ClinVar for MedGen (Select 905986) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664912	NM_006579.3(EBP):c.424C>T (p.Arg142Cys)	EBP (R142C)	Single nucleotide variant (missense variant)	MEND syndrome	GUncertain significance
Select item 1526120	NM_006579.3(EBP):c.556T>C (p.Trp186Arg)	EBP (W186R)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 1330409	NM_006579.3(EBP):c.283G>A (p.Ala95Thr)	EBP (A95T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 811902	NM_006579.3(EBP):c.188G>A (p.Arg63Gln)	EBP (R63Q)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +3 more	GConflicting classifications of pathogenicity
Select item 592979	NM_006579.3(EBP):c.650C>T (p.Thr217Met)	EBP (T217M)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +3 more	GBenign/Likely benign
Select item 265110	NM_006579.3(EBP):c.439C>T (p.Arg147Cys)	EBP (R147C)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GPathogenic/Likely pathogenic
Select item 218685	NM_006579.3(EBP):c.13G>A (p.Ala5Thr)	EBP (A5T)	Single nucleotide variant (missense variant)	MEND syndrome +5 more	GBenign/Likely benign
Select item 209040	NM_006579.3(EBP):c.139T>C (p.Trp47Arg)	EBP (W47R)	Single nucleotide variant (missense variant)	MEND syndrome	GPathogenic
Select item 209039	NM_006579.3(EBP):c.224T>A (p.Ile75Asn)	EBP (I75N)	Single nucleotide variant (missense variant)	MEND syndrome	GPathogenic
Select item 158531	NM_006579.3(EBP):c.15G>T (p.Ala5=)	EBP	Single nucleotide variant (synonymous variant)	MEND syndrome +3 more	GBenign
Select item 158530	NM_006579.3(EBP):c.141G>T (p.Trp47Cys)	EBP (W47C)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11493	NM_006579.3(EBP):c.53T>C (p.Leu18Pro)	EBP (L18P)	Single nucleotide variant (missense variant)	MEND syndrome	GPathogenic