"GeneDx"[submitter] AND "B4GAT1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1186329	NM_006876.3(B4GAT1):c.*193C>T	B4GAT1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 524131	NM_006876.3(B4GAT1):c.1233_1234del (p.Arg413fs)	B4GAT1 (R413fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 242670	NM_006876.3(B4GAT1):c.1217C>T (p.Ala406Val)	B4GAT1 (A406V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 420656	NM_006876.3(B4GAT1):c.1206G>A (p.Gln402=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 503771	NM_006876.3(B4GAT1):c.1179_1181del (p.Asn393del)	B4GAT1 (N393del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 242669	NM_006876.3(B4GAT1):c.1168A>G (p.Asn390Asp)	B4GAT1 (N390D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 474248	NM_006876.3(B4GAT1):c.1161G>A (p.Glu387=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 541281	NM_006876.3(B4GAT1):c.1146C>G (p.Phe382Leu)	B4GAT1 (F382L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 423075	NM_006876.3(B4GAT1):c.1136C>G (p.Ala379Gly)	B4GAT1 (A379G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 507234	NM_006876.3(B4GAT1):c.1056+6C>G	B4GAT1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GConflicting classifications of pathogenicity
Select item 420609	NM_006876.3(B4GAT1):c.987C>T (p.Tyr329=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GBenign/Likely benign
Select item 664213	NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)	B4GAT1 (F328L)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 510922	NM_006876.3(B4GAT1):c.924G>A (p.Pro308=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1307183	NM_006876.3(B4GAT1):c.893CCA[1] (p.Thr299del)	B4GAT1 (T299del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 420641	NM_006876.3(B4GAT1):c.828G>T (p.Val276=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 515274	NM_006876.3(B4GAT1):c.777C>G (p.Ala259=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 573749	NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)	B4GAT1 (T253S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +2 more	GUncertain significance
Select item 2499924	NM_006876.3(B4GAT1):c.518C>A (p.Pro173Gln)	B4GAT1 (P173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 420984	NM_006876.3(B4GAT1):c.510C>G (p.Pro170=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +2 more	GLikely benign
Select item 515516	NM_006876.3(B4GAT1):c.468C>T (p.His156=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GLikely benign
Select item 1304862	NM_006876.3(B4GAT1):c.447G>T (p.Met149Ile)	B4GAT1 (M149I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 577279	NM_006876.3(B4GAT1):c.447G>C (p.Met149Ile)	B4GAT1 (M149I)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +2 more	GUncertain significance
Select item 1448687	NM_006876.3(B4GAT1):c.409G>A (p.Val137Met)	B4GAT1 (V137M)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 546525	NM_006876.3(B4GAT1):c.377C>T (p.Ala126Val)	B4GAT1 (A126V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422976	NM_006876.3(B4GAT1):c.363C>T (p.Ser121=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GLikely benign
Select item 581531	NM_006876.3(B4GAT1):c.355C>A (p.Pro119Thr)	B4GAT1 (P119T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307190	NM_006876.3(B4GAT1):c.338T>C (p.Leu113Pro)	B4GAT1 (L113P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 426572	NM_006876.3(B4GAT1):c.226A>G (p.Ser76Gly)	B4GAT1 (S76G)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 421636	NM_006876.3(B4GAT1):c.196G>A (p.Ala66Thr)	B4GAT1 (A66T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 513720	NM_006876.3(B4GAT1):c.195C>T (p.Thr65=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 421536	NM_006876.3(B4GAT1):c.177C>T (p.Val59=)	B4GAT1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 703631	NM_006876.3(B4GAT1):c.162G>T (p.Arg54=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 260057	NM_006876.3(B4GAT1):c.117G>A (p.Gln39=)	B4GAT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1195055	NM_006876.3(B4GAT1):c.76C>A (p.Gln26Lys)	B4GAT1 (Q26K)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GUncertain significance
Select item 421895	NM_006876.3(B4GAT1):c.69G>C (p.Ala23=)	B4GAT1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 +1 more	GLikely benign
Select item 518203	NM_006876.3(B4GAT1):c.-13A>C	B4GAT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512156	NM_006876.3(B4GAT1):c.-15C>G	B4GAT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511266	NM_006876.3(B4GAT1):c.-18C>T	B4GAT1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2502648	NC_000011.10:g.66347682GCCCGCC[6]	B4GAT1, LOC130006116	Microsatellite	not provided	GLikely benign
Select item 1269071	NC_000011.10:g.66347682GCCCGCC[4]	B4GAT1, LOC130006116	Microsatellite	not provided	GBenign
Select item 678225	NM_006876.2(B4GAT1):c.-248C>T	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GBenign
Select item 1183271	NC_000011.10:g.66347796G>T	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GLikely benign
Select item 1222522	NC_000011.10:g.66347816G>C	B4GAT1, LOC130006116	Single nucleotide variant	not provided	GBenign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance

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Items: 44