NDUFAF7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 57240	GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3	ATL2, CDC42EP3 +66 more	Copy number gain	See cases	GUncertain significance
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 1316411	NC_000002.12:g.37231511C>G	CEBPZ, LOC126806192 +1 more (E19D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1291456	NC_000002.12:g.37231525G>A	CEBPZ, LOC126806192 +1 more (P15S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1262599	NC_000002.12:g.37231568G>A	CEBPZ, LOC126806192 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241731	NM_144736.5(NDUFAF7):c.-37_-36delinsC	LOC126806192, NDUFAF7	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 214756	NM_144736.5(NDUFAF7):c.-37del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 418379	NM_144736.5(NDUFAF7):c.-36del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 138466	NM_144736.5(NDUFAF7):c.-36G>C	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 681600	NM_144736.5(NDUFAF7):c.-11C>T	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1587336	NM_144736.5(NDUFAF7):c.9A>G (p.Val3=)	LOC126806192, NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 214757	NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr)	LOC126806192, NDUFAF7 (S7T)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 214761	NM_144736.5(NDUFAF7):c.23G>A (p.Gly8Asp)	LOC126806192, NDUFAF7 (G8D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 138467	NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)	LOC126806192, NDUFAF7 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1268049	NM_144736.5(NDUFAF7):c.56-66C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673729	NM_144736.5(NDUFAF7):c.56-41C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2985187	NM_144736.5(NDUFAF7):c.56C>T (p.Ala19Val)	LOC126806192, NDUFAF7 (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915835	NM_144736.5(NDUFAF7):c.67A>G (p.Ile23Val)	LOC126806192, NDUFAF7 (I23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886365	NM_144736.5(NDUFAF7):c.77G>T (p.Gly26Val)	LOC126806192, NDUFAF7 (G26V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503927	NM_144736.5(NDUFAF7):c.96_100del (p.Asn33fs)	NDUFAF7 (N33fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 138462	NM_144736.5(NDUFAF7):c.115C>G (p.Pro39Ala)	NDUFAF7 (P39A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2467128	NM_144736.5(NDUFAF7):c.134G>A (p.Arg45Gln)	NDUFAF7 (R45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543499	NM_144736.5(NDUFAF7):c.139C>T (p.Leu47Phe)	NDUFAF7 (L47F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326384	NM_144736.5(NDUFAF7):c.142A>G (p.Met48Val)	NDUFAF7 (M48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2070184	NM_144736.5(NDUFAF7):c.187A>G (p.Met63Val)	NDUFAF7 (M63V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1524866	NM_144736.5(NDUFAF7):c.195G>C (p.Glu65Asp)	NDUFAF7 (E65D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026954	NM_144736.5(NDUFAF7):c.215A>C (p.Lys72Thr)	NDUFAF7 (K72T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 508306	NM_144736.5(NDUFAF7):c.216+4T>C	NDUFAF7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387076	NM_144736.5(NDUFAF7):c.216+4T>G	NDUFAF7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 682730	NM_144736.5(NDUFAF7):c.216+261G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317584	NM_144736.5(NDUFAF7):c.216+277A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316562	NM_144736.5(NDUFAF7):c.217-163C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2650836	NM_144736.5(NDUFAF7):c.222T>C (p.Tyr74=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1317621	NM_144736.5(NDUFAF7):c.297+133G>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317945	NM_144736.5(NDUFAF7):c.298-205A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317552	NM_144736.5(NDUFAF7):c.298-147A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 509204	NM_144736.5(NDUFAF7):c.298-23_298-20del	NDUFAF7	Deletion (intron variant)	not specified	GLikely benign
Select item 1290667	NM_144736.5(NDUFAF7):c.298-13dup	NDUFAF7	Duplication (intron variant)	not provided	GBenign
Select item 1317799	NM_144736.5(NDUFAF7):c.298-22T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514801	NM_144736.5(NDUFAF7):c.298-16T>A	NDUFAF7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1940947	NM_144736.5(NDUFAF7):c.298-13T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671284	NM_144736.5(NDUFAF7):c.298-10dup	NDUFAF7	Duplication (intron variant)	not provided	GLikely benign
Select item 389732	NM_144736.5(NDUFAF7):c.324A>G (p.Glu108=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1920003	NM_144736.5(NDUFAF7):c.327G>A (p.Trp109Ter)	NDUFAF7 (W109* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2990706	NM_144736.5(NDUFAF7):c.345C>T (p.Ser115=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2697821	NM_144736.5(NDUFAF7):c.368T>C (p.Leu123Pro)	NDUFAF7 (L96P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 507877	NM_144736.5(NDUFAF7):c.387C>A (p.Thr129=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 138468	NM_144736.5(NDUFAF7):c.408+16A>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1320582	NM_144736.5(NDUFAF7):c.408+45T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676279	NM_144736.5(NDUFAF7):c.408+127T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229127	NM_144736.5(NDUFAF7):c.408+153_408+156del	NDUFAF7	Microsatellite (intron variant)	not provided	GBenign
Select item 682731	NM_144736.5(NDUFAF7):c.408+299A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221280	NM_144736.5(NDUFAF7):c.408+334G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318296	NM_144736.5(NDUFAF7):c.409-273T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671097	NM_144736.5(NDUFAF7):c.409-273T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682732	NM_144736.5(NDUFAF7):c.409-157G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1908581	NM_144736.5(NDUFAF7):c.409-17C>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897457	NM_144736.5(NDUFAF7):c.409-13T>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026955	NM_144736.5(NDUFAF7):c.418C>G (p.Gln140Glu)	NDUFAF7 (Q113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927096	NM_144736.5(NDUFAF7):c.468G>A (p.Glu156=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 138463	NM_144736.5(NDUFAF7):c.525G>A (p.Pro175=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 381289	NM_144736.5(NDUFAF7):c.622+8C>G	NDUFAF7	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 673220	NM_144736.5(NDUFAF7):c.622+288G>A	NDUFAF7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 418380	NM_144736.5(NDUFAF7):c.644A>G (p.His215Arg)	NDUFAF7 (H215R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 378247	NM_144736.5(NDUFAF7):c.678T>C (p.Phe226=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 214753	NM_144736.5(NDUFAF7):c.681+12_681+13del	NDUFAF7	Deletion (intron variant)	not specified	GBenign
Select item 214754	NM_144736.5(NDUFAF7):c.681+14A>T	NDUFAF7	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1290174	NM_144736.5(NDUFAF7):c.682-340T>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177759	NM_144736.5(NDUFAF7):c.682-250C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318298	NM_144736.5(NDUFAF7):c.682-183T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507689	NM_144736.5(NDUFAF7):c.682-12T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866266	NM_144736.5(NDUFAF7):c.701G>A (p.Arg234Gln)	NDUFAF7 (R163Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214755	NM_144736.5(NDUFAF7):c.717C>T (p.Asp239=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3299049	NM_144736.5(NDUFAF7):c.745A>G (p.Arg249Gly)	NDUFAF7 (R151G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 138464	NM_144736.5(NDUFAF7):c.790C>A (p.Gln264Lys)	NDUFAF7 (Q166K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1317709	NM_144736.5(NDUFAF7):c.793-44T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993337	NM_144736.5(NDUFAF7):c.793-18C>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959436	NM_144736.5(NDUFAF7):c.793-17_793-4del	NDUFAF7	Deletion (intron variant)	not provided	GLikely benign
Select item 2900804	NM_144736.5(NDUFAF7):c.793-5A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072397	NM_144736.5(NDUFAF7):c.798C>T (p.Asp266=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808730	NM_144736.5(NDUFAF7):c.799G>A (p.Glu267Lys)	NDUFAF7 (E267K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2267416	NM_144736.5(NDUFAF7):c.812A>T (p.His271Leu)	NDUFAF7 (H173L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 214759	NM_144736.5(NDUFAF7):c.813T>G (p.His271Gln)	NDUFAF7 (H173Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214760	NM_144736.5(NDUFAF7):c.815T>C (p.Val272Ala)	NDUFAF7 (V272A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 385676	NM_144736.5(NDUFAF7):c.846C>T (p.Ile282=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2719333	NM_144736.5(NDUFAF7):c.862C>T (p.Arg288Cys)	NDUFAF7 (R288C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3187698	NM_144736.5(NDUFAF7):c.866T>C (p.Ile289Thr)	NDUFAF7 (I218T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280739	NM_144736.5(NDUFAF7):c.875C>G (p.Thr292Ser)	NDUFAF7 (T221S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1365504	NM_144736.5(NDUFAF7):c.936+3A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 682735	NM_144736.5(NDUFAF7):c.936+247T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682736	NM_144736.5(NDUFAF7):c.936+317A>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316709	NM_144736.5(NDUFAF7):c.937-258C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286652	NM_144736.5(NDUFAF7):c.937-213G>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 378248	NM_144736.5(NDUFAF7):c.937-19T>G	NDUFAF7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1991440	NM_144736.5(NDUFAF7):c.937-13_937-10del	NDUFAF7	Deletion (intron variant)	not provided	GUncertain significance
Select item 2196161	NM_144736.5(NDUFAF7):c.945C>T (p.Cys315=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3187702	NM_144736.5(NDUFAF7):c.946G>A (p.Asp316Asn)	NDUFAF7 (D316N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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