ClinVar for MedGen (Select 1632001) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382108	NM_001129.5(AEBP1):c.730dup (p.Tyr244fs)	AEBP1 (Y244fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GLikely pathogenic
Select item 3233787	NM_001129.5(AEBP1):c.1816_1817del (p.Asp606fs)	AEBP1 (D606fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 2440134	NM_001129.5(AEBP1):c.821del (p.Pro274fs)	AEBP1 (P274fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GLikely pathogenic
Select item 2438901	NM_001129.5(AEBP1):c.194G>A (p.Arg65Gln)	AEBP1 (R65Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2	GUncertain significance
Select item 1930467	NM_001129.5(AEBP1):c.2117A>T (p.Asn706Ile)	AEBP1 (N706I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2 +1 more	GUncertain significance
Select item 1524033	NM_001129.5(AEBP1):c.2183C>T (p.Pro728Leu)	AEBP1 (P728L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328397	NM_001129.5(AEBP1):c.1141G>C (p.Glu381Gln)	AEBP1 (E381Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189019	NM_001129.5(AEBP1):c.863-37dup	AEBP1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1189018	NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr)	AEBP1 (P273T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2 +1 more	GBenign
Select item 1188904	NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu)	AEBP1 (K1133E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2 +1 more	GBenign
Select item 1188903	NM_001129.5(AEBP1):c.2218-37dup	AEBP1	Duplication (intron variant)	Ehlers-Danlos syndrome, classic-like, 2 +1 more	GBenign
Select item 1188902	NM_001129.5(AEBP1):c.996A>G (p.Thr332=)	AEBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1033308	NM_001129.5(AEBP1):c.3384G>C (p.Glu1128Asp)	AEBP1 (E1128D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic-like, 2	GUncertain significance
Select item 1030177	NM_001129.5(AEBP1):c.1067G>A (p.Trp356Ter)	AEBP1 (W356*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 1030176	NM_001129.5(AEBP1):c.2853C>A (p.Tyr951Ter)	AEBP1 (Y951*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 545699	NM_001129.5(AEBP1):c.917dup (p.Tyr306Ter)	AEBP1 (Y306*)	Duplication (nonsense)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 545024	NM_001129.5(AEBP1):c.1320_1326del (p.Arg440fs)	AEBP1 (R440fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 545023	NM_001129.5(AEBP1):c.1470del (p.Asn490fs)	AEBP1 (N490fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic-like, 2	GPathogenic
Select item 545022	NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter)	AEBP1 (C581*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, classic-like, 2 +1 more	GPathogenic/Likely pathogenic
Select item 545021	NM_001129.5(AEBP1):c.1630+1G>A	AEBP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic

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Links from MedGen

Items: 20