Related gene-specific medical variations for Gene (Select 113263) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3100104	NM_138426.4(GLCCI1):c.314G>C (p.Ser105Thr)	GLCCI1, LOC129997983 (S105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100103	NM_138426.4(GLCCI1):c.167G>C (p.Gly56Ala)	GLCCI1, LOC129997982 (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100102	NM_138426.4(GLCCI1):c.13T>G (p.Ser5Ala)	GLCCI1, LOC129997981 (S5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657321	NM_138426.4(GLCCI1):c.299C>T (p.Ala100Val)	GLCCI1, LOC129997983 (A100V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2463808	NM_138426.4(GLCCI1):c.124G>A (p.Gly42Ser)	GLCCI1, LOC129997982 (G42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410287	NM_138426.4(GLCCI1):c.331C>G (p.Pro111Ala)	GLCCI1, LOC129997983 (P111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384799	NM_138426.4(GLCCI1):c.319T>G (p.Ser107Ala)	GLCCI1, LOC129997983 (S107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382488	NM_138426.4(GLCCI1):c.322A>C (p.Ser108Arg)	GLCCI1, LOC129997983 (S108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382487	NM_138426.4(GLCCI1):c.313A>C (p.Ser105Arg)	GLCCI1, LOC129997983 (S105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380339	NM_138426.4(GLCCI1):c.153C>G (p.Cys51Trp)	GLCCI1, LOC129997982 (C51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379637	NM_138426.4(GLCCI1):c.151T>G (p.Cys51Gly)	GLCCI1, LOC129997982 (C51G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349737	NM_138426.4(GLCCI1):c.130G>A (p.Gly44Ser)	GLCCI1, LOC129997982 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344075	NM_138426.4(GLCCI1):c.154G>T (p.Ala52Ser)	GLCCI1, LOC129997982 (A52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213372	NM_138426.4(GLCCI1):c.127G>C (p.Ala43Pro)	GLCCI1, LOC129997982 (A43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210806	NM_138426.4(GLCCI1):c.125G>C (p.Gly42Ala)	GLCCI1, LOC129997982 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210805	NM_138426.4(GLCCI1):c.116G>C (p.Ser39Thr)	GLCCI1, LOC129997982 (S39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210804	NM_138426.4(GLCCI1):c.112G>C (p.Gly38Arg)	GLCCI1, LOC129997982 (G38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208768	NM_138426.4(GLCCI1):c.305G>T (p.Arg102Leu)	GLCCI1, LOC129997983 (R102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814929	GRCh37/hg19 7p21.3(chr7:7800238-8014026)x1	GLCCI1	Copy number loss	not provided	GUncertain significance