ClinVar for MedGen (Select 1648418) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1905568	NM_152416.4(NDUFAF6):c.967del (p.Tyr323fs)	NDUFAF6 (Y231fs +4 more)	Deletion (frameshift variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 17 +1 more	GUncertain significance
Select item 1333393	NM_152416.4(NDUFAF6):c.266C>T (p.Ala89Val)	NDUFAF6 (A37V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GUncertain significance
Select item 1292552	NM_152416.4(NDUFAF6):c.*16T>C	NDUFAF6	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 1064697	NM_152416.4(NDUFAF6):c.485del (p.Asn162fs)	NDUFAF6 (N10fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1064539	NM_152416.4(NDUFAF6):c.420+2_420+3insTA	NDUFAF6	Insertion (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 1029199	NM_152416.4(NDUFAF6):c.420+1_420+2dup	NDUFAF6	Duplication (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 17	GLikely pathogenic
Select item 972921	NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter)	NDUFAF6 (R2* +3 more)	Single nucleotide variant (nonsense +2 more)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 931255	NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln)	NDUFAF6 (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 929496	NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs)	NDUFAF6 (Y135fs +4 more)	Deletion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 929495	NM_152416.4(NDUFAF6):c.420+784C>T	NDUFAF6	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 559318	NM_152416.4(NDUFAF6):c.420+15dup	NDUFAF6	Duplication (intron variant)	not provided +2 more	GBenign
Select item 517080	NM_152416.4(NDUFAF6):c.421-13_421-12del	NDUFAF6	Microsatellite (intron variant)	not provided +2 more	GBenign
Select item 372259	NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly)	NDUFAF6 (R274G +4 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 372258	NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val)	NDUFAF6 (D69V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 372256	NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro)	NDUFAF6 (S76P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 372255	NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp)	NDUFAF6 (H269D +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic
Select item 372254	NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	NDUFAF6 (A178P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 284262	NM_152416.4(NDUFAF6):c.715-3C>A	NDUFAF6	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 214215	NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs)	NDUFAF6 (E82fs +1 more)	Microsatellite (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17 +1 more	GConflicting classifications of pathogenicity
Select item 214212	NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr)	NDUFAF6 (I124T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214210	NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala)	LOC113788297, NDUFAF6 (G28A)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases +4 more	GLikely benign
Select item 136605	NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)	NDUFAF6 (V280I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 136604	NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=)	NDUFAF6	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 547	NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg)	NDUFAF6 (Q99R +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Mitochondrial complex 1 deficiency, nuclear type 17	GPathogenic

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Items: 28