B3GALT1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +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 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 153905	GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1	B3GALT1, LOC122847309 +4 more	Copy number loss	See cases	GLikely benign
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 3258597	NM_020981.4(B3GALT1):c.85A>C (p.Thr29Pro)	B3GALT1, B3GALT1-AS1 (T29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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-AS1, B3GALT1 (N286S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3062662	GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1	ABCB11, B3GALT1 +14 more	Copy number loss	not specified	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526932	GRCh37/hg19 2q24.3(chr2:168340425-168761201)	B3GALT1	Copy number loss	not specified	GUncertain significance
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979382	GRCh37/hg19 2q24.3(chr2:168619461-168857853)x3	B3GALT1, STK39	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 686053	GRCh37/hg19 2q24.3(chr2:168720194-168815511)x3	B3GALT1, STK39	Copy number gain	not provided	GUncertain significance
Select item 493569	GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1	CSRNP3, G6PC2 +16 more	Copy number loss	not provided	GLikely pathogenic
Select item 443473	GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1	ACVR1, ACVR1C +42 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442551	GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1	B3GALT1, CERS6 +9 more	Copy number loss	See cases	GPathogenic
Select item 442396	GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1	B3GALT1, COBLL1 +13 more	Copy number loss	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic

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Items: 42