22868[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 430

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 59163	GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3	ADAM23, CPO +17 more	Copy number gain	See cases	GPathogenic
Select item 1253085	NC_000002.12:g.206765369C>A	FASTKD2	Single nucleotide variant	not provided	GBenign
Select item 333791	NM_014929.3(FASTKD2):c.-178T>C	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898017	NM_014929.3(FASTKD2):c.-158T>C	LOC129935479, FASTKD2	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333792	NM_014929.3(FASTKD2):c.-127G>C	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333793	NM_014929.3(FASTKD2):c.-123T>G	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899133	NM_001136193.2(FASTKD2):c.-190A>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333794	NM_001136193.2(FASTKD2):c.-184C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 333795	NM_001136193.2(FASTKD2):c.-181G>A	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 380988	NM_001136193.2(FASTKD2):c.-163T>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137297	NM_001136193.2(FASTKD2):c.-162C>T	LOC129935479, FASTKD2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 509670	NM_001136193.2(FASTKD2):c.-159G>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 386023	NM_001136193.2(FASTKD2):c.-150C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 333796	NM_001136193.2(FASTKD2):c.-130G>A	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 512769	NM_001136193.2(FASTKD2):c.-124G>C	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 137298	NM_001136193.2(FASTKD2):c.-51A>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation deficiency 44 +2 more	GBenign/Likely benign
Select item 1200903	NM_001136193.2(FASTKD2):c.-50-77C>A	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 333797	NM_001136193.2(FASTKD2):c.-37C>T	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333798	NM_001136193.2(FASTKD2):c.-30T>C	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 333799	NM_001136193.2(FASTKD2):c.-15A>G	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1943390	NM_001136193.2(FASTKD2):c.8C>A (p.Thr3Lys)	FASTKD2 (T3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054108	NM_001136193.2(FASTKD2):c.21A>C (p.Pro7=)	FASTKD2	Single nucleotide variant (synonymous variant)	FASTKD2-related disorder	GLikely benign
Select item 2200846	NM_001136193.2(FASTKD2):c.29G>A (p.Ser10Asn)	FASTKD2 (S10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137293	NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)	FASTKD2 (S10T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1938075	NM_001136193.2(FASTKD2):c.43A>G (p.Ser15Gly)	FASTKD2 (S15G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333800	NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn)	FASTKD2 (S15N)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GBenign
Select item 2176845	NM_001136193.2(FASTKD2):c.54T>C (p.Asn18=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483179	NM_001136193.2(FASTKD2):c.62C>T (p.Ala21Val)	FASTKD2 (A21V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1547529	NM_001136193.2(FASTKD2):c.63G>A (p.Ala21=)	FASTKD2	Single nucleotide variant (synonymous variant)	FASTKD2-related disorder +1 more	GLikely benign
Select item 2025758	NM_001136193.2(FASTKD2):c.65G>T (p.Gly22Val)	FASTKD2 (G22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377852	NM_001136193.2(FASTKD2):c.66C>T (p.Gly22=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025982	NM_001136193.2(FASTKD2):c.68C>A (p.Ser23Tyr)	FASTKD2 (S23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374694	NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)	FASTKD2 (W26R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1396812	NM_001136193.2(FASTKD2):c.106T>G (p.Ser36Ala)	FASTKD2 (S36A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999924	NM_001136193.2(FASTKD2):c.139G>C (p.Gly47Arg)	FASTKD2 (G47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376842	NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)	FASTKD2 (K50R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2504554	NM_001136193.2(FASTKD2):c.170A>G (p.Asn57Ser)	FASTKD2 (N57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214342	NM_001136193.2(FASTKD2):c.182T>C (p.Leu61Ser)	FASTKD2 (L61S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2828945	NM_001136193.2(FASTKD2):c.192del (p.His65fs)	FASTKD2 (H65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 380292	NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=)	FASTKD2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1988686	NM_001136193.2(FASTKD2):c.193C>T (p.His65Tyr)	FASTKD2 (H65Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058541	NM_001136193.2(FASTKD2):c.197A>G (p.Asn66Ser)	FASTKD2 (N66S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1456591	NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1976146	NM_001136193.2(FASTKD2):c.210A>T (p.Ser70=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511698	NM_001136193.2(FASTKD2):c.211A>C (p.Thr71Pro)	FASTKD2 (T71P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374908	NM_001136193.2(FASTKD2):c.215A>G (p.Asp72Gly)	FASTKD2 (D72G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 333801	NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 289238	NM_001136193.2(FASTKD2):c.234T>G (p.Phe78Leu)	FASTKD2 (F78L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2585214	NM_001136193.2(FASTKD2):c.259G>A (p.Asp87Asn)	FASTKD2 (D87N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 214343	NM_001136193.2(FASTKD2):c.261T>A (p.Asp87Glu)	FASTKD2 (D87E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2441359	NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)	FASTKD2 (G89D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 214344	NM_001136193.2(FASTKD2):c.298G>T (p.Ala100Ser)	FASTKD2 (A100S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 2266616	NM_001136193.2(FASTKD2):c.304A>G (p.Arg102Gly)	FASTKD2 (R102G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2968694	NM_001136193.2(FASTKD2):c.319_323del (p.Leu107fs)	FASTKD2 (L107fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1005350	NM_001136193.2(FASTKD2):c.319C>G (p.Leu107Val)	FASTKD2 (L107V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 377353	NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe)	FASTKD2 (S119F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1027911	NM_001136193.2(FASTKD2):c.452C>T (p.Pro151Leu)	FASTKD2 (P151L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1897290	NM_001136193.2(FASTKD2):c.458G>A (p.Arg153His)	FASTKD2 (R153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575707	NM_001136193.2(FASTKD2):c.461T>C (p.Ile154Thr)	FASTKD2 (I154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419835	NM_001136193.2(FASTKD2):c.478_481del (p.Ser160fs)	FASTKD2 (S160fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2441361	NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)	FASTKD2 (E162K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 895010	NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly)	FASTKD2 (E162G)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2578024	NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)	FASTKD2 (L166fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 44	GLikely pathogenic
Select item 2156436	NM_001136193.2(FASTKD2):c.523A>G (p.Lys175Glu)	FASTKD2 (K175E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234713	NM_001136193.2(FASTKD2):c.526G>T (p.Ala176Ser)	FASTKD2 (A176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 333802	NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val)	FASTKD2 (A176V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2414197	NM_001136193.2(FASTKD2):c.528G>T (p.Ala176=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327293	NM_001136193.2(FASTKD2):c.558A>G (p.Thr186=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1349778	NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys)	FASTKD2 (R201C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 195304	NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His)	FASTKD2 (R201H)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 870460	NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter)	FASTKD2 (R205*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44	GPathogenic
Select item 2474754	NM_001136193.2(FASTKD2):c.614G>A (p.Arg205Gln)	FASTKD2 (R205Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1901280	NM_001136193.2(FASTKD2):c.625A>C (p.Ser209Arg)	FASTKD2 (S209R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954672	NM_001136193.2(FASTKD2):c.636A>C (p.Ala212=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484570	NM_001136193.2(FASTKD2):c.644A>C (p.Gln215Pro)	FASTKD2 (Q215P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1932790	NM_001136193.2(FASTKD2):c.659T>C (p.Met220Thr)	FASTKD2 (M220T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493845	NM_001136193.2(FASTKD2):c.673A>G (p.Lys225Glu)	FASTKD2 (K225E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214350	NM_001136193.2(FASTKD2):c.682C>T (p.Gln228Ter)	FASTKD2 (Q228*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 896448	NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro)	FASTKD2 (Q228P)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 791020	NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His)	FASTKD2 (Q228H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2018808	NM_001136193.2(FASTKD2):c.696A>C (p.Leu232=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924197	NM_001136193.2(FASTKD2):c.706C>T (p.Leu236Phe)	FASTKD2 (L236F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184828	NM_001136193.2(FASTKD2):c.711C>T (p.His237=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896449	NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr)	FASTKD2 (A238T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1903542	NM_001136193.2(FASTKD2):c.714C>A (p.Ala238=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3092982	NM_001136193.2(FASTKD2):c.727G>A (p.Gly243Arg)	FASTKD2 (G243R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258233	NM_001136193.2(FASTKD2):c.745A>C (p.Ile249Leu)	FASTKD2 (I249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 745668	NM_001136193.2(FASTKD2):c.748T>C (p.Leu250=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3047344	NM_001136193.2(FASTKD2):c.753G>A (p.Val251=)	FASTKD2	Single nucleotide variant (synonymous variant)	FASTKD2-related disorder	GLikely benign
Select item 379194	NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GBenign/Likely benign
Select item 870461	NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro)	FASTKD2 (L255P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GPathogenic

<< First< Prev

Page of 5