51079[geneid] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2434082	NM_015965.7(NDUFA13):c.2T>C (p.Met1Thr)	LOC130064074, NDUFA13 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 28	GUncertain significance
Select item 1693	NM_015965.7(NDUFA13):c.15G>C (p.Lys5Asn)	LOC130064074, NDUFA13 (K5N)	Single nucleotide variant (missense variant)	Hurthle cell carcinoma of thyroid	GPathogenic
Select item 2217053	NM_015965.7(NDUFA13):c.17T>C (p.Val6Ala)	LOC130064074, NDUFA13 (V6A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1967493	NM_015965.7(NDUFA13):c.22C>G (p.Gln8Glu)	LOC130064074, NDUFA13 (Q8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535285	NM_015965.7(NDUFA13):c.28A>G (p.Met10Val)	LOC130064074, NDUFA13 (M10V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196189	NM_015965.7(NDUFA13):c.29T>C (p.Met10Thr)	LOC130064074, NDUFA13 (M10T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2590699	NM_015965.7(NDUFA13):c.30G>A (p.Met10Ile)	LOC130064074, NDUFA13 (M10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404988	NM_015965.7(NDUFA13):c.30G>T (p.Met10Ile)	LOC130064074, NDUFA13 (M10I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614074	NM_015965.7(NDUFA13):c.31C>A (p.Pro11Thr)	LOC130064074, NDUFA13 (P11T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187054	NM_015965.7(NDUFA13):c.32C>T (p.Pro11Leu)	LOC130064074, NDUFA13 (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441769	NM_015965.7(NDUFA13):c.44dup (p.Tyr16fs)	LOC130064074, NDUFA13 (Y16fs)	Duplication (frameshift variant)	Hurthle cell carcinoma of thyroid +1 more	GLikely pathogenic
Select item 2143521	NM_015965.7(NDUFA13):c.41G>C (p.Gly14Ala)	LOC130064074, NDUFA13 (G14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198472	NM_015965.7(NDUFA13):c.44G>A (p.Gly15Asp)	LOC130064074, NDUFA13 (G15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282057	NM_015965.7(NDUFA13):c.45C>A (p.Gly15=)	LOC130064074, NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2649609	NM_015965.7(NDUFA13):c.51G>T (p.Gly17=)	LOC130064074, NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134141	NM_015965.7(NDUFA13):c.67del (p.Arg23fs)	LOC130064074, NDUFA13 (R23fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2155286	NM_015965.7(NDUFA13):c.74T>G (p.Leu25Trp)	LOC130064074, NDUFA13 (L25W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1945071	NM_015965.7(NDUFA13):c.91T>G (p.Ser31Ala)	NDUFA13, LOC130064074 (S31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671946	NM_015965.7(NDUFA13):c.94+1G>A	LOC130064074, NDUFA13	Single nucleotide variant (splice donor variant)	Hurthle cell carcinoma of thyroid +1 more	GLikely pathogenic
Select item 1917976	NM_015965.7(NDUFA13):c.94+3C>G	LOC130064074, NDUFA13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1535703	NM_015965.7(NDUFA13):c.95-13C>T	LOC125371495, NDUFA13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2023406	NM_015965.7(NDUFA13):c.95-5C>T	LOC125371495, NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128793	NM_015965.7(NDUFA13):c.98A>G (p.Tyr33Cys)	LOC125371495, NDUFA13 (Y33C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983478	NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)	LOC125371495, NDUFA13 (L36P)	Single nucleotide variant (missense variant)	Leigh syndrome +5 more	GPathogenic
Select item 2065711	NM_015965.7(NDUFA13):c.125C>A (p.Thr42Asn)	LOC125371495, NDUFA13 (T42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155336	NM_015965.7(NDUFA13):c.134A>G (p.Tyr45Cys)	LOC125371495, NDUFA13 (Y45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111463	NM_015965.7(NDUFA13):c.144G>C (p.Trp48Cys)	LOC125371495, NDUFA13 (W48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 132643	NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	LOC125371495, NDUFA13 (R57H)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +1 more	GPathogenic
Select item 2021038	NM_015965.7(NDUFA13):c.173+3A>G	LOC125371495, NDUFA13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919682	NM_015965.7(NDUFA13):c.173+18C>T	LOC125371495, NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899877	NM_015965.7(NDUFA13):c.174-13C>T	NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1993861	NM_015965.7(NDUFA13):c.174-10G>A	NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2253936	NM_015965.7(NDUFA13):c.174-3C>T	NDUFA13	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2069279	NM_015965.7(NDUFA13):c.187G>A (p.Glu63Lys)	NDUFA13 (E63K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 983476	NM_015965.7(NDUFA13):c.194del (p.Phe65fs)	NDUFA13 (F65fs)	Deletion (frameshift variant)	Leigh syndrome +5 more	GPathogenic
Select item 2540137	NM_015965.7(NDUFA13):c.207C>G (p.Ile69Met)	NDUFA13 (I69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2070330	NM_015965.7(NDUFA13):c.208G>A (p.Ala70Thr)	NDUFA13 (A70T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726535	NM_015965.7(NDUFA13):c.210G>C (p.Ala70=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2428334	NM_015965.7(NDUFA13):c.242G>A (p.Arg81Gln)	NDUFA13 (R81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931629	NM_015965.7(NDUFA13):c.245+11A>G	NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656344	NM_015965.7(NDUFA13):c.246-16_246-13dup	NDUFA13	Duplication (intron variant)	not provided	GBenign
Select item 2019518	NM_015965.7(NDUFA13):c.246-15G>A	NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950211	NM_015965.7(NDUFA13):c.253C>G (p.Gln85Glu)	NDUFA13 (Q85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982764	NM_015965.7(NDUFA13):c.262C>T (p.Arg88Trp)	NDUFA13 (R88W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3014759	NM_015965.7(NDUFA13):c.300C>T (p.Asp100=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026405	NM_015965.7(NDUFA13):c.306C>T (p.Pro102=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023028	NM_015965.7(NDUFA13):c.313_315+15dup	NDUFA13	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 746069	NM_015965.7(NDUFA13):c.315+10G>A	NDUFA13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2478070	NM_015965.7(NDUFA13):c.338C>A (p.Thr113Lys)	NDUFA13 (T113K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957663	NM_015965.7(NDUFA13):c.351G>A (p.Val117=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3187058	NM_015965.7(NDUFA13):c.352C>T (p.Pro118Ser)	NDUFA13 (P118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933589	NM_015965.7(NDUFA13):c.366G>A (p.Gly122=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054888	NM_015965.7(NDUFA13):c.375C>T (p.Tyr125=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1922998	NM_015965.7(NDUFA13):c.382C>T (p.Arg128Cys)	NDUFA13 (R128C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550038	NM_015965.7(NDUFA13):c.392A>G (p.Glu131Gly)	NDUFA13 (E131G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187062	NM_015965.7(NDUFA13):c.398C>G (p.Ala133Gly)	NDUFA13 (A133G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2113346	NM_015965.7(NDUFA13):c.400C>T (p.Leu134Phe)	NDUFA13 (L134F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192745	NM_015965.7(NDUFA13):c.414C>T (p.His138=)	NDUFA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177936	NM_015965.7(NDUFA13):c.431C>T (p.Thr144Met)	NDUFA13 (T144M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672263	NM_015965.7(NDUFA13):c.433T>C (p.Ter145Gln)	NDUFA13	Single nucleotide variant (stop lost)	Mitochondrial complex 1 deficiency, nuclear type 28	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688889	GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	ATP13A1, CILP2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71