ClinVar for Gene (Select 1399) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353120	NM_005207.4(CRKL):c.39C>T (p.Ala13=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	CRKL-related disorder	GLikely benign
Select item 3350302	NM_005207.4(CRKL):c.353T>G (p.Leu118Arg)	CRKL (L118R)	Single nucleotide variant (missense variant +1 more)	CRKL-related disorder	GUncertain significance
Select item 3248107	NC_000022.10:g.(?_21288047)_(21288552_?)del	CRKL	Deletion	not provided	GUncertain significance
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242285	GRCh37/hg19 22q11.21(chr22:20730747-21465668)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148918	GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3148900	GRCh37/hg19 22q11.21(chr22:20730144-21464764)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GUncertain significance
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3148843	GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GUncertain significance
Select item 3077524	NM_005207.4(CRKL):c.103A>G (p.Met35Val)	CRKL (M35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047831	NM_005207.4(CRKL):c.621C>T (p.Tyr207=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	CRKL-related disorder	GLikely benign
Select item 3024620	GRCh37/hg19 22q11.21(chr22:21061979-21418457)x3	AIFM3, SNAP29 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2995265	NM_005207.4(CRKL):c.27G>A (p.Ser9=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981872	NM_005207.4(CRKL):c.311+6C>T	CRKL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2903897	NM_005207.4(CRKL):c.532G>A (p.Val178Ile)	CRKL (V178I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2893990	NM_005207.4(CRKL):c.660C>T (p.Ser220=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2764717	NM_005207.4(CRKL):c.289A>G (p.Thr97Ala)	CRKL (T97A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	CLTCL1, COMT +46 more	Copy number loss	not provided	GPathogenic
Select item 2672897	NM_005207.4(CRKL):c.79del (p.Arg27fs)	CRKL (R27fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652924	NM_005207.4(CRKL):c.311+2T>C	CRKL	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580299	GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1	AIFM3, CRKL +14 more	Copy number loss	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2558001	NM_005207.4(CRKL):c.337G>A (p.Val113Ile)	CRKL (V113I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540240	NM_005207.4(CRKL):c.841G>A (p.Gly281Arg)	CRKL (G281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2499638	GRCh38/hg38 22q11.21(chr22:20354589-21405291)	AIFM3, CRKL +72 more	Copy number loss	22q11.2 central deletion syndrome	GUncertain significance
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2015209	NM_005207.4(CRKL):c.143_144del (p.Tyr48fs)	CRKL, LOC130067011 (Y48fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1996769	NM_005207.4(CRKL):c.126C>T (p.Ser42=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940607	NM_005207.4(CRKL):c.506G>A (p.Arg169Gln)	CRKL (R169Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1907994	NM_005207.4(CRKL):c.90C>T (p.Gly30=)	CRKL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896738	NM_005207.4(CRKL):c.677C>T (p.Ala226Val)	CRKL (A226V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	GP1BB, SCARF2 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	TXNRD2, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1810318	GRCh37/hg19 22q11.21(chr22:21119425-21431174)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	Gnot provided
Select item 1808868	GRCh37/hg19 22q11.21(chr22:21062134-21465662)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808742	GRCh37/hg19 22q11.21(chr22:20716877-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808690	GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808672	GRCh37/hg19 22q11.21(chr22:21049800-21465662)x1	AIFM3, CRKL +7 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808611	GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1	AIFM3, CRKL +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808607	GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	AIFM3, CCDC116 +23 more	Copy number gain	not provided	GPathogenic
Select item 1808461	GRCh37/hg19 22q11.21(chr22:21059670-21286988)x3	CRKL, PI4KA +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807784	GRCh37/hg19 22q11.21(chr22:21092648-21465662)x1	AIFM3, CRKL +7 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807748	GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1	P2RX6, RIMBP3B +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807721	GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807715	GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1	AIFM3, CRKL +15 more	Copy number loss	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	AIFM3, ARVCF +45 more	Copy number gain	not provided	GPathogenic
Select item 1710921	GRCh37/hg19 22q11.21(chr22:20725308-21465659)x1	AIFM3, CRKL +12 more	Copy number loss	See cases	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708461	GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1	HIC2, KLHL22 +14 more	Copy number loss	See cases	GPathogenic
Select item 1708268	GRCh37/hg19 22q11.21(chr22:20732808-21465659)x1	AIFM3, CRKL +11 more	Copy number loss	See cases	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1707429	GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1	AIFM3, CRKL +19 more	Copy number loss	See cases	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703646	GRCh37/hg19 22q11.21(chr22:20732808-21465659)	AIFM3, CRKL +11 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GLikely pathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	LOC108510655, LOC110120888 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC130066968, LOC130066969 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	RTL10, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1696679	Single allele	AIFM3, CRKL +36 more	Duplication	not provided	GUncertain significance
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic
Select item 1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1634921	NM_005207.4(CRKL):c.778-20T>C	CRKL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1494353	NM_005207.4(CRKL):c.788T>C (p.Ile263Thr)	CRKL (I263T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430756	NC_000022.10:g.(?_18900688)_(21351637_?)dup	CDC45, CLDN5 +41 more	Duplication	DiGeorge syndrome	GUncertain significance
Select item 1340618	GRCh37/hg19 22q11.21(chr22:20717655-21465662)x3	AIFM3, CRKL +12 more	Copy number gain	not provided	GUncertain significance
Select item 1340542	GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1	AIFM3, CRKL +18 more	Copy number loss	not provided	GPathogenic
Select item 1340537	GRCh37/hg19 22q11.21(chr22:21059670-21465659)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance
Select item 1340455	GRCh37/hg19 22q11.21(chr22:21033398-21465659)x3	AIFM3, CRKL +7 more	Copy number gain	not provided	GUncertain significance

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