Related gene-specific medical variations for Gene (Select 2677) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247471	NC_000002.11:g.(?_85778214)_(85779781_?)del	GGCX	Deletion	not provided	GPathogenic
Select item 1679656	NM_000821.7(GGCX):c.973dup (p.Arg325fs)	GGCX (R268fs +1 more)	Duplication (frameshift variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely pathogenic
Select item 898901	NM_000821.7(GGCX):c.*4798G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898900	NM_000821.7(GGCX):c.*4840T>C	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GBenign
Select item 898899	NM_000821.7(GGCX):c.*4848C>T	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 898175	NM_000821.7(GGCX):c.-46C>G	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895938	NM_000821.7(GGCX):c.*4681G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 895937	NM_000821.7(GGCX):c.*4720G>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337284	NM_000821.7(GGCX):c.-53C>T	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337283	NM_000821.7(GGCX):c.-46C>T	GGCX, LOC129934217	Single nucleotide variant (5 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337175	NM_000821.7(GGCX):c.*4726A>C	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GLikely benign
Select item 337174	NM_000821.7(GGCX):c.*4744C>T	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337173	NM_000821.7(GGCX):c.*4895T>A	GGCX, MAT2A	Single nucleotide variant (3 prime UTR variant)	Vitamin K-dependent clotting factors, combined deficiency of, type 1	GUncertain significance
Select item 337172	NM_000821.7(GGCX):c.*4995dup	MAT2A, GGCX	Duplication (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 337171	NM_000821.7(GGCX):c.*4996del	GGCX, MAT2A	Deletion (3 prime UTR variant)	Vitamin K-Dependent Clotting Factors	GUncertain significance
Select item 16203	G537Y	GGCX	Variation	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic