ClinVar for Gene (Select 1056) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237401	NM_001807.6(CEL):c.382G>A (p.Ala128Thr)	CEL (A128T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 3234784	NM_001807.6(CEL):c.2241G>A (p.Met747Ile)	CEL (M747I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234338	NM_001807.6(CEL):c.1770C>T (p.Ala590=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234312	NM_001807.6(CEL):c.1776C>T (p.Pro592=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234276	NM_001807.6(CEL):c.1764C>T (p.Ser588=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234122	NM_001807.6(CEL):c.2166C>T (p.Ala722=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234121	NM_001807.6(CEL):c.2160C>T (p.Ser720=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141902	NM_001807.6(CEL):c.973G>A (p.Ala325Thr)	CEL (A325T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141901	NM_001807.6(CEL):c.874G>T (p.Val292Leu)	CEL (V292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3141900	NM_001807.6(CEL):c.496G>A (p.Gly166Ser)	CEL (G166S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141899	NM_001807.6(CEL):c.265A>G (p.Ile89Val)	CEL (I89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141897	NM_001807.6(CEL):c.2041G>A (p.Val681Met)	CEL (V681M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141896	NM_001807.6(CEL):c.2035C>T (p.Pro679Ser)	CEL (P679S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141895	NM_001807.6(CEL):c.1802C>G (p.Ala601Gly)	CEL (A601G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141894	NM_001807.6(CEL):c.1795T>G (p.Ser599Ala)	CEL (S599A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141893	NM_001807.6(CEL):c.1742C>A (p.Pro581His)	CEL (P581H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141892	NM_001807.6(CEL):c.1658C>T (p.Thr553Ile)	CEL (T553I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141891	NM_001807.6(CEL):c.1351G>C (p.Val451Leu)	CEL (V451L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141890	NM_001807.6(CEL):c.1244T>G (p.Val415Gly)	CEL (V415G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067370	NM_001807.6(CEL):c.1830C>T (p.Ser610=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067287	NM_001807.6(CEL):c.1929C>T (p.Ser643=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3050766	NM_001807.6(CEL):c.439G>A (p.Gly147Ser)	CEL (G147S)	Single nucleotide variant (missense variant)	CEL-related disorder	GUncertain significance
Select item 3025812	NM_001807.6(CEL):c.1842C>T (p.Pro614=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025343	NM_001807.6(CEL):c.2013G>C (p.Pro671=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024911	NM_001807.6(CEL):c.2151G>A (p.Thr717=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921142	NM_001807.6(CEL):c.526G>A (p.Ala176Thr)	CEL (A176T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2921090	NM_001807.6(CEL):c.203A>T (p.His68Leu)	CEL (H68L)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2688760	NM_001807.6(CEL):c.2123A>T (p.Asp708Val)	CEL (D708V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2673201	NM_001807.6(CEL):c.1749G>C (p.Pro583=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673200	NM_001807.6(CEL):c.1725T>G (p.Gly575=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673199	NM_001807.6(CEL):c.1707T>C (p.Thr569=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2673198	NM_001807.6(CEL):c.1413G>A (p.Thr471=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2665071	NM_001807.6(CEL):c.341-83C>T	CEL	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2663460	NM_001807.6(CEL):c.1412C>A (p.Thr471Lys)	CEL (T471K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659687	NM_001807.6(CEL):c.2178C>G (p.Pro726=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659686	NM_001807.6(CEL):c.2172T>C (p.Pro724=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659685	NM_001807.6(CEL):c.2163G>C (p.Gly721=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659684	NM_001807.6(CEL):c.2097G>C (p.Gly699=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659683	NM_001807.6(CEL):c.2106_2171del (p.Thr704_Val725del)	CEL	Deletion (inframe_deletion)	not provided	GBenign
Select item 2659682	NM_001807.6(CEL):c.2046G>C (p.Pro682=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659681	NM_001807.6(CEL):c.2031G>C (p.Gly677=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659680	NM_001807.6(CEL):c.1965G>C (p.Gly655=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659679	NM_001807.6(CEL):c.1938C>T (p.Pro646=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659678	NM_001807.6(CEL):c.1914G>C (p.Pro638=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659677	NM_001807.6(CEL):c.1908C>T (p.Pro636=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659676	NM_001807.6(CEL):c.1905C>T (p.Pro635=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659675	NM_001807.6(CEL):c.1899G>C (p.Gly633=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659674	NM_001807.6(CEL):c.1881G>C (p.Pro627=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659673	NM_001807.6(CEL):c.1872C>T (p.Pro624=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659672	NM_001807.6(CEL):c.1839C>T (p.Pro613=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659671	NM_001807.6(CEL):c.1809C>T (p.Pro603=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659670	NM_001807.6(CEL):c.1806C>T (p.Pro602=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659669	NM_001807.6(CEL):c.1782G>C (p.Pro594=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659668	NM_001807.6(CEL):c.1594C>T (p.Arg532Trp)	CEL (R532W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659667	NM_001807.6(CEL):c.1231G>A (p.Val411Ile)	CEL (V411I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2659666	NM_001807.6(CEL):c.1137C>T (p.Gly379=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659665	NM_001807.6(CEL):c.972C>T (p.Tyr324=)	CEL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659664	NM_001807.6(CEL):c.340G>A (p.Val114Ile)	CEL (V114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659663	NC_000009.12:g.133060938C>T	CEL	Single nucleotide variant	not provided	GLikely benign
Select item 2659662	NC_000009.12:g.133060642T>C	CEL	Single nucleotide variant	not provided	GBenign
Select item 2619332	NM_001807.6(CEL):c.893A>C (p.Glu298Ala)	CEL (E298A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618419	NM_001807.6(CEL):c.1850C>A (p.Pro617His)	CEL (P617H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584560	NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)	CEL (T471fs)	Indel (frameshift variant)	Maturity-onset diabetes of the young type 8 +1 more	GConflicting classifications of pathogenicity
Select item 2583072	NM_001807.6(CEL):c.1642G>A (p.Ala548Thr)	CEL (A548T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2582711	NM_001807.6(CEL):c.277A>C (p.Ser93Arg)	CEL (S93R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2570398	NM_001807.6(CEL):c.1379A>G (p.Gln460Arg)	CEL (Q460R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556337	NM_001807.6(CEL):c.85G>A (p.Glu29Lys)	CEL (E29K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535717	NM_001807.6(CEL):c.2130G>T (p.Glu710Asp)	CEL (E710D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525914	NM_001807.6(CEL):c.451G>A (p.Ala151Thr)	CEL (A151T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506629	NM_001807.6(CEL):c.626C>T (p.Thr209Met)	CEL (T209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502160	NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)	CEL (Q476R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 8 +1 more	GConflicting classifications of pathogenicity
Select item 2484467	NM_001807.6(CEL):c.1706C>T (p.Thr569Ile)	CEL (T569I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456712	NM_001807.6(CEL):c.73G>A (p.Ala25Thr)	CEL (A25T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443092	NM_001807.6(CEL):c.723C>T (p.Gly241=)	CEL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2439894	NM_001807.6(CEL):c.497del (p.Gly166fs)	CEL (G166fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GUncertain significance
Select item 2438974	NM_001807.6(CEL):c.1875del (p.Val626fs)	CEL (V626fs)	Deletion (frameshift variant)	Maturity-onset diabetes of the young type 8	GLikely pathogenic
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2425485	NC_000009.11:g.(?_133884602)_(135942612_?)dup	AIF1L, AK8 +21 more	Duplication	not provided	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy 5 +4 more	GUncertain significance
Select item 2410353	NM_001807.6(CEL):c.1624T>C (p.Trp542Arg)	CEL (W542R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395331	NM_001807.6(CEL):c.1747C>A (p.Pro583Thr)	CEL (P583T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391783	NM_001807.6(CEL):c.2164G>A (p.Ala722Thr)	CEL (A722T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391782	NM_001807.6(CEL):c.2162G>A (p.Gly721Glu)	CEL (G721E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2351360	NM_001807.6(CEL):c.1145C>T (p.Thr382Met)	CEL (T382M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351299	NM_001807.6(CEL):c.1810G>A (p.Val604Met)	CEL (V604M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343258	NM_001807.6(CEL):c.1835C>G (p.Ala612Gly)	CEL (A612G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322130	NM_001807.6(CEL):c.2128G>A (p.Glu710Lys)	CEL (E710K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310066	NM_001807.6(CEL):c.883G>T (p.Ala295Ser)	CEL (A295S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307105	NM_001807.6(CEL):c.1039A>G (p.Ile347Val)	CEL (I347V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305541	NM_001807.6(CEL):c.781G>T (p.Ala261Ser)	CEL (A261S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299925	NM_001807.6(CEL):c.769G>C (p.Ala257Pro)	CEL (A257P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298997	NM_001807.6(CEL):c.1283C>T (p.Ala428Val)	CEL (A428V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297511	NM_001807.6(CEL):c.1367C>G (p.Ala456Gly)	CEL (A456G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297510	NM_001807.6(CEL):c.1366G>A (p.Ala456Thr)	CEL (A456T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290321	NM_001807.6(CEL):c.957C>A (p.Asp319Glu)	CEL (D319E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280579	NM_001807.6(CEL):c.1734G>C (p.Glu578Asp)	CEL (E578D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272038	NM_001807.6(CEL):c.1643C>A (p.Ala548Glu)	CEL (A548E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244624	NM_001807.6(CEL):c.471C>G (p.Ile157Met)	CEL (I157M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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