ClinVar for Gene (Select 22868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380961	NM_001136193.2(FASTKD2):c.503del (p.Asp168fs)	FASTKD2 (D168fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3379416	NM_001136193.2(FASTKD2):c.583C>G (p.Leu195Val)	FASTKD2 (L195V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379415	NM_001136193.2(FASTKD2):c.53A>G (p.Asn18Ser)	FASTKD2 (N18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373296	NM_001136193.2(FASTKD2):c.1577G>A (p.Ser526Asn)	FASTKD2 (S526N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371667	NM_001136193.2(FASTKD2):c.830T>C (p.Leu277Ser)	FASTKD2, LOC126806484 (L277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371403	NM_001136193.2(FASTKD2):c.171C>G (p.Asn57Lys)	FASTKD2 (N57K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368374	NM_001136193.2(FASTKD2):c.1280A>G (p.Glu427Gly)	FASTKD2 (E427G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3277755	NM_001136193.2(FASTKD2):c.1822A>C (p.Ile608Leu)	FASTKD2 (I608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277754	NM_001136193.2(FASTKD2):c.2081A>G (p.Tyr694Cys)	FASTKD2 (Y694C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277753	NM_001136193.2(FASTKD2):c.680T>C (p.Met227Thr)	FASTKD2 (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277751	NM_001136193.2(FASTKD2):c.718G>A (p.Val240Met)	FASTKD2 (V240M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277750	NM_001136193.2(FASTKD2):c.1877C>T (p.Thr626Ile)	FASTKD2 (T626I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277749	NM_001136193.2(FASTKD2):c.1630G>C (p.Asp544His)	FASTKD2 (D544H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247551	NC_000002.11:g.(?_207631418)_(207656526_?)dup	FASTKD2	Duplication	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 3233943	NM_001136193.2(FASTKD2):c.1644_1647del (p.Leu549fs)	FASTKD2 (L549fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 44	GPathogenic
Select item 3092984	NM_001136193.2(FASTKD2):c.896A>G (p.Gln299Arg)	FASTKD2 (Q299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092983	NM_001136193.2(FASTKD2):c.840G>A (p.Met280Ile)	FASTKD2, LOC126806484 (M280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3092981	NM_001136193.2(FASTKD2):c.2102T>C (p.Val701Ala)	FASTKD2 (V701A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092980	NM_001136193.2(FASTKD2):c.1553A>G (p.Gln518Arg)	FASTKD2 (Q518R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092979	NM_001136193.2(FASTKD2):c.1535C>T (p.Pro512Leu)	FASTKD2 (P512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092978	NM_001136193.2(FASTKD2):c.1496T>C (p.Leu499Ser)	FASTKD2 (L499S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3092976	NM_001136193.2(FASTKD2):c.1139G>A (p.Arg380Lys)	FASTKD2 (R380K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
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 3049610	NM_001136193.2(FASTKD2):c.1371A>G (p.Leu457=)	FASTKD2	Single nucleotide variant (synonymous variant)	FASTKD2-related disorder	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 3035413	NM_001136193.2(FASTKD2):c.777+7dup	FASTKD2	Duplication (intron variant)	FASTKD2-related disorder	GLikely benign
Select item 3023075	NM_001136193.2(FASTKD2):c.1495T>C (p.Leu499=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014682	NM_001136193.2(FASTKD2):c.1360A>G (p.Lys454Glu)	FASTKD2 (K454E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988441	NM_001136193.2(FASTKD2):c.990+20C>T	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968694	NM_001136193.2(FASTKD2):c.319_323del (p.Leu107fs)	FASTKD2 (L107fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2913429	NM_001136193.2(FASTKD2):c.900A>G (p.Gln300=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828945	NM_001136193.2(FASTKD2):c.192del (p.His65fs)	FASTKD2 (H65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2790771	NM_001136193.2(FASTKD2):c.2013+20G>A	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786780	NM_001136193.2(FASTKD2):c.1427+11_1427+13del	FASTKD2	Deletion (intron variant)	not provided	GLikely benign
Select item 2771454	NM_001136193.2(FASTKD2):c.1595-17T>C	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764942	NM_001136193.2(FASTKD2):c.2013+19T>G	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762602	NM_001136193.2(FASTKD2):c.2007G>C (p.Val669=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2724172	NM_001136193.2(FASTKD2):c.1198T>C (p.Phe400Leu)	FASTKD2 (F400L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694115	NM_001136193.2(FASTKD2):c.2014-16C>T	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689047	NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2651846	NM_001136193.2(FASTKD2):c.963A>G (p.Ala321=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604723	NM_001136193.2(FASTKD2):c.1726G>C (p.Ala576Pro)	FASTKD2 (A576P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604610	NM_001136193.2(FASTKD2):c.2090A>C (p.Glu697Ala)	FASTKD2 (E697A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
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 2575707	NM_001136193.2(FASTKD2):c.461T>C (p.Ile154Thr)	FASTKD2 (I154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2553588	NM_001136193.2(FASTKD2):c.1172A>T (p.Asp391Val)	FASTKD2 (D391V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550960	NM_001136193.2(FASTKD2):c.1065G>A (p.Met355Ile)	FASTKD2 (M355I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550166	NM_001136193.2(FASTKD2):c.1400A>G (p.Asn467Ser)	FASTKD2 (N467S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524658	NM_001136193.2(FASTKD2):c.1037A>G (p.Gln346Arg)	FASTKD2 (Q346R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505015	NM_001136193.2(FASTKD2):c.782G>C (p.Arg261Pro)	FASTKD2, LOC126806484 (R261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2504453	NM_001136193.2(FASTKD2):c.1697C>T (p.Pro566Leu)	FASTKD2 (P566L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502585	NM_001136193.2(FASTKD2):c.1595-12_1595-11del	FASTKD2	Deletion (intron variant)	not provided	GLikely benign
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 2484570	NM_001136193.2(FASTKD2):c.644A>C (p.Gln215Pro)	FASTKD2 (Q215P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480844	NM_001136193.2(FASTKD2):c.838A>G (p.Met280Val)	LOC126806484, FASTKD2 (M280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2442569	NM_001136193.2(FASTKD2):c.1575C>G (p.Ile525Met)	FASTKD2 (I525M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441918	NM_001136193.2(FASTKD2):c.1796C>T (p.Pro599Leu)	FASTKD2 (P599L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
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 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 2426004	NC_000002.11:g.(?_207652641)_(207656526_?)del	FASTKD2	Deletion	not provided	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 2374908	NM_001136193.2(FASTKD2):c.215A>G (p.Asp72Gly)	FASTKD2 (D72G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337553	NM_001136193.2(FASTKD2):c.1028T>C (p.Leu343Ser)	FASTKD2 (L343S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334014	NM_001136193.2(FASTKD2):c.2034C>A (p.Asp678Glu)	FASTKD2 (D678E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2258233	NM_001136193.2(FASTKD2):c.745A>C (p.Ile249Leu)	FASTKD2 (I249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230746	NM_001136193.2(FASTKD2):c.990+3A>G	FASTKD2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2227497	NM_001136193.2(FASTKD2):c.1490A>G (p.Asn497Ser)	FASTKD2 (N497S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2184828	NM_001136193.2(FASTKD2):c.711C>T (p.His237=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176845	NM_001136193.2(FASTKD2):c.54T>C (p.Asn18=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174570	NM_001136193.2(FASTKD2):c.1905T>C (p.Ala635=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163300	NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys)	FASTKD2, LOC126806484 (R261C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2143596	NM_001136193.2(FASTKD2):c.1563A>G (p.Gln521=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136212	NM_001136193.2(FASTKD2):c.1691A>G (p.Gln564Arg)	FASTKD2 (Q564R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126534	NM_001136193.2(FASTKD2):c.1255G>T (p.Val419Phe)	FASTKD2 (V419F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114374	NM_001136193.2(FASTKD2):c.1734G>C (p.Val578=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2053653	NM_001136193.2(FASTKD2):c.882-11T>C	FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051065	NM_001136193.2(FASTKD2):c.1834A>G (p.Thr612Ala)	FASTKD2 (T612A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050822	NM_001136193.2(FASTKD2):c.1207C>G (p.Leu403Val)	FASTKD2 (L403V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2038188	NM_001136193.2(FASTKD2):c.860A>C (p.His287Pro)	FASTKD2, LOC126806484 (H287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036059	NM_001136193.2(FASTKD2):c.1104G>C (p.Lys368Asn)	FASTKD2 (K368N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2025758	NM_001136193.2(FASTKD2):c.65G>T (p.Gly22Val)	FASTKD2 (G22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024154	NM_001136193.2(FASTKD2):c.1965T>G (p.Leu655=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018808	NM_001136193.2(FASTKD2):c.696A>C (p.Leu232=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012988	NM_001136193.2(FASTKD2):c.1687C>G (p.Pro563Ala)	FASTKD2 (P563A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004947	NM_001136193.2(FASTKD2):c.1388dup (p.Tyr463Ter)	FASTKD2 (Y463*)	Duplication (nonsense)	not provided	GPathogenic
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 1995891	NM_001136193.2(FASTKD2):c.1607A>G (p.Asn536Ser)	FASTKD2 (N536S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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