B4GALT5[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2270047	NM_004776.4(B4GALT5):c.1147G>C (p.Ala383Pro)	B4GALT5 (A383P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284851	NM_004776.4(B4GALT5):c.1022A>G (p.Tyr341Cys)	B4GALT5 (Y341C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268402	NM_004776.4(B4GALT5):c.929C>T (p.Ala310Val)	B4GALT5 (A310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132716	NM_004776.4(B4GALT5):c.851G>A (p.Arg284Gln)	B4GALT5 (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709517	NM_004776.4(B4GALT5):c.819C>T (p.Gly273=)	B4GALT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2559533	NM_004776.4(B4GALT5):c.734A>T (p.Tyr245Phe)	B4GALT5 (Y245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369309	NM_004776.4(B4GALT5):c.575G>A (p.Arg192His)	B4GALT5 (R192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770001	NM_004776.4(B4GALT5):c.490-9C>T	B4GALT5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2457034	NM_004776.4(B4GALT5):c.427A>G (p.Lys143Glu)	B4GALT5 (K143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259514	NM_004776.4(B4GALT5):c.387G>A (p.Met129Ile)	B4GALT5 (M129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372364	NM_004776.4(B4GALT5):c.373A>G (p.Ile125Val)	B4GALT5 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717599	NM_004776.4(B4GALT5):c.222C>T (p.Ala74=)	B4GALT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132715	NM_004776.4(B4GALT5):c.196G>A (p.Glu66Lys)	B4GALT5 (E66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259525	NM_004776.4(B4GALT5):c.135G>C (p.Met45Ile)	B4GALT5 (M45I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731031	NM_004776.4(B4GALT5):c.60C>T (p.Phe20=)	B4GALT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2323132	NM_004776.4(B4GALT5):c.53C>T (p.Ala18Val)	B4GALT5 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259505	NM_004776.4(B4GALT5):c.35G>A (p.Arg12His)	B4GALT5 (R12H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 688025	GRCh37/hg19 20q13.13(chr20:48023123-48581111)x1	B4GALT5, KCNB1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 187826	GRCh37/hg19 20q13.13-13.2(chr20:47682662-49884981)x1	KCNG1, SPATA2 +22 more	Copy number loss	See cases	GLikely pathogenic

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Items: 27