15945[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 3141937	NM_007352.4(CELA3B):c.8T>C (p.Leu3Pro)	CELA3B (L3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608555	NM_007352.4(CELA3B):c.10C>G (p.Arg4Gly)	CELA3B (R4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211171	NM_007352.4(CELA3B):c.11G>A (p.Arg4Gln)	CELA3B (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638467	NM_007352.4(CELA3B):c.91A>C (p.Asn31His)	CELA3B (N31H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2266874	NM_007352.4(CELA3B):c.92A>G (p.Asn31Ser)	CELA3B (N31S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774391	NM_007352.4(CELA3B):c.189C>T (p.Ile63=)	CELA3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2340618	NM_007352.4(CELA3B):c.214G>A (p.Gly72Ser)	CELA3B (G72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141933	NM_007352.4(CELA3B):c.239C>A (p.Thr80Asn)	CELA3B (T80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253580	NM_007352.4(CELA3B):c.239C>T (p.Thr80Ile)	CELA3B (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 804281	NM_007352.4(CELA3B):c.268C>T (p.Arg90Cys)	CELA3B (R90C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2548962	NM_007352.4(CELA3B):c.299T>C (p.Ile100Thr)	CELA3B (I100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265716	NM_007352.4(CELA3B):c.302C>G (p.Pro101Arg)	CELA3B (P101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265719	NM_007352.4(CELA3B):c.313G>T (p.Gly105Trp)	CELA3B (G105W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141934	NM_007352.4(CELA3B):c.314G>A (p.Gly105Glu)	CELA3B (G105E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392829	NM_007352.4(CELA3B):c.347C>T (p.Ser116Leu)	CELA3B (S116L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265717	NM_007352.4(CELA3B):c.359G>C (p.Cys120Ser)	CELA3B (C120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719065	NM_007352.4(CELA3B):c.391C>T (p.Arg131Cys)	CELA3B (R131C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024906	NM_007352.4(CELA3B):c.411C>T (p.Asp137=)	CELA3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212234	NM_007352.4(CELA3B):c.505G>A (p.Gly169Arg)	CELA3B (G169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521538	NM_007352.4(CELA3B):c.577T>C (p.Trp193Arg)	CELA3B (W193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245495	NM_007352.4(CELA3B):c.607G>A (p.Val203Met)	CELA3B (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288450	NM_007352.4(CELA3B):c.622G>T (p.Asp208Tyr)	CELA3B (D208Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372597	NM_007352.4(CELA3B):c.706A>C (p.Thr236Pro)	CELA3B (T236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141935	NM_007352.4(CELA3B):c.731G>A (p.Cys244Tyr)	CELA3B (C244Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265718	NM_007352.4(CELA3B):c.779T>C (p.Ile260Thr)	CELA3B (I260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604834	NM_007352.4(CELA3B):c.781G>A (p.Asp261Asn)	CELA3B (D261N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462105	NM_007352.4(CELA3B):c.790G>C (p.Glu264Gln)	CELA3B (E264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141936	NM_007352.4(CELA3B):c.802G>A (p.Ala268Thr)	CELA3B (A268T)	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 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394413	GRCh37/hg19 1p36.12(chr1:22303497-22329511)x3	CELA3A, CELA3B	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 43