NDUFA6[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147621	GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	ACO2, CCDC134 +109 more	Copy number gain	See cases	GPathogenic
Select item 147321	GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	LOC130067597, LOC130067598 +91 more	Copy number loss	See cases	GUncertain significance
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 1098636	NM_002490.6(NDUFA6):c.387A>C (p.Ter129Cys)	NDUFA6	Single nucleotide variant (stop lost)	Mitochondrial complex 1 deficiency, nuclear type 33	GUncertain significance
Select item 1298897	NM_002490.6(NDUFA6):c.378C>T (p.His126=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1896741	NM_002490.6(NDUFA6):c.375C>A (p.Gly125=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919526	NM_002490.6(NDUFA6):c.368A>G (p.Tyr123Cys)	NDUFA6 (Y123C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022332	NM_002490.6(NDUFA6):c.365T>C (p.Phe122Ser)	NDUFA6 (F122S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918608	NM_002490.6(NDUFA6):c.361A>G (p.Lys121Glu)	NDUFA6 (K121E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549666	NM_002490.6(NDUFA6):c.355del (p.Leu119fs)	NDUFA6 (L119fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 33 +1 more	GPathogenic
Select item 2984670	NM_002490.6(NDUFA6):c.336G>A (p.Ala112=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911999	NM_002490.6(NDUFA6):c.335C>T (p.Ala112Val)	NDUFA6 (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487475	NM_002490.6(NDUFA6):c.331_332del (p.Glu111fs)	NDUFA6 (E111fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 33 +1 more	GPathogenic
Select item 218611	NM_002490.6(NDUFA6):c.322C>T (p.His108Tyr)	NDUFA6 (H108Y)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3023203	NM_002490.6(NDUFA6):c.321C>T (p.Phe107=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931378	NM_002490.6(NDUFA6):c.315G>T (p.Arg105=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243035	NM_002490.6(NDUFA6):c.314G>A (p.Arg105Gln)	NDUFA6 (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 549665	NM_002490.6(NDUFA6):c.309del (p.Met104fs)	NDUFA6 (M104fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1898311	NM_002490.6(NDUFA6):c.305_306del (p.His102fs)	NDUFA6 (H102fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2316959	NM_002490.6(NDUFA6):c.299G>A (p.Arg100Gln)	NDUFA6 (R100Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1324784	NM_002490.6(NDUFA6):c.281_284del (p.Ile94fs)	NDUFA6 (I94fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2783599	NM_002490.6(NDUFA6):c.270G>A (p.Leu90=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 487478	NM_002490.6(NDUFA6):c.265G>T (p.Glu89Ter)	NDUFA6 (E89*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 33 +1 more	GPathogenic
Select item 1950263	NM_002490.6(NDUFA6):c.264C>T (p.Ile88=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911210	NM_002490.6(NDUFA6):c.256-15C>T	NDUFA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287028	NM_002490.6(NDUFA6):c.256-184G>C	NDUFA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600266	NM_002490.6(NDUFA6):c.255+18A>C	NDUFA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2002685	NM_002490.6(NDUFA6):c.255+10C>T	NDUFA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678760	NM_002490.6(NDUFA6):c.255+5C>T	NDUFA6	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1436243	NM_002490.6(NDUFA6):c.252T>G (p.Ile84Met)	NDUFA6 (I84M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024622	NM_002490.6(NDUFA6):c.251T>C (p.Ile84Thr)	NDUFA6 (I84T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909484	NM_002490.6(NDUFA6):c.229A>G (p.Arg77Gly)	NDUFA6 (R77G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487477	NM_002490.6(NDUFA6):c.191G>C (p.Arg64Pro)	NDUFA6 (R64P)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 33 +1 more	GPathogenic
Select item 1920394	NM_002490.6(NDUFA6):c.179G>A (p.Arg60Gln)	NDUFA6 (R60Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601955	NM_002490.6(NDUFA6):c.178C>T (p.Arg60Trp)	NDUFA6 (R60W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934532	NM_002490.6(NDUFA6):c.139+7G>C	NDUFA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2092046	NM_002490.6(NDUFA6):c.139+4A>G	NDUFA6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872774	NM_002490.6(NDUFA6):c.118T>C (p.Tyr40His)	NDUFA6 (Y40H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932167	NM_002490.6(NDUFA6):c.116G>A (p.Trp39Ter)	NDUFA6 (W39*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2776838	NM_002490.6(NDUFA6):c.105C>A (p.Leu35=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933795	NM_002490.6(NDUFA6):c.82G>A (p.Ala28Thr)	NDUFA6 (A28T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1638173	NM_002490.6(NDUFA6):c.48C>T (p.Phe16=)	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958750	NM_002490.6(NDUFA6):c.41G>A (p.Ser14Asn)	NDUFA6 (S14N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483787	NM_002490.6(NDUFA6):c.40A>C (p.Ser14Arg)	NDUFA6 (S14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1988286	NM_002490.6(NDUFA6):c.38C>T (p.Ala13Val)	NDUFA6 (A13V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1244198	NM_002490.6(NDUFA6):c.26C>T (p.Ala9Val)	NDUFA6 (A9V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1492492	NM_002490.6(NDUFA6):c.13G>T (p.Gly5Cys)	NDUFA6 (G5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2138452	NM_002490.6(NDUFA6):c.11G>A (p.Ser4Asn)	NDUFA6 (S4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187137	NM_002490.6(NDUFA6):c.10A>G (p.Ser4Gly)	NDUFA6 (S4G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253937	NM_002490.6(NDUFA6):c.5C>T (p.Ala2Val)	NDUFA6 (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 487476	NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)	NDUFA6 (M1I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 33 +1 more	GPathogenic
Select item 2293172	NM_002490.6(NDUFA6):c.1A>T (p.Met1Leu)	NDUFA6 (M1L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1509773	NM_002490.6(NDUFA6):c.-7T>G	NDUFA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1953168	NM_002490.6(NDUFA6):c.-11G>T	NDUFA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1898947	NM_002490.6(NDUFA6):c.-13A>C	NDUFA6	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2042050	NM_002490.6(NDUFA6):c.-14G>A	NDUFA6	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1987400	NM_002490.6(NDUFA6):c.-17G>A	NDUFA6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1898804	NC_000022.11:g.42090785G>A	NDUFA6 (A13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1644598	NC_000022.11:g.42090787A>G	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050255	NM_002490.4(NDUFA6):c.33C>A (p.Arg11=)	NDUFA6	Single nucleotide variant (synonymous variant)	NDUFA6-related disorder	GLikely benign
Select item 2785542	NC_000022.11:g.42090796G>A	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956179	NC_000022.11:g.42090799C>T	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274333	NM_002490.4(NDUFA6):c.23G>C (p.Arg8Pro)	NDUFA6 (R8P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2768897	NC_000022.11:g.42090805G>A	NDUFA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3148861	GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	ACO2, CCDC134 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2425394	NC_000022.10:g.(?_42456283)_(43089957_?)del	A4GALT, ATP5MGL +11 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 1447656	NC_000022.10:g.(?_41277754)_(43089957_?)dup	ATP5MGL, CCDC134 +38 more	Duplication	Immunodeficiency, common variable, 4	GUncertain significance
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1077183	Single allele	A4GALT, ARFGAP3 +19 more	Deletion	Developmental delay with variable intellectual impairment and behavioral abnormalities	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 997811	Single allele	WBP2NL, ARFGAP3 +21 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565011	GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	NDUFA6, WBP2NL +21 more	Copy number gain	not provided	GLikely pathogenic
Select item 443784	GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	ACO2, CCDC134 +22 more	Copy number gain	See cases	GUncertain significance
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395346	GRCh37/hg19 22q13.2(chr22:42486662-42536651)x3	CYP2D6, NDUFA6	Copy number gain	See cases	GBenign/Likely benign
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394952	GRCh37/hg19 22q13.2(chr22:42486662-42525705)x3	CYP2D6, NDUFA6	Copy number gain	See cases	GBenign
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 393742	GRCh37/hg19 22q13.2(chr22:42486662-42540449)x3	CYP2D6, NDUFA6	Copy number gain	See cases	GBenign/Likely benign
Select item 253756	GRCh37/hg19 22q13.2(chr22:42207144-42776457)x1	SMDT1, NDUFA6 +13 more	Copy number loss	See cases	GUncertain significance
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 97