Related gene-specific medical variations for Gene (Select 2992) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246935	NC_000003.11:g.(?_148709428)_(148709454_?)del	GYG1	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 2637494	NM_004130.4(GYG1):c.7+2T>C	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 2428619	NM_004130.4(GYG1):c.674A>G (p.Asp225Gly)	GYG1 (D225G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2169617	NM_004130.4(GYG1):c.7+17C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 1941274	NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)	GYG1, LOC129937737 (T2R)	Single nucleotide variant (missense variant)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1508529	NM_004130.4(GYG1):c.2T>A (p.Met1Lys)	GYG1, LOC129937737 (M1K)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 1477393	NM_004130.4(GYG1):c.3G>C (p.Met1Ile)	GYG1, LOC129937737 (M1I)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 1323045	NM_004130.4(GYG1):c.713C>G (p.Pro238Arg)	GYG1 (P238R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1191228	NM_004130.4(GYG1):c.-73C>G	GYG1, LOC129937737	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1124324	NM_004130.4(GYG1):c.7+8C>T	GYG1, LOC129937737	Single nucleotide variant (intron variant)	Glycogen storage disease XV +1 more	GLikely benign
Select item 931060	NM_004130.4(GYG1):c.955G>C (p.Glu319Gln)	GYG1 (E302Q +1 more)	Single nucleotide variant (missense variant +1 more)	Polyglucosan body myopathy type 2	GUncertain significance
Select item 675513	NM_004130.4(GYG1):c.7+96C>G	GYG1, LOC129937737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672471	NM_004130.4(GYG1):c.7+316G>A	GYG1, LOC129937737	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 666973	NM_004130.4(GYG1):c.7+1G>A	GYG1, LOC129937737	Single nucleotide variant (splice donor variant)	Polyglucosan body myopathy type 2 +1 more	GLikely pathogenic
Select item 548588	NM_004130.4(GYG1):c.866G>T (p.Gly289Val)	GYG1 (G289V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease XV +1 more	GUncertain significance
Select item 419783	NM_004130.4(GYG1):c.-40del	GYG1, LOC129937737	Deletion (5 prime UTR variant)	not specified	GLikely benign