64581[geneid] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 402543	NM_197947.3(CLEC7A):c.*2A>G	CLEC7A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 718877	NM_197947.3(CLEC7A):c.739A>T (p.Met247Leu)	CLEC7A (M168L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 4466	NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)	CLEC7A (Y238* +2 more)	Single nucleotide variant (nonsense +2 more)	not specified +3 more	GBenign/Likely benign
Select item 2252089	NM_197947.3(CLEC7A):c.704T>C (p.Val235Ala)	CLEC7A (V156A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402752	NM_197947.3(CLEC7A):c.673G>A (p.Val225Met)	CLEC7A (R185H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267707	NM_197947.3(CLEC7A):c.672C>T (p.His224=)	CLEC7A (R139C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 720451	NM_197947.3(CLEC7A):c.668T>G (p.Ile223Ser)	CLEC7A (D137E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3267709	NM_197947.3(CLEC7A):c.554G>A (p.Arg185Gln)	CLEC7A (R106Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 717363	NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe)	CLEC7A (L104F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 1028772	NM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser)	CLEC7A (F133S +2 more)	Single nucleotide variant (missense variant +2 more)	Familial chronic mucocutaneous candidiasis	GUncertain significance
Select item 2207788	NM_197947.3(CLEC7A):c.530A>C (p.Asn177Thr)	CLEC7A (N131T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267710	NM_197947.3(CLEC7A):c.522A>C (p.Gln174His)	CLEC7A (Q128H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3035819	NM_197947.3(CLEC7A):c.493-10T>C	CLEC7A	Single nucleotide variant (intron variant)	CLEC7A-related disorder	GLikely benign
Select item 376808	NM_197947.3(CLEC7A):c.482C>T (p.Ser161Leu)	CLEC7A (S161L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 626087	NM_197947.3(CLEC7A):c.414A>G (p.Leu138=)	CLEC7A	Single nucleotide variant (synonymous variant +1 more)	Familial chronic mucocutaneous candidiasis +1 more	GUncertain significance
Select item 2406224	NM_197947.3(CLEC7A):c.407T>G (p.Met136Arg)	CLEC7A (M90R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789214	NM_197947.3(CLEC7A):c.397C>T (p.Leu133=)	CLEC7A	Single nucleotide variant (synonymous variant +1 more)	Familial chronic mucocutaneous candidiasis +2 more	GBenign/Likely benign
Select item 2392253	NM_197947.3(CLEC7A):c.385A>G (p.Lys129Glu)	CLEC7A (K83E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042662	NM_197947.3(CLEC7A):c.340+9A>G	CLEC7A	Single nucleotide variant (intron variant)	CLEC7A-related disorder	GLikely benign
Select item 2282844	NM_197947.3(CLEC7A):c.304G>C (p.Asp102His)	CLEC7A (D102H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3267708	NM_197947.3(CLEC7A):c.296C>T (p.Ser99Phe)	CLEC7A (S99F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474256	NM_197947.3(CLEC7A):c.268G>A (p.Glu90Lys)	CLEC7A (E90K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400666	NM_197947.3(CLEC7A):c.244G>A (p.Gly82Ser)	CLEC7A (G82S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 743394	NM_197947.3(CLEC7A):c.189C>T (p.Val63=)	CLEC7A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2352510	NM_197947.3(CLEC7A):c.131G>A (p.Arg44His)	CLEC7A (R44H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511820	NM_197947.3(CLEC7A):c.130C>T (p.Arg44Cys)	CLEC7A (R44C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2599501	NM_197947.3(CLEC7A):c.122C>T (p.Pro41Leu)	CLEC7A (P41L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3145722	NM_197947.3(CLEC7A):c.121C>G (p.Pro41Ala)	CLEC7A (P41A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063258	GRCh37/hg19 12p13.2(chr12:10183315-10370767)x3	CLEC1A, CLEC7A +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1808562	GRCh37/hg19 12p13.31-13.2(chr12:10049346-10322120)x3	CLEC12A, CLEC12B +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 979951	GRCh37/hg19 12p13.2(chr12:10204668-10277568)x1	CLEC7A, CLEC9A +1 more	Copy number loss	not provided	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 394044	GRCh37/hg19 12p13.2(chr12:10183511-10373521)x3	CLEC1A, CLEC7A +4 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 64