Related gene-specific medical variations for Gene (Select 126328) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299019	NM_175614.5(NDUFA11):c.82A>T (p.Ile28Phe)	LOC112552175, NDUFA11 (I28F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065307	NM_001193375.3(NDUFA11):c.590_600del (p.His197fs)	NDUFA11 (H197fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 2649128	NM_175614.5(NDUFA11):c.39C>G (p.Pro13=)	LOC112552175, NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582365	NM_001193375.3(NDUFA11):c.559C>T (p.Arg187Trp)	NDUFA11 (R187W)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 2441885	NM_001193375.3(NDUFA11):c.470_471del (p.Ser157fs)	NDUFA11 (S157fs)	Microsatellite (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 2441868	NM_175614.5(NDUFA11):c.191-31G>A	NDUFA11	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 14	GUncertain significance
Select item 2319736	NM_175614.5(NDUFA11):c.85G>T (p.Ala29Ser)	LOC112552175, NDUFA11 (A29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1960439	NM_175614.5(NDUFA11):c.97+12C>T	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919798	NM_175614.5(NDUFA11):c.8C>T (p.Pro3Leu)	LOC112552175, NDUFA11 (P3L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909557	NM_175614.5(NDUFA11):c.4G>A (p.Ala2Thr)	LOC112552175, NDUFA11 (A2T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1667879	NM_175614.5(NDUFA11):c.6G>C (p.Ala2=)	LOC112552175, NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1641687	NM_175614.5(NDUFA11):c.97+16G>T	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1431351	NM_175614.5(NDUFA11):c.32A>C (p.Asp11Ala)	LOC112552175, NDUFA11 (D11A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1368445	NM_175614.5(NDUFA11):c.59G>A (p.Arg20His)	LOC112552175, NDUFA11 (R20H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1339558	NM_175614.5(NDUFA11):c.65C>T (p.Ala22Val)	LOC112552175, NDUFA11 (A22V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 14	GLikely pathogenic
Select item 894524	NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser)	LOC112552175, NDUFA11 (A22S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 676292	NM_175614.5(NDUFA11):c.97+144G>C	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509667	NM_175614.5(NDUFA11):c.54C>T (p.Cys18=)	LOC112552175, NDUFA11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 507694	NM_175614.5(NDUFA11):c.-33G>T	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 449316	NM_175614.5(NDUFA11):c.97+5G>A	LOC112552175, NDUFA11	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 393269	NM_175614.5(NDUFA11):c.97+1G>A	LOC112552175, NDUFA11	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 381071	NM_175614.5(NDUFA11):c.-43C>T	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 330238	NM_175614.5(NDUFA11):c.-51T>G	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 330237	NM_175614.5(NDUFA11):c.-31G>A	LOC112552175, NDUFA11	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 214693	NM_175614.5(NDUFA11):c.30G>T (p.Trp10Cys)	LOC112552175, NDUFA11 (W10C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 138443	NM_175614.5(NDUFA11):c.48C>T (p.Thr16=)	LOC112552175, NDUFA11	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity

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Items: 26