"GeneDx"[submitter] AND "LOC126861480"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1243500	NM_021957.4(GYS2):c.1422+215C>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291343	NM_021957.4(GYS2):c.1422+203A>C	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291342	NM_021957.4(GYS2):c.1422+125G>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261466	NM_021957.4(GYS2):c.1422+23C>G	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 512143	NM_021957.4(GYS2):c.1404C>T (p.Asn468=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 307994	NM_021957.4(GYS2):c.1389T>C (p.Ile463=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	Glycogen storage disorder due to hepatic glycogen synthase deficiency +1 more	GBenign
Select item 390552	NM_021957.4(GYS2):c.1359C>T (p.Thr453=)	GYS2, LOC126861480	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 514384	NM_021957.4(GYS2):c.1353C>T (p.Asp451=)	LOC126861480, GYS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1291016	NM_021957.4(GYS2):c.1309-134G>A	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235869	NM_021957.4(GYS2):c.1309-138C>G	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263078	NM_021957.4(GYS2):c.1309-189C>T	GYS2, LOC126861480	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214531	NM_021957.4(GYS2):c.1277C>T (p.Thr426Ile)	GYS2, LOC126861480 (T426I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance