1):c.1309-12dup	LOC126861242, NDUFV1	Duplication (intron variant)	not provided	GBenign
Select item 2989694	NM_007103.4(NDUFV1):c.75A>G (p.Thr25=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986535	NM_007103.4(NDUFV1):c.511-4G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986092	NM_007103.4(NDUFV1):c.1309-17C>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983299	NM_007103.4(NDUFV1):c.511-15A>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982558	NM_007103.4(NDUFV1):c.655A>T (p.Lys219Ter)	NDUFV1 (K210* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2977818	NM_007103.4(NDUFV1):c.326+11G>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976408	NM_007103.4(NDUFV1):c.1377C>T (p.Ala459=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	NDUFV1-related condition +1 more	GLikely benign
Select item 2973572	NM_007103.4(NDUFV1):c.1278T>C (p.Ala426=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972962	NM_007103.4(NDUFV1):c.1081-9G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971532	NM_007103.4(NDUFV1):c.357G>A (p.Glu119=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2969273	NM_007103.4(NDUFV1):c.913+12G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969103	NM_007103.4(NDUFV1):c.1080+16C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966858	NM_007103.4(NDUFV1):c.700+17C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962241	NM_007103.4(NDUFV1):c.914-16C>G	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 2954723	NM_007103.4(NDUFV1):c.312G>A (p.Lys104=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919174	NM_007103.4(NDUFV1):c.561T>C (p.Cys187=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918989	NM_007103.4(NDUFV1):c.978G>A (p.Leu326=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907412	NM_007103.4(NDUFV1):c.914-8_947del	NDUFV1	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 2906738	NM_007103.4(NDUFV1):c.684dup (p.Phe229fs)	NDUFV1 (F229fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2904885	NM_007103.4(NDUFV1):c.1197C>T (p.Phe399=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904175	NM_007103.4(NDUFV1):c.270C>T (p.Gly90=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900118	NM_007103.4(NDUFV1):c.289_298del (p.Leu97fs)	NDUFV1 (L88fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2900030	NM_007103.4(NDUFV1):c.960C>T (p.Gly320=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899418	NM_007103.4(NDUFV1):c.966G>A (p.Ser322=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898192	NM_007103.4(NDUFV1):c.1309-3dup	LOC126861242, NDUFV1	Duplication (intron variant)	not provided	GBenign
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 2897100	NM_007103.4(NDUFV1):c.639C>T (p.Ile213=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897082	NM_007103.4(NDUFV1):c.1101C>T (p.Ile367=)	LOC126861242, 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 2881737	NM_007103.4(NDUFV1):c.99C>T (p.Gly33=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2880276	NM_007103.4(NDUFV1):c.326+10T>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878731	NM_007103.4(NDUFV1):c.519C>T (p.Ile173=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877589	NM_007103.4(NDUFV1):c.326+15del	NDUFV1	Deletion (intron variant)	not provided	GBenign
Select item 2877435	NM_007103.4(NDUFV1):c.384G>T (p.Arg128=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876601	NM_007103.4(NDUFV1):c.1284T>A (p.Gly428=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	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 2873070	NM_007103.4(NDUFV1):c.327-19G>C	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870981	NM_007103.4(NDUFV1):c.700+8C>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868678	NM_007103.4(NDUFV1):c.207G>A (p.Leu69=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867971	NM_007103.4(NDUFV1):c.1029G>A (p.Val343=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863891	NM_007103.4(NDUFV1):c.120G>A (p.Arg40=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862785	NM_007103.4(NDUFV1):c.573T>C (p.Tyr191=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861106	NM_007103.4(NDUFV1):c.1162+23del	LOC126861242, NDUFV1	Deletion (intron variant)	not provided	GBenign
Select item 2860312	NM_007103.4(NDUFV1):c.950_951dup (p.Ile318Ter)	NDUFV1 (I318* +1 more)	Microsatellite (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 2859044	NM_007103.4(NDUFV1):c.511-9G>T	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858201	NM_007103.4(NDUFV1):c.700+11G>A	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858185	NM_007103.4(NDUFV1):c.468C>T (p.Ile156=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854275	NM_007103.4(NDUFV1):c.1081-10C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852049	NM_007103.4(NDUFV1):c.1141C>T (p.Gln381Ter)	LOC126861242, NDUFV1 (Q372* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2851947	NM_007103.4(NDUFV1):c.1081-10C>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846570	NM_007103.4(NDUFV1):c.1162+13C>G	LOC126861242, 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 2845614	NM_007103.4(NDUFV1):c.177A>C (p.Arg59=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845347	NM_007103.4(NDUFV1):c.511-14C>T	NDUFV1	Single nucleotide variant (intron variant)	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 2844683	NM_007103.4(NDUFV1):c.195A>G (p.Thr65=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844459	NM_007103.4(NDUFV1):c.924G>A (p.Thr308=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841726	NM_007103.4(NDUFV1):c.449del (p.Gly150fs)	NDUFV1 (G150fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2840935	NM_007103.4(NDUFV1):c.600G>C (p.Gly200=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840928	NM_007103.4(NDUFV1):c.135G>A (p.Leu45=)	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 2840482	NM_007103.4(NDUFV1):c.798C>A (p.Gly266=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839391	NM_007103.4(NDUFV1):c.1125G>A (p.Lys375=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838131	NM_007103.4(NDUFV1):c.453C>T (p.Ala151=)	NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836649	NM_007103.4(NDUFV1):c.701-15C>G	NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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