ClinVar for Gene (Select 9696) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 276

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269601	NM_014675.5(CROCC):c.1214C>T (p.Ala405Val)	CROCC (A405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269600	NM_014675.5(CROCC):c.5389G>A (p.Glu1797Lys)	CROCC (E1797K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269599	NM_014675.5(CROCC):c.3406A>T (p.Arg1136Trp)	CROCC (R1136W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269598	NM_014675.5(CROCC):c.4924G>A (p.Glu1642Lys)	CROCC (E1642K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269597	NM_014675.5(CROCC):c.4943A>G (p.Glu1648Gly)	CROCC (E1648G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269596	NM_014675.5(CROCC):c.6019C>T (p.Pro2007Ser)	CROCC (P2007S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269595	NM_014675.5(CROCC):c.4556G>A (p.Arg1519Gln)	CROCC (R1519Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269594	NM_014675.5(CROCC):c.4925A>T (p.Glu1642Val)	CROCC (E1642V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269593	NM_014675.5(CROCC):c.343A>G (p.Ser115Gly)	CROCC (S115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269591	NM_014675.5(CROCC):c.4118C>G (p.Ala1373Gly)	CROCC (A1373G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269590	NM_014675.5(CROCC):c.23C>T (p.Ala8Val)	CROCC (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269589	NM_014675.5(CROCC):c.3584G>A (p.Arg1195His)	CROCC (R1195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269588	NM_014675.5(CROCC):c.4685A>C (p.Glu1562Ala)	CROCC (E1562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269587	NM_014675.5(CROCC):c.4912C>T (p.Arg1638Trp)	CROCC (R1638W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269586	NM_014675.5(CROCC):c.1925G>A (p.Arg642Gln)	CROCC (R642Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269585	NM_014675.5(CROCC):c.2087G>A (p.Arg696Gln)	CROCC (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269584	NM_014675.5(CROCC):c.2561G>A (p.Arg854Gln)	CROCC (R854Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269583	NM_014675.5(CROCC):c.2122G>A (p.Glu708Lys)	CROCC (E708K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269582	NM_014675.5(CROCC):c.4906G>A (p.Asp1636Asn)	CROCC (D1636N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269580	NM_014675.5(CROCC):c.5236C>T (p.Arg1746Trp)	CROCC (R1746W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269579	NM_014675.5(CROCC):c.2615A>C (p.Glu872Ala)	CROCC (E872A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269578	NM_014675.5(CROCC):c.6005G>A (p.Arg2002Gln)	CROCC (R2002Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269577	NM_014675.5(CROCC):c.1526G>A (p.Arg509Gln)	CROCC (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269576	NM_014675.5(CROCC):c.1732G>A (p.Asp578Asn)	CROCC (D578N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269575	NM_014675.5(CROCC):c.5608C>T (p.Arg1870Trp)	CROCC (R1870W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269574	NM_014675.5(CROCC):c.857A>G (p.Asn286Ser)	CROCC (N286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269573	NM_014675.5(CROCC):c.2074G>A (p.Ala692Thr)	CROCC (A692T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269572	NM_014675.5(CROCC):c.3524G>A (p.Arg1175Gln)	CROCC (R1175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3077617	NM_014675.5(CROCC):c.670G>A (p.Glu224Lys)	CROCC (E224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077616	NM_014675.5(CROCC):c.584T>G (p.Leu195Arg)	CROCC (L195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077615	NM_014675.5(CROCC):c.5469G>T (p.Gln1823His)	CROCC (Q1823H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077613	NM_014675.5(CROCC):c.5446C>T (p.Arg1816Trp)	CROCC (R1816W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077612	NM_014675.5(CROCC):c.5174G>A (p.Arg1725Gln)	CROCC (R1725Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077611	NM_014675.5(CROCC):c.4736C>T (p.Ala1579Val)	CROCC (A1579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077610	NM_014675.5(CROCC):c.466C>T (p.Arg156Trp)	CROCC (R156W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077609	NM_014675.5(CROCC):c.4609C>T (p.Arg1537Cys)	CROCC (R1537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077608	NM_014675.5(CROCC):c.4387C>T (p.Arg1463Trp)	CROCC, LOC129929537 (R1463W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077607	NM_014675.5(CROCC):c.4330C>T (p.Leu1444Phe)	CROCC, LOC129929537 (L1444F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077606	NM_014675.5(CROCC):c.4286C>T (p.Ala1429Val)	CROCC, LOC129929537 (A1429V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077605	NM_014675.5(CROCC):c.4146C>G (p.Asp1382Glu)	CROCC (D1382E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077604	NM_014675.5(CROCC):c.4049G>A (p.Arg1350Gln)	CROCC (R1350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077603	NM_014675.5(CROCC):c.4037A>G (p.Gln1346Arg)	CROCC (Q1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077602	NM_014675.5(CROCC):c.3944G>A (p.Arg1315Gln)	CROCC (R1315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077601	NM_014675.5(CROCC):c.3853C>T (p.Leu1285Phe)	CROCC (L1285F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077600	NM_014675.5(CROCC):c.356A>G (p.Glu119Gly)	CROCC (E119G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077599	NM_014675.5(CROCC):c.3553C>T (p.Arg1185Cys)	CROCC (R1185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077598	NM_014675.5(CROCC):c.3508C>T (p.Arg1170Cys)	CROCC (R1170C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077597	NM_014675.5(CROCC):c.3320G>A (p.Arg1107Gln)	CROCC (R1107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077596	NM_014675.5(CROCC):c.3151G>C (p.Glu1051Gln)	CROCC (E1051Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077594	NM_014675.5(CROCC):c.3109G>C (p.Glu1037Gln)	CROCC (E1037Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077593	NM_014675.5(CROCC):c.275G>A (p.Arg92His)	CROCC (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077592	NM_014675.5(CROCC):c.2753G>A (p.Arg918Gln)	CROCC (R918Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077591	NM_014675.5(CROCC):c.2597G>A (p.Arg866Gln)	CROCC (R866Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077589	NM_014675.5(CROCC):c.2555A>G (p.Gln852Arg)	CROCC (Q852R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077588	NM_014675.5(CROCC):c.2401C>T (p.Arg801Trp)	CROCC (R801W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077587	NM_014675.5(CROCC):c.2365C>T (p.Arg789Trp)	CROCC (R789W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077586	NM_014675.5(CROCC):c.2315G>A (p.Arg772Gln)	CROCC (R772Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077585	NM_014675.5(CROCC):c.2149C>T (p.Arg717Cys)	CROCC (R717C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077584	NM_014675.5(CROCC):c.2053G>A (p.Val685Met)	CROCC (V685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077582	NM_014675.5(CROCC):c.1997G>T (p.Arg666Ile)	CROCC (R666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077581	NM_014675.5(CROCC):c.1855G>T (p.Ala619Ser)	CROCC (A619S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077579	NM_014675.5(CROCC):c.169C>T (p.Arg57Cys)	CROCC (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077578	NM_014675.5(CROCC):c.1571T>C (p.Ile524Thr)	CROCC (I524T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077576	NM_014675.5(CROCC):c.1412G>C (p.Ser471Thr)	CROCC (S471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077575	NM_014675.5(CROCC):c.1363G>A (p.Asp455Asn)	CROCC (D455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077574	NM_014675.5(CROCC):c.1165G>A (p.Asp389Asn)	CROCC (D389N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3067232	NM_014675.5(CROCC):c.1113G>C (p.Leu371=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3025800	NM_014675.5(CROCC):c.1290+8G>T	CROCC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672325	NM_014675.5(CROCC):c.1463C>T (p.Ser488Leu)	CROCC (S488L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638386	NM_014675.5(CROCC):c.5904T>C (p.Thr1968=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638385	NM_014675.5(CROCC):c.5856G>A (p.Leu1952=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638384	NM_014675.5(CROCC):c.5496C>T (p.Thr1832=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638383	NM_014675.5(CROCC):c.5337G>C (p.Glu1779Asp)	CROCC (E1779D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638382	NM_014675.5(CROCC):c.5237G>A (p.Arg1746Gln)	CROCC (R1746Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638381	NM_014675.5(CROCC):c.4986G>A (p.Glu1662=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638380	NM_014675.5(CROCC):c.4653G>A (p.Ser1551=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638379	NM_014675.5(CROCC):c.4587G>A (p.Arg1529=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638378	NM_014675.5(CROCC):c.4580A>C (p.Glu1527Ala)	CROCC (E1527A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638377	NM_014675.5(CROCC):c.4578C>T (p.Asp1526=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638376	NM_014675.5(CROCC):c.2536C>A (p.Arg846=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638375	NM_014675.5(CROCC):c.2304C>T (p.Ala768=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638374	NM_014675.5(CROCC):c.1947C>T (p.Asp649=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638373	NM_014675.5(CROCC):c.1734C>T (p.Asp578=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638372	NM_014675.5(CROCC):c.1131C>T (p.Arg377=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638371	NM_014675.5(CROCC):c.1032G>A (p.Thr344=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638370	NM_014675.5(CROCC):c.1014G>A (p.Ala338=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638369	NM_014675.5(CROCC):c.831G>A (p.Ala277=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638368	NM_014675.5(CROCC):c.819C>G (p.His273Gln)	CROCC (H273Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2638367	NM_014675.5(CROCC):c.614G>A (p.Arg205Gln)	CROCC (R205Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638366	NM_014675.5(CROCC):c.564G>A (p.Ser188=)	CROCC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638365	NM_014675.5(CROCC):c.538-4C>A	CROCC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2623063	NM_014675.5(CROCC):c.1486C>G (p.Pro496Ala)	CROCC (P496A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619231	NM_014675.5(CROCC):c.4093C>T (p.Arg1365Cys)	CROCC (R1365C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609906	NM_014675.5(CROCC):c.4760G>A (p.Ser1587Asn)	CROCC (S1587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602360	NM_014675.5(CROCC):c.4973G>A (p.Arg1658Gln)	CROCC (R1658Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597176	NM_014675.5(CROCC):c.2855G>A (p.Arg952Gln)	CROCC (R952Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3