B3GALT1-AS1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 144317	GRCh38/hg38 2q24.3(chr2:167363813-167881476)x3	B3GALT1, B3GALT1-AS1	Copy number gain	See cases	GUncertain significance
Select item 3132532	NM_020981.4(B3GALT1):c.73A>G (p.Ile25Val)	B3GALT1, B3GALT1-AS1 (I25V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2489613	NM_020981.4(B3GALT1):c.91T>C (p.Ser31Pro)	B3GALT1, B3GALT1-AS1 (S31P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274594	NM_020981.4(B3GALT1):c.121C>G (p.Leu41Val)	B3GALT1, B3GALT1-AS1 (L41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270257	NM_020981.4(B3GALT1):c.121C>A (p.Leu41Ile)	B3GALT1, B3GALT1-AS1 (L41I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362791	NM_020981.4(B3GALT1):c.164C>G (p.Thr55Ser)	B3GALT1, B3GALT1-AS1 (T55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132528	NM_020981.4(B3GALT1):c.175A>T (p.Asn59Tyr)	B3GALT1, B3GALT1-AS1 (N59Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132529	NM_020981.4(B3GALT1):c.298A>T (p.Thr100Ser)	B3GALT1, B3GALT1-AS1 (T100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245302	NM_020981.4(B3GALT1):c.349C>T (p.Leu117Phe)	B3GALT1, B3GALT1-AS1 (L117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479188	NM_020981.4(B3GALT1):c.370C>T (p.Pro124Ser)	B3GALT1, B3GALT1-AS1 (P124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603879	NM_020981.4(B3GALT1):c.388G>T (p.Val130Leu)	B3GALT1, B3GALT1-AS1 (V130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161742	NM_020981.4(B3GALT1):c.543del (p.Phe181fs)	B3GALT1, B3GALT1-AS1 (F181fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 2391450	NM_020981.4(B3GALT1):c.553G>A (p.Asp185Asn)	B3GALT1, B3GALT1-AS1 (D185N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132530	NM_020981.4(B3GALT1):c.587C>T (p.Thr196Ile)	B3GALT1, B3GALT1-AS1 (T196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132531	NM_020981.4(B3GALT1):c.619G>A (p.Val207Ile)	B3GALT1, B3GALT1-AS1 (V207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 993517	NM_020981.4(B3GALT1):c.857A>G (p.Asn286Ser)	B3GALT1, B3GALT1-AS1 (N286S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20