ClinVar for MedGen (Select 1846304) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2882131	NM_006329.4(FBLN5):c.479G>A (p.Trp160Ter)	FBLN5 (W160* +3 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal recessive, type 1A	GPathogenic
Select item 2500129	NG_008254.1:g.48570_71295dup22726	FBLN5	Indel	Cutis laxa, autosomal recessive, type 1A	Gnot provided
Select item 1804877	NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)	FBLN5 (C144W +3 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant	GUncertain significance
Select item 1172837	NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)	FBLN5 (N123T +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +3 more	GUncertain significance
Select item 995864	NM_006329.4(FBLN5):c.1134T>G (p.Tyr378Ter)	FBLN5 (Y322* +3 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal recessive, type 1A	GPathogenic
Select item 689758	NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	FBLN5 (S401fs +5 more)	Deletion (frameshift variant)	Macular degeneration, age-related, 3 +2 more	GPathogenic
Select item 417872	NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	FBLN5 (R395W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218359	NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	FBLN5 (G90S +3 more)	Single nucleotide variant (missense variant)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 163450	NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 39016	NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)	EFEMP2 (C267Y)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 39015	NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)	EFEMP2 (I259V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 39014	NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)	EFEMP2 (D203A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39013	NM_016938.5(EFEMP2):c.577del (p.Gln193fs)	EFEMP2 (Q193fs)	Deletion (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 39012	NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)	EFEMP2 (E126V)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 39011	NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)	EFEMP2 (E126K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 39010	NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)	EFEMP2, MUS81 (R409Q)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 39009	NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)	EFEMP2, MUS81 (A397T)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 21454	NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)	FBLN5 (C217R +3 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 21453	NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	FBLN5 (G202R +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 21451	NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	FBLN5 (E391* +3 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 21450	NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)	FBLN5 (D364Y +3 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal recessive, type 1A	Gnot provided
Select item 5481	NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	FBLN5 (R351W +3 more)	Single nucleotide variant (missense variant)	Macular degeneration, age-related, 3 +7 more	GUncertain significance
Select item 5475	NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)	FBLN5 (S227P +3 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 5425	NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)	EFEMP2 (D359fs)	Duplication (frameshift variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic
Select item 5424	NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)	EFEMP2 (R279C)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GLikely pathogenic
Select item 5423	NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)	EFEMP2 (E57K)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal recessive, type 1B	GPathogenic

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Items: 26