"GeneDx"[submitter] AND "B3GNT4"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 1279245	NM_001371333.1(DIABLO):c.*262dup	B3GNT4, DIABLO	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1247587	NM_001371333.1(DIABLO):c.*108A>G	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1327665	NM_001371333.1(DIABLO):c.*78G>A	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1249498	NM_001371333.1(DIABLO):c.*54T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 226562	NM_001371333.1(DIABLO):c.690G>A (p.Ser230=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 288171	NM_001371333.1(DIABLO):c.670G>A (p.Gly224Arg)	B3GNT4, DIABLO (G224R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 514568	NM_001371333.1(DIABLO):c.660A>G (p.Thr220=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 514370	NM_001371333.1(DIABLO):c.546C>T (p.Thr182=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1201322	NM_001371333.1(DIABLO):c.525C>T (p.Gly175=)	B3GNT4, DIABLO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317978	NM_001371333.1(DIABLO):c.524-20A>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1276605	NM_001371333.1(DIABLO):c.524-255T>C	B3GNT4, DIABLO	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 253773	GRCh37/hg19 12q24.31(chr12:122676019-122710016)x1	B3GNT4, DIABLO +1 more	Copy number loss	See cases	GUncertain significance