B3GALT2[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 647462	NC_000001.11:g.(?_193122191)_(193250722_?)del	B3GALT2, CDC73 +2 more	Deletion	Parathyroid carcinoma	GPathogenic
Select item 642042	NC_000001.10:g.(?_193091321)_(193219852_?)dup	B3GALT2, CDC73 +2 more	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 531667	NC_000001.10:g.(?_193110974)_(193219848_?)dup	B3GALT2, CDC73 +1 more	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 1031373	NM_024529.5(CDC73):c.973-23487G>A	B3GALT2, CDC73 (R419C)	Single nucleotide variant (missense variant +1 more)	Hyperparathyroidism 1	GUncertain significance
Select item 2289250	NM_003783.3(B3GALT2):c.1250G>C (p.Arg417Pro)	CDC73, B3GALT2 (R417P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538556	NM_003783.3(B3GALT2):c.1185C>G (p.Asn395Lys)	B3GALT2, CDC73 (N395K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404710	NM_003783.3(B3GALT2):c.1007G>A (p.Arg336His)	B3GALT2, CDC73 (R336H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539543	NM_003783.3(B3GALT2):c.910C>T (p.Pro304Ser)	B3GALT2, CDC73 (P304S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617043	NM_003783.3(B3GALT2):c.879T>A (p.Asp293Glu)	B3GALT2, CDC73 (D293E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374970	NM_003783.3(B3GALT2):c.779A>T (p.Glu260Val)	CDC73, B3GALT2 (E260V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323475	NM_003783.3(B3GALT2):c.607C>T (p.Arg203Cys)	B3GALT2, CDC73 (R203C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530602	NM_003783.3(B3GALT2):c.598T>C (p.Tyr200His)	B3GALT2, CDC73 (Y200H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270748	NM_003783.3(B3GALT2):c.548T>C (p.Ile183Thr)	CDC73, B3GALT2 (I183T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507761	NM_003783.3(B3GALT2):c.403C>T (p.His135Tyr)	B3GALT2, CDC73 (H135Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 226036	NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)	B3GALT2, CDC73 (Y123D)	Single nucleotide variant (missense variant +1 more)	Hyperparathyroidism 2 with jaw tumors	GLikely benign
Select item 2312358	NM_003783.3(B3GALT2):c.349A>C (p.Ser117Arg)	CDC73, B3GALT2 (S117R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327765	NM_003783.3(B3GALT2):c.339G>T (p.Glu113Asp)	B3GALT2, CDC73 (E113D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310721	NM_003783.3(B3GALT2):c.239G>A (p.Arg80Gln)	CDC73, B3GALT2 (R80Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266163	NM_003783.3(B3GALT2):c.194G>A (p.Arg65Gln)	B3GALT2, CDC73 (R65Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426826	NC_000001.10:g.(?_193094232)_(193219842_?)dup	B3GALT2, CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527481	GRCh37/hg19 1q31.2(chr1:192731793-193391298)	B3GALT2, CDC73 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1455935	NC_000001.10:g.(?_193091331)_(193172992_?)del	B3GALT2, CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 832279	NC_000001.11:g.(?_193141840)_(193250722_?)dup	B3GALT2, CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 830660	NC_000001.11:g.(?_193122201)_(193250712_?)dup	B3GALT2, CDC73	Duplication	Parathyroid carcinoma	GUncertain significance
Select item 830490	NC_000001.11:g.(?_193122201)_(193250712_?)del	B3GALT2, CDC73	Deletion	Parathyroid carcinoma	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 441813	GRCh37/hg19 1q31.2(chr1:193107795-193333347)x3	B3GALT2, CDC73	Copy number gain	See cases	GUncertain significance
Select item 395406	GRCh37/hg19 1q31.2(chr1:193148731-193231761)x3	B3GALT2, CDC73	Copy number gain	See cases	GLikely benign

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Items: 45