ClinVar for Gene (Select 129936408) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171696	NM_178862.3(STT3B):c.106C>T (p.Pro36Ser)	LOC129936408, STT3B (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2893760	NM_178862.3(STT3B):c.201G>C (p.Gly67=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1617933	NM_178862.3(STT3B):c.153G>C (p.Pro51=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 729966	NM_178862.3(STT3B):c.171G>A (p.Gly57=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 705134	NM_178862.3(STT3B):c.87C>T (p.Ser29=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702393	NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)	LOC129936408, STT3B (G46S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GBenign
Select item 513479	NM_178862.3(STT3B):c.141C>T (p.Gly47=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic