ClinVar for Gene (Select 137682) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384662	NM_152416.4(NDUFAF6):c.104G>T (p.Arg35Leu)	LOC113788297, NDUFAF6 (R35L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3328223	NM_033285.4(TP53INP1):c.233A>G (p.Asp78Gly)	NDUFAF6, TP53INP1 (D78G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328222	NM_033285.4(TP53INP1):c.641T>G (p.Leu214Arg)	NDUFAF6, TP53INP1 (L214R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3328221	NM_033285.4(TP53INP1):c.568C>T (p.Arg190Cys)	NDUFAF6, TP53INP1 (R190C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3299048	NM_152416.4(NDUFAF6):c.29G>C (p.Trp10Ser)	LOC113788297, NDUFAF6 (W10S)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3299047	NM_152416.4(NDUFAF6):c.194T>C (p.Leu65Pro)	LOC113788297, NDUFAF6 (L65P)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3299046	NM_152416.4(NDUFAF6):c.8C>T (p.Ala3Val)	LOC113788297, NDUFAF6 (A3V)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3252862	NM_152416.4(NDUFAF6):c.73C>T (p.Pro25Ser)	LOC113788297, NDUFAF6 (P25S)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3187660	NM_152416.4(NDUFAF6):c.770A>G (p.Asp257Gly)	NDUFAF6 (D146G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187651	NM_152416.4(NDUFAF6):c.617A>G (p.His206Arg)	NDUFAF6 (H154R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187649	NM_152416.4(NDUFAF6):c.589G>A (p.Asp197Asn)	NDUFAF6 (D105N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187623	NM_152416.4(NDUFAF6):c.506G>T (p.Arg169Leu)	NDUFAF6 (R169L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3187596	NM_152416.4(NDUFAF6):c.223T>C (p.Cys75Arg)	NDUFAF6 (C75R +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 3187580	NM_152416.4(NDUFAF6):c.182G>A (p.Cys61Tyr)	LOC113788297, NDUFAF6 (C61Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3181443	NM_033285.4(TP53INP1):c.670A>C (p.Lys224Gln)	NDUFAF6, TP53INP1 (K224Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181442	NM_033285.4(TP53INP1):c.632G>A (p.Arg211His)	NDUFAF6, TP53INP1 (R211H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181441	NM_033285.4(TP53INP1):c.629G>C (p.Arg210Pro)	NDUFAF6, TP53INP1 (R210P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181440	NM_033285.4(TP53INP1):c.608C>T (p.Pro203Leu)	NDUFAF6, TP53INP1 (P203L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181439	NM_033285.4(TP53INP1):c.569G>A (p.Arg190His)	NDUFAF6, TP53INP1 (R190H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181438	NM_033285.4(TP53INP1):c.54C>G (p.Asn18Lys)	NDUFAF6, TP53INP1 (N18K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063016	GRCh37/hg19 8q22.1(chr8:95895701-97004415)x3	CCNE2, CFAP418 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3053519	NM_152416.4(NDUFAF6):c.*6T>C	NDUFAF6	Single nucleotide variant (3 prime UTR variant +2 more)	NDUFAF6-related disorder	GLikely benign
Select item 3045807	NM_152416.4(NDUFAF6):c.21C>T (p.Gly7=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	NDUFAF6-related disorder	GLikely benign
Select item 3032010	NM_152416.4(NDUFAF6):c.327T>C (p.Ile109=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	NDUFAF6-related disorder	GLikely benign
Select item 2989000	NM_152416.4(NDUFAF6):c.485_492dup (p.Asp165fs)	NDUFAF6 (D13fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2988553	NM_152416.4(NDUFAF6):c.705T>C (p.Ile235=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985033	NM_152416.4(NDUFAF6):c.591T>A (p.Asp197Glu)	NDUFAF6 (D197E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2965444	NM_152416.4(NDUFAF6):c.715-16A>G	NDUFAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880136	NM_152416.4(NDUFAF6):c.12C>T (p.Ser4=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2821054	NM_152416.4(NDUFAF6):c.619A>G (p.Ile207Val)	NDUFAF6 (I115V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790061	NM_152416.4(NDUFAF6):c.808C>T (p.Leu270=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2772979	NM_152416.4(NDUFAF6):c.817-15C>T	NDUFAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2754760	NM_152416.4(NDUFAF6):c.505C>G (p.Arg169Gly)	NDUFAF6 (R169G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690650	NM_152416.4(NDUFAF6):c.187G>T (p.Glu63Ter)	LOC113788297, NDUFAF6 (E63*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684548	GRCh37/hg19 8q22.1(chr8:94622851-96626603)x3	CCNE2, CDH17 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2664869	NM_152416.4(NDUFAF6):c.239C>T (p.Pro80Leu)	NDUFAF6 (P28L +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GUncertain significance
Select item 2658699	NM_152416.4(NDUFAF6):c.891T>C (p.Phe297=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2622651	NM_152416.4(NDUFAF6):c.148A>C (p.Ser50Arg)	LOC113788297, NDUFAF6 (S50R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2612727	NM_033285.4(TP53INP1):c.71A>G (p.Asn24Ser)	NDUFAF6, TP53INP1 (N24S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2610975	NM_033285.4(TP53INP1):c.304C>T (p.Pro102Ser)	NDUFAF6, TP53INP1 (P102S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580551	NM_152416.4(NDUFAF6):c.110C>T (p.Pro37Leu)	LOC113788297, NDUFAF6 (P37L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2575720	NM_152416.4(NDUFAF6):c.1A>C (p.Met1Leu)	LOC113788297, NDUFAF6 (M1L)	Single nucleotide variant (5 prime UTR variant +4 more)	not provided	GPathogenic
Select item 2545905	NM_152416.4(NDUFAF6):c.898A>C (p.Lys300Gln)	NDUFAF6 (K189Q +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2545749	NM_152416.4(NDUFAF6):c.35C>A (p.Pro12Gln)	LOC113788297, NDUFAF6 (P12Q)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2541289	NM_152416.4(NDUFAF6):c.56G>A (p.Gly19Asp)	LOC113788297, NDUFAF6 (G19D)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2535424	NM_033285.4(TP53INP1):c.224G>T (p.Cys75Phe)	NDUFAF6, TP53INP1 (C75F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522890	NM_152416.4(NDUFAF6):c.550T>C (p.Ser184Pro)	NDUFAF6 (S92P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510010	NM_033285.4(TP53INP1):c.304C>G (p.Pro102Ala)	NDUFAF6, TP53INP1 (P102A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507351	NM_152416.4(NDUFAF6):c.694C>A (p.Pro232Thr)	NDUFAF6 (P121T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 2504930	NM_152416.4(NDUFAF6):c.962C>G (p.Pro321Arg)	NDUFAF6 (P169R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2502595	NM_152416.4(NDUFAF6):c.466G>A (p.Val156Ile)	NDUFAF6 (V104I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2463932	NM_033285.4(TP53INP1):c.631C>T (p.Arg211Cys)	NDUFAF6, TP53INP1 (R211C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2444196	NM_152416.4(NDUFAF6):c.655G>C (p.Ala219Pro)	NDUFAF6 (A108P +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GUncertain significance
Select item 2427378	NC_000008.10:g.(?_96037237)_(96070165_?)dup	NDUFAF6	Duplication	not provided	GUncertain significance
Select item 2427377	NC_000008.10:g.(?_96057753)_(96064478_?)del	NDUFAF6	Deletion	not provided	GPathogenic
Select item 2427376	NC_000008.10:g.(?_96070017)_(96070165_?)del	NDUFAF6	Deletion	not provided	GUncertain significance
Select item 2423451	NC_000008.10:g.(?_96037237)_(97345794_?)dup	CFAP418, GDF6 +5 more	Duplication	Klippel-Feil syndrome 1, autosomal dominant +3 more	GUncertain significance
Select item 2414205	NM_152416.4(NDUFAF6):c.319A>C (p.Lys107Gln)	NDUFAF6 (K107Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2413147	NM_152416.4(NDUFAF6):c.907C>T (p.Arg303Ter)	NDUFAF6 (R151* +4 more)	Single nucleotide variant (nonsense +2 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GUncertain significance
Select item 2413146	NM_152416.4(NDUFAF6):c.634G>A (p.Gly212Ser)	NDUFAF6 (G101S +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GUncertain significance
Select item 2390195	NM_033285.4(TP53INP1):c.295A>G (p.Thr99Ala)	NDUFAF6, TP53INP1 (T99A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386584	NM_152416.4(NDUFAF6):c.202C>T (p.Arg68Trp)	NDUFAF6 (R68W +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2369095	NM_033285.4(TP53INP1):c.209C>T (p.Pro70Leu)	NDUFAF6, TP53INP1 (P70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354828	NM_152416.4(NDUFAF6):c.65G>A (p.Cys22Tyr)	LOC113788297, NDUFAF6 (C22Y)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2323306	NM_152416.4(NDUFAF6):c.53C>T (p.Pro18Leu)	LOC113788297, NDUFAF6 (P18L)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2317294	NM_033285.4(TP53INP1):c.713A>G (p.Tyr238Cys)	NDUFAF6, TP53INP1 (Y238C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2314874	NM_152416.4(NDUFAF6):c.172G>A (p.Asp58Asn)	LOC113788297, NDUFAF6 (D58N)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2311866	NM_033285.4(TP53INP1):c.175C>T (p.Pro59Ser)	NDUFAF6, TP53INP1 (P59S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300294	NM_033285.4(TP53INP1):c.503A>G (p.His168Arg)	NDUFAF6, TP53INP1 (H168R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2291717	NM_033285.4(TP53INP1):c.395A>G (p.Tyr132Cys)	NDUFAF6, TP53INP1 (Y132C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274930	NM_152416.4(NDUFAF6):c.212A>C (p.Glu71Ala)	NDUFAF6 (E19A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2261579	NM_033285.4(TP53INP1):c.314C>T (p.Thr105Ile)	NDUFAF6, TP53INP1 (T105I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258206	NM_152416.4(NDUFAF6):c.778T>C (p.Tyr260His)	NDUFAF6 (Y208H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246215	NM_152416.4(NDUFAF6):c.52C>T (p.Pro18Ser)	LOC113788297, NDUFAF6 (P18S)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2241310	NM_033285.4(TP53INP1):c.624C>G (p.Ser208Arg)	NDUFAF6, TP53INP1 (S208R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2229822	NM_033285.4(TP53INP1):c.707G>A (p.Arg236His)	NDUFAF6, TP53INP1 (R236H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2198095	NM_152416.4(NDUFAF6):c.43C>T (p.Leu15Phe)	LOC113788297, NDUFAF6 (L15F)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2187980	NM_152416.4(NDUFAF6):c.816+7C>T	NDUFAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170068	NM_152416.4(NDUFAF6):c.51C>T (p.Ile17=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2140444	NM_152416.4(NDUFAF6):c.18C>A (p.His6Gln)	LOC113788297, NDUFAF6 (H6Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2133218	NM_152416.4(NDUFAF6):c.440_441insTT (p.Leu147_Thr148insTer)	NDUFAF6	Insertion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2126977	NM_152416.4(NDUFAF6):c.41G>T (p.Arg14Leu)	LOC113788297, NDUFAF6 (R14L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2092952	NM_152416.4(NDUFAF6):c.478-15T>C	NDUFAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2081868	NM_152416.4(NDUFAF6):c.67C>T (p.Arg23Cys)	LOC113788297, NDUFAF6 (R23C)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2080320	NM_152416.4(NDUFAF6):c.231G>C (p.Leu77=)	NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2077211	NM_152416.4(NDUFAF6):c.872C>T (p.Thr291Met)	NDUFAF6 (T199M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2070157	NM_152416.4(NDUFAF6):c.513C>G (p.Ile171Met)	NDUFAF6 (I171M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2040258	NM_152416.4(NDUFAF6):c.553C>T (p.Leu185Phe)	NDUFAF6 (L133F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2022888	NM_152416.4(NDUFAF6):c.298-19T>G	NDUFAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019679	NM_152416.4(NDUFAF6):c.75G>A (p.Pro25=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2015601	NM_152416.4(NDUFAF6):c.576A>G (p.Ile192Met)	NDUFAF6 (I192M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2012766	NM_152416.4(NDUFAF6):c.312C>T (p.Val104=)	NDUFAF6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2012297	NM_152416.4(NDUFAF6):c.91G>C (p.Ala31Pro)	LOC113788297, NDUFAF6 (A31P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2007183	NM_152416.4(NDUFAF6):c.42G>A (p.Arg14=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2000725	NM_152416.4(NDUFAF6):c.15G>A (p.Ala5=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1997258	NM_152416.4(NDUFAF6):c.237C>A (p.Leu79=)	NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign

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