ClinVar for MedGen (Select 332067) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031664	NM_000821.7(GGCX):c.2084+5G>A	GGCX	Single nucleotide variant (intron variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency +1 more	GUncertain significance
Select item 995973	NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter)	GGCX (G480* +1 more)	Single nucleotide variant (nonsense)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 995971	NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys)	GGCX (R456K +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 988875	NM_000821.7(GGCX):c.1217G>A (p.Arg406His)	GGCX (R349H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 16206	NM_000821.7(GGCX):c.763G>A (p.Val255Met)	GGCX (V255M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 16205	NM_000821.7(GGCX):c.1427G>A (p.Arg476His)	GGCX (R476H +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16204	NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys)	GGCX (R476C +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16203	G537Y	GGCX	Variation	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16202	NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter)	GGCX (Q374* +1 more)	Single nucleotide variant (nonsense)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16201	NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser)	GGCX (W493S +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16200	NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg)	GGCX (G558R +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16199	NM_000821.7(GGCX):c.896T>C (p.Phe299Ser)	GGCX (F299S +1 more)	Single nucleotide variant (missense variant)	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	GPathogenic
Select item 16196	NM_000821.7(GGCX):c.899C>T (p.Ser300Phe)	GGCX (S300F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance