Related gene-specific medical variations for Gene (Select 25915) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299038	NM_199069.2(NDUFAF3):c.85C>T (p.Arg29Trp)	LOC129936730, NDUFAF3 (R29W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187468	NM_199069.2(NDUFAF3):c.44C>T (p.Pro15Leu)	LOC129936729, NDUFAF3 (P15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2674637	NM_199069.2(NDUFAF3):c.77+1G>A	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2674636	NM_199069.2(NDUFAF3):c.302G>A (p.Ser101Asn)	NDUFAF3 (S101N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic
Select item 2623428	NM_199069.2(NDUFAF3):c.50T>C (p.Leu17Pro)	LOC129936729, NDUFAF3 (L17P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2585571	NM_199069.2(NDUFAF3):c.127C>T (p.Gln43Ter)	LOC129936730, NDUFAF3 (Q43*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial complex 1 deficiency, nuclear type 18	GLikely pathogenic
Select item 2493629	NM_199069.2(NDUFAF3):c.67G>C (p.Glu23Gln)	LOC129936729, NDUFAF3 (E23Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2434086	NM_199069.2(NDUFAF3):c.517G>A (p.Gly173Arg)	NDUFAF3 (G116R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GUncertain significance
Select item 2313288	NM_199069.2(NDUFAF3):c.214G>C (p.Gly72Arg)	LOC129936731, NDUFAF3 (G15R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2250883	NM_199069.2(NDUFAF3):c.32A>G (p.Tyr11Cys)	LOC129936729, NDUFAF3 (Y11C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212944	NM_199069.2(NDUFAF3):c.92G>A (p.Gly31Glu)	LOC129936730, NDUFAF3 (G31E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2157306	NM_199069.2(NDUFAF3):c.18G>C (p.Ala6=)	LOC129936729, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2135416	NM_199069.2(NDUFAF3):c.79G>A (p.Ala27Thr)	LOC129936730, NDUFAF3 (A27T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2024476	NM_199069.2(NDUFAF3):c.232C>G (p.Pro78Ala)	LOC129936731, NDUFAF3 (P21A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956077	NM_199069.2(NDUFAF3):c.77+10G>C	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956076	NM_199069.2(NDUFAF3):c.77+10del	LOC129936729, NDUFAF3	Deletion (intron variant)	not provided	GLikely benign
Select item 1927978	NM_199069.2(NDUFAF3):c.30G>A (p.Leu10=)	LOC129936729, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1918231	NM_199069.2(NDUFAF3):c.88C>G (p.Arg30Gly)	LOC129936730, NDUFAF3 (R30G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1902775	NM_199069.2(NDUFAF3):c.105G>A (p.Ser35=)	LOC129936730, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898113	NM_199069.2(NDUFAF3):c.34C>G (p.Arg12Gly)	NDUFAF3, LOC129936729 (R12G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671360	NM_199069.2(NDUFAF3):c.204C>T (p.Phe68=)	LOC129936731, NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1374128	NM_199069.2(NDUFAF3):c.104C>T (p.Ser35Leu)	LOC129936730, NDUFAF3 (S35L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1243511	NM_199073.2(NDUFAF3):c.-134G>T	DALRD3, NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1211219	NM_199073.2(NDUFAF3):c.-164A>G	DALRD3, NDUFAF3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207415	NM_199069.2(NDUFAF3):c.74C>T (p.Pro25Leu)	LOC129936729, NDUFAF3 (P25L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1030419	NM_199069.2(NDUFAF3):c.112G>A (p.Asp38Asn)	LOC129936730, NDUFAF3 (D38N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1013475	NM_199069.2(NDUFAF3):c.29T>C (p.Leu10Ser)	NDUFAF3, LOC129936729 (L10S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 970436	NM_199069.2(NDUFAF3):c.131G>A (p.Arg44Gln)	LOC129936730, NDUFAF3 (R44Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 902656	NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile)	LOC129936729, NDUFAF3 (S9I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 900109	NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe)	LOC129936731, NDUFAF3 (L19F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900108	NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu)	LOC129936731, NDUFAF3 (M12L +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 681408	NM_199069.2(NDUFAF3):c.78-14C>G	LOC129936730, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517003	NM_199069.2(NDUFAF3):c.77+11A>C	LOC129936729, NDUFAF3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 514204	NM_199069.2(NDUFAF3):c.78-4G>A	LOC129936730, NDUFAF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508308	NM_199069.2(NDUFAF3):c.87G>T (p.Arg29=)	LOC129936730, NDUFAF3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 384581	NM_199069.2(NDUFAF3):c.210A>C (p.Ile70=)	LOC129936731, NDUFAF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 345962	NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val)	LOC129936729, NDUFAF3 (A13V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214745	NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr)	LOC129936730, NDUFAF3 (A37T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 138458	NM_199069.2(NDUFAF3):c.78-15C>G	LOC129936730, NDUFAF3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 424	NM_199069.2(NDUFAF3):c.2T>C (p.Met1Thr)	LOC129936729, NDUFAF3 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 422	NM_199069.2(NDUFAF3):c.229G>C (p.Gly77Arg)	LOC129936731, NDUFAF3 (G77R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 18	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 41