Related gene-specific medical variations for Gene (Select 2734) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602990	NM_001145667.2(GLG1):c.307G>A (p.Gly103Arg)	GLG1, LOC130059387 (G103R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594087	NM_001145667.2(GLG1):c.2811G>A (p.Met937Ile)	GLG1, LOC126862398 (M937I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523196	NM_001145667.2(GLG1):c.383A>C (p.Lys128Thr)	GLG1, LOC130059387 (K128T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308274	NM_001145667.2(GLG1):c.293C>T (p.Pro98Leu)	GLG1, LOC130059387 (P98L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287237	NM_001145667.2(GLG1):c.2889A>C (p.Leu963Phe)	GLG1, LOC126862398 (L963F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286640	NM_001145667.2(GLG1):c.2840C>T (p.Pro947Leu)	GLG1, LOC126862398 (P936L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240502	NM_001145667.2(GLG1):c.334C>G (p.Leu112Val)	GLG1, LOC130059387 (L112V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208704	NM_001145667.2(GLG1):c.2966G>A (p.Arg989Gln)	GLG1, LOC126862398 (R989Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 688143	GRCh37/hg19 16q23.1(chr16:74456587-74630675)x3	GLG1	Copy number gain	not provided	GUncertain significance