513[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063093, LOC130063094 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	ABCA7, ABHD17A +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	LOC130062858, LOC130062859 +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	LOC121627846, LOC121627847 +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	ABCA7, ABHD17A +222 more	Copy number loss	See cases	GPathogenic
Select item 145202	GRCh38/hg38 19p13.3(chr19:1228275-1282856)x3	ATP5F1D, CBARP +42 more	Copy number gain	See cases	GBenign
Select item 152547	GRCh38/hg38 19p13.3(chr19:1239075-1282856)x3	ATP5F1D, CBARP-DT +39 more	Copy number gain	See cases	GBenign
Select item 3131682	NM_001687.5(ATP5F1D):c.-4_14dup (p.Ala5_Leu6insAlaMetLeuProAlaAla)	ATP5F1D	Duplication (inframe_insertion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030918	NM_001687.5(ATP5F1D):c.-10C>T	ATP5F1D	Single nucleotide variant (5 prime UTR variant)	ATP5F1D-related disorder	GLikely benign
Select item 1922611	NM_001687.5(ATP5F1D):c.9C>T (p.Pro3=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131679	NM_001687.5(ATP5F1D):c.13G>A (p.Ala5Thr)	ATP5F1D (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075752	NM_001687.5(ATP5F1D):c.16C>G (p.Leu6Val)	ATP5F1D (L6V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470965	NM_001687.5(ATP5F1D):c.22C>T (p.Arg8Cys)	ATP5F1D (R8C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682802	NM_001687.5(ATP5F1D):c.25C>T (p.Arg9Cys)	ATP5F1D (R9C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2006080	NM_001687.5(ATP5F1D):c.26G>C (p.Arg9Pro)	ATP5F1D (R9P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251069	NM_001687.5(ATP5F1D):c.30G>T (p.Pro10=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018629	NM_001687.5(ATP5F1D):c.40C>T (p.Arg14Cys)	ATP5F1D (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055671	NM_001687.5(ATP5F1D):c.45C>T (p.Leu15=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682803	NM_001687.5(ATP5F1D):c.45C>A (p.Leu15=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712202	NM_001687.5(ATP5F1D):c.46G>C (p.Val16Leu)	ATP5F1D (V16L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2155359	NM_001687.5(ATP5F1D):c.51C>T (p.Arg17=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3131685	NM_001687.5(ATP5F1D):c.58C>T (p.Arg20Cys)	ATP5F1D (R20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193534	NM_001687.5(ATP5F1D):c.59G>C (p.Arg20Pro)	ATP5F1D (R20P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048389	NM_001687.5(ATP5F1D):c.64_78dup (p.Ala26_Ala27insTyrAlaGluAlaAla)	ATP5F1D	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2194374	NM_001687.5(ATP5F1D):c.63C>T (p.Ala21=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951590	NM_001687.5(ATP5F1D):c.69C>T (p.Ala23=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776753	NM_001687.5(ATP5F1D):c.73GCC[5] (p.Ala28_Pro29insAla)	ATP5F1D, LOC130062903	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3000324	NM_001687.5(ATP5F1D):c.74C>T (p.Ala25Val)	ATP5F1D, LOC130062903 (A25V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981016	NM_001687.5(ATP5F1D):c.80C>A (p.Ala27Asp)	ATP5F1D, LOC130062903 (A27D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2172457	NM_001687.5(ATP5F1D):c.83C>T (p.Ala28Val)	ATP5F1D, LOC130062903 (A28V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967380	NM_001687.5(ATP5F1D):c.86C>T (p.Pro29Leu)	ATP5F1D, LOC130062903 (P29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3640259	NM_001687.5(ATP5F1D):c.95C>T (p.Ala32Val)	ATP5F1D, LOC130062903 (A32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997996	NM_001687.5(ATP5F1D):c.97T>C (p.Ser33Pro)	ATP5F1D, LOC130062903 (S33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3131686	NM_001687.5(ATP5F1D):c.98C>G (p.Ser33Cys)	ATP5F1D, LOC130062903 (S33C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955875	NM_001687.5(ATP5F1D):c.99T>C (p.Ser33=)	ATP5F1D, LOC130062903	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2416897	NM_001687.5(ATP5F1D):c.100G>A (p.Gly34Ser)	ATP5F1D, LOC130062903 (G34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3457798	NM_001687.5(ATP5F1D):c.103C>G (p.Pro35Ala)	ATP5F1D, LOC130062903 (P35A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2128054	NM_001687.5(ATP5F1D):c.111G>A (p.Gln37=)	ATP5F1D, LOC130062903	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3691756	NM_001687.5(ATP5F1D):c.112A>T (p.Met38Leu)	ATP5F1D, LOC130062903 (M38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682804	NM_001687.5(ATP5F1D):c.112A>G (p.Met38Val)	ATP5F1D, LOC130062903 (M38V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1899739	NM_001687.5(ATP5F1D):c.114G>A (p.Met38Ile)	ATP5F1D, LOC130062903 (M38I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051897	NM_001687.5(ATP5F1D):c.117C>T (p.Ser39=)	ATP5F1D, LOC130062903	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746580	NM_001687.5(ATP5F1D):c.135C>A (p.Pro45=)	ATP5F1D, LOC130062903	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036825	NM_001687.5(ATP5F1D):c.141+6G>C	ATP5F1D, LOC130062903	Single nucleotide variant (intron variant)	ATP5F1D-related disorder	GLikely benign
Select item 2972024	NM_001687.5(ATP5F1D):c.141+9G>C	ATP5F1D, LOC130062903	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175553	NM_001687.5(ATP5F1D):c.141+58C>T	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3691314	NM_001687.5(ATP5F1D):c.142-20C>A	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020327	NM_001687.5(ATP5F1D):c.142-16A>G	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3712167	NM_001687.5(ATP5F1D):c.147C>T (p.Phe49=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929590	NM_001687.5(ATP5F1D):c.148T>C (p.Phe50Leu)	ATP5F1D (F50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3329351	NM_001687.5(ATP5F1D):c.152A>C (p.Asn51Thr)	ATP5F1D (N51T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682805	NM_001687.5(ATP5F1D):c.152A>G (p.Asn51Ser)	ATP5F1D (N51S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3692077	NM_001687.5(ATP5F1D):c.154G>T (p.Gly52Cys)	ATP5F1D (G52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3806573	NM_001687.5(ATP5F1D):c.158C>T (p.Ala53Val)	ATP5F1D (A53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131681	NM_001687.5(ATP5F1D):c.161A>G (p.Asn54Ser)	ATP5F1D (N54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2907630	NM_001687.5(ATP5F1D):c.161A>C (p.Asn54Thr)	ATP5F1D (N54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3329341	NM_001687.5(ATP5F1D):c.167G>A (p.Arg56Gln)	ATP5F1D (R56Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682806	NM_001687.5(ATP5F1D):c.170A>G (p.Gln57Arg)	ATP5F1D (Q57R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2992952	NM_001687.5(ATP5F1D):c.178G>A (p.Val60Met)	ATP5F1D (V60M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682807	NM_001687.5(ATP5F1D):c.179T>C (p.Val60Ala)	ATP5F1D (V60A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1682808	NM_001687.5(ATP5F1D):c.183C>T (p.Pro61=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013161	NM_001687.5(ATP5F1D):c.185C>T (p.Thr62Met)	ATP5F1D (T62M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3685870	NM_001687.5(ATP5F1D):c.186G>A (p.Thr62=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993269	NM_001687.5(ATP5F1D):c.186_187delinsAA (p.Leu63Met)	ATP5F1D (L63M)	Indel (missense variant)	not provided	GUncertain significance
Select item 1910521	NM_001687.5(ATP5F1D):c.197C>G (p.Ala66Gly)	ATP5F1D (A66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931656	NM_001687.5(ATP5F1D):c.212C>T (p.Ala71Val)	ATP5F1D (A71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983501	NM_001687.5(ATP5F1D):c.218A>C (p.His73Pro)	ATP5F1D (H73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843955	NM_001687.5(ATP5F1D):c.231G>T (p.Leu77=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085032	NM_001687.5(ATP5F1D):c.235G>A (p.Val79Ile)	ATP5F1D (V79I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3610580	NM_001687.5(ATP5F1D):c.236T>C (p.Val79Ala)	ATP5F1D (V79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453296	NM_001687.5(ATP5F1D):c.245C>T (p.Pro82Leu)	ATP5F1D (P82L)	Single nucleotide variant (missense variant)	Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 +1 more	GPathogenic
Select item 3696299	NM_001687.5(ATP5F1D):c.249G>A (p.Gly83=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3457834	NM_001687.5(ATP5F1D):c.250C>G (p.Leu84Val)	ATP5F1D (L84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682809	NM_001687.5(ATP5F1D):c.261G>C (p.Val87=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2473777	NM_001687.5(ATP5F1D):c.262C>T (p.His88Tyr)	ATP5F1D (H88Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1958423	NM_001687.5(ATP5F1D):c.272A>G (p.Asp91Gly)	ATP5F1D (D91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3457788	NM_001687.5(ATP5F1D):c.274G>C (p.Gly92Arg)	ATP5F1D (G92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2073201	NM_001687.5(ATP5F1D):c.278C>T (p.Thr93Ile)	ATP5F1D (T93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072478	NM_001687.5(ATP5F1D):c.291C>G (p.Tyr97Ter)	ATP5F1D (Y97*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3329358	NM_001687.5(ATP5F1D):c.294T>G (p.Phe98Leu)	ATP5F1D (F98L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2858451	NM_001687.5(ATP5F1D):c.294T>C (p.Phe98=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2908738	NM_001687.5(ATP5F1D):c.295+5G>T	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990870	NM_001687.5(ATP5F1D):c.295+20G>A	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3690561	NM_001687.5(ATP5F1D):c.296-17C>G	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968428	NM_001687.5(ATP5F1D):c.296-16C>T	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961985	NM_001687.5(ATP5F1D):c.296-15G>A	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2901752	NM_001687.5(ATP5F1D):c.296-6C>T	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040836	NM_001687.5(ATP5F1D):c.296-5C>T	ATP5F1D	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3605927	NM_001687.5(ATP5F1D):c.303C>T (p.Ser101=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139039	NM_001687.5(ATP5F1D):c.304G>A (p.Gly102Ser)	ATP5F1D (G102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1682810	NM_001687.5(ATP5F1D):c.312C>T (p.Ile104=)	ATP5F1D	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3457823	NM_001687.5(ATP5F1D):c.313G>A (p.Ala105Thr)	ATP5F1D (A105T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3036061	NM_001687.5(ATP5F1D):c.315A>G (p.Ala105=)	ATP5F1D	Single nucleotide variant (synonymous variant)	ATP5F1D-related disorder	GLikely benign
Select item 2620254	NM_001687.5(ATP5F1D):c.317T>C (p.Val106Ala)	ATP5F1D (V106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 489386	NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly)	ATP5F1D (V106G)	Single nucleotide variant (missense variant)	Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 +1 more	GPathogenic

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