137682[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60383	GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60386	GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1	CCNE2, CDH17 +109 more	Copy number loss	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 147309	GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1	CCNE2, CDH17 +98 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3328223	NM_033285.4(TP53INP1):c.233A>G (p.Asp78Gly)	NDUFAF6, TP53INP1 (D78G)	Single nucleotide variant (intron variant +1 more)	not specified	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 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 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 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 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 1292143	NM_001354514.2(NDUFAF6):c.-83-7067A>G	LOC113788297, NDUFAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512921	NM_152416.2(NDUFAF6):c.-49T>G	LOC113788297, NDUFAF6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 136607	NM_152416.2(NDUFAF6):c.-31G>T	NDUFAF6, LOC113788297	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 384560	NM_152416.2(NDUFAF6):c.-25T>C	LOC113788297, NDUFAF6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 516153	NM_152416.4(NDUFAF6):c.-5G>T	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
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 426457	NM_152416.4(NDUFAF6):c.2T>C (p.Met1Thr)	LOC113788297, NDUFAF6 (M1T)	Single nucleotide variant (5 prime UTR variant +4 more)	Inborn genetic diseases +1 more	GLikely pathogenic
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 1033149	NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly)	LOC113788297, NDUFAF6 (A3G)	Single nucleotide variant (5 prime UTR variant +3 more)	Leigh syndrome	GUncertain significance
Select item 738240	NM_152416.4(NDUFAF6):c.9C>T (p.Ala3=)	NDUFAF6, LOC113788297	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1897384	NM_152416.4(NDUFAF6):c.11C>A (p.Ser4Tyr)	LOC113788297, NDUFAF6 (S4Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
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 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 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 1901337	NM_152416.4(NDUFAF6):c.20G>C (p.Gly7Ala)	LOC113788297, NDUFAF6 (G7A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 1315671	NM_152416.4(NDUFAF6):c.20G>T (p.Gly7Val)	LOC113788297, NDUFAF6 (G7V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
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 1878918	NM_152416.4(NDUFAF6):c.22T>C (p.Ser8Pro)	LOC113788297, NDUFAF6 (S8P)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	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 1419720	NM_152416.4(NDUFAF6):c.29G>A (p.Trp10Ter)	LOC113788297, NDUFAF6 (W10*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
Select item 1416956	NM_152416.4(NDUFAF6):c.32G>A (p.Gly11Glu)	LOC113788297, NDUFAF6 (G11E)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	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 390548	NM_152416.4(NDUFAF6):c.37T>C (p.Leu13=)	LOC113788297, NDUFAF6	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GLikely benign
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 1898235	NM_152416.4(NDUFAF6):c.41G>C (p.Arg14Pro)	LOC113788297, NDUFAF6 (R14P)	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 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 1208852	NM_152416.4(NDUFAF6):c.48C>G (p.Gly16=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign/Likely 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 136608	NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +1 more	GBenign
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 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 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 681583	NM_152416.4(NDUFAF6):c.58C>T (p.Leu20=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 510881	NM_152416.4(NDUFAF6):c.63C>T (p.Cys21=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GLikely benign
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 1910515	NM_152416.4(NDUFAF6):c.66C>T (p.Cys22=)	LOC113788297, NDUFAF6	Single nucleotide variant (5 prime UTR variant +3 more)	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 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 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 1988700	NM_152416.4(NDUFAF6):c.82G>C (p.Gly28Arg)	LOC113788297, NDUFAF6 (G28R)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214210	NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)	LOC113788297, NDUFAF6 (G28A)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +3 more	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 1034316	NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly)	LOC113788297, NDUFAF6 (A31G)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 1048985	NM_152416.4(NDUFAF6):c.95G>A (p.Arg32His)	LOC113788297, NDUFAF6 (R32H)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 596994	NM_152416.4(NDUFAF6):c.97A>G (p.Met33Val)	LOC113788297, NDUFAF6 (M33V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1443113	NM_152416.4(NDUFAF6):c.104G>A (p.Arg35Gln)	LOC113788297, NDUFAF6 (R35Q)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	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 1374079	NM_152416.4(NDUFAF6):c.112G>C (p.Gly38Arg)	LOC113788297, NDUFAF6 (G38R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 559316	NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu)	LOC113788297, NDUFAF6 (P39L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 450204	NM_152416.4(NDUFAF6):c.123_124dup (p.Ser42fs)	LOC113788297, NDUFAF6 (S42fs)	Microsatellite (5 prime UTR variant +3 more)	not provided	GLikely pathogenic
Select item 1063770	NM_152416.4(NDUFAF6):c.128G>A (p.Gly43Glu)	LOC113788297, NDUFAF6 (G43E)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 214211	NM_152416.4(NDUFAF6):c.139G>A (p.Ala47Thr)	LOC113788297, NDUFAF6 (A47T)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GLikely benign
Select item 1957237	NM_152416.4(NDUFAF6):c.147_159del (p.Ser50fs)	LOC113788297, NDUFAF6 (S50fs)	Deletion (5 prime UTR variant +3 more)	not provided	GPathogenic
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 1973440	NM_152416.4(NDUFAF6):c.151G>A (p.Gly51Arg)	LOC113788297, NDUFAF6 (G51R)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1919780	NM_152416.4(NDUFAF6):c.151G>T (p.Gly51Ter)	LOC113788297, NDUFAF6 (G51*)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic
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 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

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