4720[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931748, LOC129931749 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2279296	NM_005099.6(ADAMTS4):c.548G>A (p.Arg183Gln)	ADAMTS4, NDUFS2 (R183Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537579	NM_005099.6(ADAMTS4):c.545G>A (p.Arg182His)	ADAMTS4, NDUFS2 (R182H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598261	NM_005099.6(ADAMTS4):c.527C>G (p.Pro176Arg)	ADAMTS4, NDUFS2 (P176R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307086	NM_005099.6(ADAMTS4):c.376A>G (p.Thr126Ala)	ADAMTS4, NDUFS2 (T126A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024829	NM_005099.6(ADAMTS4):c.298T>C (p.Ser100Pro)	NDUFS2, ADAMTS4 (S100P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2512660	NM_005099.6(ADAMTS4):c.272C>T (p.Thr91Met)	ADAMTS4, NDUFS2 (T91M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353295	NM_005099.6(ADAMTS4):c.251G>A (p.Arg84His)	ADAMTS4, NDUFS2 (R84H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523435	NM_005099.6(ADAMTS4):c.205G>A (p.Gly69Ser)	ADAMTS4, NDUFS2 (G69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257408	NM_005099.6(ADAMTS4):c.184G>A (p.Val62Met)	ADAMTS4, NDUFS2 (V62M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605864	NM_005099.6(ADAMTS4):c.41G>A (p.Gly14Glu)	ADAMTS4, NDUFS2 (G14E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374200	NM_005099.6(ADAMTS4):c.25G>A (p.Gly9Arg)	ADAMTS4, NDUFS2 (G9R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2299180	NM_005099.6(ADAMTS4):c.20A>G (p.His7Arg)	ADAMTS4, NDUFS2 (H7R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 293262	NM_004550.5(NDUFS2):c.-388G>T	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 293261	NM_004550.5(NDUFS2):c.-388G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293263	NM_004550.5(NDUFS2):c.-346G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293264	NM_004550.5(NDUFS2):c.-298C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 1207148	NM_004550.5(NDUFS2):c.-239-201A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138488	NM_004550.5(NDUFS2):c.-223C>G	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 293265	NM_004550.5(NDUFS2):c.-218G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293266	NM_004550.5(NDUFS2):c.-159C>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 293267	NM_004550.5(NDUFS2):c.-156G>A	NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 507519	NM_004550.5(NDUFS2):c.-45T>C	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 293268	NM_004550.5(NDUFS2):c.-28C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 514078	NM_004550.5(NDUFS2):c.-26T>A	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 138489	NM_004550.5(NDUFS2):c.-20C>T	LOC129931761, NDUFS2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2901771	NM_001377299.1(NDUFS2):c.16G>A (p.Ala6Thr)	LOC129931761, NDUFS2 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192777	NM_001377299.1(NDUFS2):c.25G>A (p.Gly9Ser)	LOC129931761, NDUFS2 (G9S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214788	NM_001377299.1(NDUFS2):c.30C>A (p.Phe10Leu)	LOC129931761, NDUFS2 (F10L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 516382	NM_001377299.1(NDUFS2):c.39C>A (p.Val13=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GBenign/Likely benign
Select item 2610824	NM_001377299.1(NDUFS2):c.53T>G (p.Leu18Arg)	LOC129931761, NDUFS2 (L18R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 293269	NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr)	LOC129931761, NDUFS2 (P20T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 2136289	NM_001377299.1(NDUFS2):c.59C>T (p.Pro20Leu)	LOC129931761, NDUFS2 (P20L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1537297	NM_001377299.1(NDUFS2):c.60T>G (p.Pro20=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1948439	NM_001377299.1(NDUFS2):c.63G>T (p.Gly21=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214789	NM_001377299.1(NDUFS2):c.70G>C (p.Val24Leu)	LOC129931761, NDUFS2 (V24L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2888421	NM_001377299.1(NDUFS2):c.75A>G (p.Arg25=)	LOC129931761, NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related condition +1 more	GLikely benign
Select item 2255821	NM_001377299.1(NDUFS2):c.80C>G (p.Pro27Arg)	LOC129931761, NDUFS2 (P27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 391385	NM_001377299.1(NDUFS2):c.95+8C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 214790	NM_001377299.1(NDUFS2):c.95+9G>C	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1991136	NM_001377299.1(NDUFS2):c.95+11G>A	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 293270	NM_001377299.1(NDUFS2):c.95+14C>T	LOC129931761, NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1187689	NM_001377299.1(NDUFS2):c.95+243G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672559	NM_001377299.1(NDUFS2):c.95+255C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1975520	NM_001377299.1(NDUFS2):c.96-17T>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 731292	NM_001377299.1(NDUFS2):c.96-8C>T	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related condition +1 more	GLikely benign
Select item 1691709	NM_001377299.1(NDUFS2):c.96-2A>G	NDUFS2	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 293271	NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp)	NDUFS2 (G33D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1513273	NM_001377299.1(NDUFS2):c.103C>T (p.Arg35Trp)	NDUFS2 (R35W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671173	NM_001377299.1(NDUFS2):c.114G>A (p.Gln38=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734528	NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2064327	NM_001377299.1(NDUFS2):c.122T>G (p.Val41Gly)	NDUFS2 (V41G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1451468	NM_001377299.1(NDUFS2):c.128G>A (p.Trp43Ter)	NDUFS2 (W43*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2170214	NM_001377299.1(NDUFS2):c.146G>A (p.Gly49Glu)	NDUFS2 (G49E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2770685	NM_001377299.1(NDUFS2):c.150T>A (p.Ala50=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 214799	NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys)	NDUFS2 (Y53C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 293272	NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 2167412	NM_001377299.1(NDUFS2):c.168A>C (p.Lys56Asn)	NDUFS2 (K56N)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2548127	NM_001377299.1(NDUFS2):c.175G>T (p.Ala59Ser)	NDUFS2 (A59S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 214791	NM_001377299.1(NDUFS2):c.177C>T (p.Ala59=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	NDUFS2-related condition +3 more	GBenign/Likely benign
Select item 2860951	NM_001377299.1(NDUFS2):c.186G>A (p.Lys62=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1480935	NM_001377299.1(NDUFS2):c.188C>T (p.Pro63Leu)	NDUFS2 (P63L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3051643	NM_001377299.1(NDUFS2):c.202+3G>A	NDUFS2	Single nucleotide variant (intron variant)	NDUFS2-related condition	GLikely benign
Select item 1180403	NM_001377299.1(NDUFS2):c.203-230del	NDUFS2	Deletion (intron variant)	not provided	GBenign
Select item 1229436	NM_001377299.1(NDUFS2):c.203-60A>G	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2128530	NM_001377299.1(NDUFS2):c.203-8C>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642928	NM_001377299.1(NDUFS2):c.203-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214792	NM_001377299.1(NDUFS2):c.212C>T (p.Pro71Leu)	NDUFS2 (P71L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2413148	NM_001377299.1(NDUFS2):c.245T>A (p.Leu82Gln)	NDUFS2 (L82Q)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6	GUncertain significance
Select item 1912335	NM_001377299.1(NDUFS2):c.267A>G (p.Pro89=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522715	NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr)	NDUFS2 (A90T)	Single nucleotide variant (missense variant +1 more)	Leber optic atrophy	GLikely pathogenic
Select item 1245564	NM_001377299.1(NDUFS2):c.273G>A (p.Ala91=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 735425	NM_001377299.1(NDUFS2):c.285G>A (p.Leu95=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486660	NM_001377299.1(NDUFS2):c.287G>A (p.Arg96Gln)	NDUFS2 (R96Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1208141	NM_001377299.1(NDUFS2):c.287G>C (p.Arg96Pro)	NDUFS2 (R96P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2202875	NM_001377299.1(NDUFS2):c.329A>T (p.Asp110Val)	NDUFS2 (D110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 293273	NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val)	NDUFS2 (I113V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 743418	NM_001377299.1(NDUFS2):c.339C>T (p.Ile113=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1391900	NM_001377299.1(NDUFS2):c.351C>G (p.His117Gln)	NDUFS2 (H117Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1643002	NM_001377299.1(NDUFS2):c.354A>G (p.Arg118=)	NDUFS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1350500	NM_001377299.1(NDUFS2):c.376T>C (p.Tyr126His)	NDUFS2 (Y126H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910056	NM_001377299.1(NDUFS2):c.393+5G>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 214800	NM_001377299.1(NDUFS2):c.393+5G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 682109	NM_001377299.1(NDUFS2):c.393+12G>A	NDUFS2	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GLikely benign
Select item 676273	NM_001377299.1(NDUFS2):c.393+132G>A	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671138	NM_001377299.1(NDUFS2):c.394-299T>C	NDUFS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176843	NM_001377299.1(NDUFS2):c.394-8C>T	NDUFS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2309917	NM_001377299.1(NDUFS2):c.410A>G (p.Asp137Gly)	NDUFS2 (D137G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1422418	NM_001377299.1(NDUFS2):c.412C>T (p.Arg138Trp)	NDUFS2 (R138W)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 2202876	NM_001377299.1(NDUFS2):c.413G>A (p.Arg138Gln)	NDUFS2 (R138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030813	NM_001377299.1(NDUFS2):c.422A>G (p.Tyr141Cys)	NDUFS2 (Y141C)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 6 +1 more	GUncertain significance
Select item 286051	NM_001377299.1(NDUFS2):c.424G>A (p.Val142Met)	NDUFS2 (V142M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1466759	NM_001377299.1(NDUFS2):c.430A>G (p.Met144Val)	NDUFS2 (M144V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1058462	NM_001377299.1(NDUFS2):c.435G>A (p.Met145Ile)	NDUFS2 (M145I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 293274	NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=)	NDUFS2	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial complex I deficiency, nuclear type 1	GUncertain significance
Select item 872511	NM_001377299.1(NDUFS2):c.442G>A (p.Glu148Lys)	NDUFS2 (E148K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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