B4GALNT2[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2647886	NM_001159387.2(B4GALNT2):c.12C>A (p.Gly4=)	B4GALNT2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3132647	NM_001159387.2(B4GALNT2):c.14+245G>A	B4GALNT2 (G9E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304280	NM_001159387.2(B4GALNT2):c.14+278G>A	B4GALNT2 (R20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132655	NM_001159387.2(B4GALNT2):c.14+296C>T	B4GALNT2 (T26M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358717	NM_001159387.2(B4GALNT2):c.14+320G>C	B4GALNT2 (G34A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 2529152	NM_001159387.2(B4GALNT2):c.49A>C (p.Ile17Leu)	B4GALNT2 (I17L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461334	NM_001159387.2(B4GALNT2):c.71T>C (p.Val24Ala)	B4GALNT2 (V24A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132648	NM_001159387.2(B4GALNT2):c.127G>C (p.Glu43Gln)	B4GALNT2 (E103Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132650	NM_001159387.2(B4GALNT2):c.134C>G (p.Pro45Arg)	B4GALNT2 (P19R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132651	NM_001159387.2(B4GALNT2):c.152T>C (p.Val51Ala)	B4GALNT2 (V25A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295101	NM_001159387.2(B4GALNT2):c.182G>A (p.Arg61His)	B4GALNT2 (R121H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330500	NM_001159387.2(B4GALNT2):c.252C>A (p.Asn84Lys)	B4GALNT2 (N58K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227094	NM_001159387.2(B4GALNT2):c.323G>T (p.Arg108Ile)	B4GALNT2 (R168I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288260	NM_001159387.2(B4GALNT2):c.325C>G (p.Gln109Glu)	B4GALNT2 (Q169E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590983	NM_001159387.2(B4GALNT2):c.347A>G (p.Gln116Arg)	B4GALNT2 (Q116R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132652	NM_001159387.2(B4GALNT2):c.446C>T (p.Thr149Met)	B4GALNT2 (T123M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132653	NM_001159387.2(B4GALNT2):c.485C>T (p.Ala162Val)	B4GALNT2 (A162V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487796	NM_001159387.2(B4GALNT2):c.583C>G (p.Leu195Val)	B4GALNT2 (L195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389073	NM_001159387.2(B4GALNT2):c.632A>G (p.His211Arg)	B4GALNT2 (H185R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523697	NM_001159387.2(B4GALNT2):c.677T>C (p.Ile226Thr)	B4GALNT2 (I200T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263649	NM_001159387.2(B4GALNT2):c.736G>C (p.Val246Leu)	B4GALNT2 (V246L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552695	NM_001159387.2(B4GALNT2):c.743C>G (p.Pro248Arg)	B4GALNT2 (P248R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491593	NM_001159387.2(B4GALNT2):c.891C>G (p.Asp297Glu)	B4GALNT2 (D297E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279672	NM_001159387.2(B4GALNT2):c.954+5G>A	B4GALNT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132638	NM_001159387.2(B4GALNT2):c.1014G>T (p.Trp338Cys)	B4GALNT2 (W338C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132639	NM_001159387.2(B4GALNT2):c.1039G>A (p.Glu347Lys)	B4GALNT2 (E321K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1327528	NM_001159387.2(B4GALNT2):c.1127A>G (p.Gln376Arg)	B4GALNT2 (Q350R +1 more)	Single nucleotide variant (missense variant)	BLOOD GROUP, SID SYSTEM	GAffects
Select item 1286620	NM_001159387.2(B4GALNT2):c.1216T>C (p.Cys406Arg)	B4GALNT2 (C380R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2320894	NM_001159387.2(B4GALNT2):c.1276G>C (p.Val426Leu)	B4GALNT2 (V426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787460	NM_001159387.2(B4GALNT2):c.1300C>T (p.Arg434Ter)	B4GALNT2 (R408* +2 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3132640	NM_001159387.2(B4GALNT2):c.1348G>A (p.Val450Met)	B4GALNT2 (V424M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132642	NM_001159387.2(B4GALNT2):c.1361C>T (p.Pro454Leu)	B4GALNT2 (P454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778130	NM_001159387.2(B4GALNT2):c.1387C>T (p.Arg463Trp)	B4GALNT2 (R437W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3132643	NM_001159387.2(B4GALNT2):c.1424A>G (p.Glu475Gly)	B4GALNT2 (E449G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132644	NM_001159387.2(B4GALNT2):c.1430C>T (p.Thr477Ile)	B4GALNT2 (T477I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132645	NM_001159387.2(B4GALNT2):c.1478T>C (p.Leu493Pro)	B4GALNT2 (L493P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132646	NM_001159387.2(B4GALNT2):c.1490A>G (p.Tyr497Cys)	B4GALNT2 (Y497C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366497	NM_001159387.2(B4GALNT2):c.1517C>T (p.Ala506Val)	B4GALNT2 (A506V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688814	GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3	ABI3, ATP5MC1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 686010	GRCh37/hg19 17q21.32(chr17:47207656-47228423)x1	B4GALNT2	Copy number loss	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394936	GRCh37/hg19 17q21.32(chr17:47210308-47283986)x3	B4GALNT2, GNGT2 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 53