B3GNTL1[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	B3GNTL1, CCDC57 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	See cases	GUncertain significance
Select item 58300	GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 more	Copy number loss	See cases	GUncertain significance
Select item 57460	GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	FN3K, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 154076	GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 149274	GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1	B3GNTL1, FN3K +31 more	Copy number loss	See cases	GUncertain significance
Select item 148397	GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1	B3GNTL1, FN3K +32 more	Copy number loss	See cases	GUncertain significance
Select item 149532	GRCh38/hg38 17q25.3(chr17:82884871-83102552)x1	B3GNTL1, LOC121852957 +5 more	Copy number loss	See cases	GUncertain significance
Select item 57371	GRCh38/hg38 17q25.3(chr17:82884871-83086677)x3	B3GNTL1, LOC121852957 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154564	GRCh38/hg38 17q25.3(chr17:82911614-83048826)x1	B3GNTL1, LOC121852957 +3 more	Copy number loss	See cases	GUncertain significance
Select item 151496	GRCh38/hg38 17q25.3(chr17:82911614-83048767)x3	B3GNTL1, LOC121852957 +3 more	Copy number gain	See cases	GBenign
Select item 145627	GRCh38/hg38 17q25.3(chr17:82911614-83086677)x1	B3GNTL1, LOC121852957 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2762933	NM_001009905.3(B3GNTL1):c.*1645A>G	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2991092	NM_001009905.3(B3GNTL1):c.*1643C>G	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1977902	NM_001009905.3(B3GNTL1):c.*1641G>A	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1574997	NM_001009905.3(B3GNTL1):c.1634_1638del	B3GNTL1, TBCD	Deletion (intron variant +2 more)	not provided	GLikely benign
Select item 2957060	NM_001009905.3(B3GNTL1):c.*1636G>A	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2987538	NM_001009905.3(B3GNTL1):c.*1634G>T	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2860106	NM_001009905.3(B3GNTL1):c.*1634G>C	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3002020	NM_001009905.3(B3GNTL1):c.1632_1633del	B3GNTL1, TBCD	Deletion (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2984425	NM_001009905.3(B3GNTL1):c.*1633A>G	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1563878	NM_001009905.3(B3GNTL1):c.*1632A>G	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2752262	NM_001009905.3(B3GNTL1):c.*1631G>A	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2784652	NM_001009905.3(B3GNTL1):c.*1630A>G	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2775648	NM_005993.5(TBCD):c.3576C>T (p.Cys1192=)	B3GNTL1, TBCD	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2592306	NM_001009905.3(B3GNTL1):c.1014G>C (p.Glu338Asp)	B3GNTL1 (E175D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602737	NM_001009905.3(B3GNTL1):c.980T>C (p.Phe327Ser)	B3GNTL1 (F164S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313218	NM_001009905.3(B3GNTL1):c.932G>A (p.Arg311Gln)	B3GNTL1 (R148Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328702	NM_001009905.3(B3GNTL1):c.931C>G (p.Arg311Gly)	B3GNTL1 (R148G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595797	NM_001009905.3(B3GNTL1):c.902G>A (p.Arg301Gln)	B3GNTL1 (R301Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268040	NM_001009905.3(B3GNTL1):c.890G>C (p.Arg297Thr)	B3GNTL1 (R134T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270258	NM_001009905.3(B3GNTL1):c.860G>T (p.Gly287Val)	B3GNTL1 (G288V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294339	NM_001009905.3(B3GNTL1):c.811C>A (p.Arg271Ser)	B3GNTL1 (R272S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782918	NM_001009905.3(B3GNTL1):c.793T>C (p.Leu265=)	B3GNTL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2387391	NM_001009905.3(B3GNTL1):c.760G>A (p.Ala254Thr)	B3GNTL1 (A255T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295616	NM_001009905.3(B3GNTL1):c.742G>A (p.Ala248Thr)	B3GNTL1 (A249T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2603680	NM_001009905.3(B3GNTL1):c.733C>T (p.Arg245Cys)	B3GNTL1 (R245C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 154972	GRCh38/hg38 17q25.3(chr17:82959804-83011545)x3	B3GNTL1, LOC121852957 +1 more	Copy number gain	See cases	GLikely benign
Select item 150973	GRCh38/hg38 17q25.3(chr17:82959804-82970085)x1	B3GNTL1	Copy number loss	See cases	GLikely benign
Select item 2400919	NM_001009905.3(B3GNTL1):c.607G>A (p.Gly203Ser)	B3GNTL1 (G203S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472342	NM_001009905.3(B3GNTL1):c.600G>T (p.Lys200Asn)	B3GNTL1 (K200N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487388	NM_001009905.3(B3GNTL1):c.582C>G (p.Phe194Leu)	B3GNTL1 (F194L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 57327	GRCh38/hg38 17q25.3(chr17:82962359-83086677)x3	B3GNTL1, LOC121852957 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2305420	NM_001009905.3(B3GNTL1):c.509C>T (p.Ser170Leu)	B3GNTL1 (S171L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254237	NM_001009905.3(B3GNTL1):c.482C>T (p.Thr161Met)	B3GNTL1 (T161M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 154606	GRCh38/hg38 17q25.3(chr17:82970010-83086677)x1	B3GNTL1, LOC121852957 +2 more	Copy number loss	See cases	GUncertain significance
Select item 149892	GRCh38/hg38 17q25.3(chr17:82970026-83060396)x3	B3GNTL1, LOC121852957 +1 more	Copy number gain	See cases	GLikely benign
Select item 2221961	NM_001009905.3(B3GNTL1):c.431A>G (p.Gln144Arg)	B3GNTL1 (Q144R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240803	NM_001009905.3(B3GNTL1):c.395C>T (p.Pro132Leu)	B3GNTL1 (P133L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 151582	GRCh38/hg38 17q25.3(chr17:83048767-83086618)x3	B3GNTL1, METRNL	Copy number gain	See cases	GBenign
Select item 2613278	NM_001009905.3(B3GNTL1):c.-2C>G	B3GNTL1	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2684860	GRCh37/hg19 17q25.3(chr17:80678790-80943685)x3	B3GNTL1, FN3K +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2571007	GRCh37/hg19 17q25.3(chr17:80656331-81009672)x3	B3GNTL1, FN3K +4 more	Copy number gain	not provided	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 1808859	GRCh37/hg19 17q25.3(chr17:80809608-81041938)x3	B3GNTL1, METRNL +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808572	GRCh37/hg19 17q25.3(chr17:80585033-81041938)x3	B3GNTL1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1707631	GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3	B3GNTL1, FN3K +7 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, ALYREF +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 1341991	GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1	B3GNTL1, FN3K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340721	GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340696	GRCh37/hg19 17q25.3(chr17:80787030-81041938)x3	B3GNTL1, METRNL +2 more	Copy number gain	not provided	GUncertain significance
Select item 988934	GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 815956	GRCh37/hg19 17q25.3(chr17:80717487-81041938)x3	TBCD, B3GNTL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688719	GRCh37/hg19 17q25.3(chr17:80811894-81041938)x3	B3GNTL1, METRNL +1 more	Copy number gain	not provided	GUncertain significance
Select item 688507	GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564480	GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 564479	GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1	ZNF750, TBCD +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442988	GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	See cases	GUncertain significance
Select item 442381	GRCh37/hg19 17q25.3(chr17:80860619-81041938)x1	B3GNTL1, METRNL +1 more	Copy number loss	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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 395410	GRCh37/hg19 17q25.3(chr17:80881112-80970272)x3	B3GNTL1, TBCD	Copy number gain	See cases	GLikely benign
Select item 394675	GRCh37/hg19 17q25.3(chr17:81006643-81085615)x3	B3GNTL1, METRNL	Copy number gain	See cases	GLikely benign
Select item 393548	GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3	METRNL, TBCD +1 more	Copy number gain	VATER association	GLikely benign

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Items: 95