ClinVar for MedGen (Select 905986) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598332	NM_006579.3(EBP):c.626A>C (p.Lys209Thr)	EBP (K209T)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 3598331	NM_006579.3(EBP):c.604G>C (p.Val202Leu)	EBP (V202L)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 3598330	NM_006579.3(EBP):c.347A>G (p.Asn116Ser)	EBP (N116S)	Single nucleotide variant (missense variant)	MEND syndrome +2 more	GUncertain significance
Select item 3598329	NM_006579.3(EBP):c.193T>C (p.Ser65Pro)	EBP (S65P)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 3598328	NM_006579.3(EBP):c.50G>C (p.Arg17Thr)	EBP (R17T)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 3598326	NM_006579.3(EBP):c.27C>G (p.His9Gln)	EBP (H9Q)	Single nucleotide variant (missense variant)	MEND syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3598325	NM_006579.3(EBP):c.25C>T (p.His9Tyr)	EBP (H9Y)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 3086881	NM_006579.3(EBP):c.250G>A (p.Val84Ile)	EBP (V84I)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +2 more	GConflicting classifications of pathogenicity
Select item 3013142	NM_006579.3(EBP):c.185G>A (p.Arg62Gln)	EBP (R62Q)	Single nucleotide variant (missense variant)	MEND syndrome +2 more	GUncertain significance
Select item 2664912	NM_006579.3(EBP):c.424C>T (p.Arg142Cys)	EBP (R142C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1526120	NM_006579.3(EBP):c.556T>C (p.Trp186Arg)	EBP (W186R)	Single nucleotide variant (missense variant)	not provided +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 1299857	NM_006579.3(EBP):c.175G>A (p.Gly59Arg)	EBP (G59R)	Single nucleotide variant (missense variant)	MEND syndrome +1 more	GUncertain significance
Select item 811902	NM_006579.3(EBP):c.188G>A (p.Arg63Gln)	EBP (R63Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 759959	NM_006579.3(EBP):c.414C>T (p.Ile138=)	EBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 592979	NM_006579.3(EBP):c.650C>T (p.Thr217Met)	EBP (T217M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 265110	NM_006579.3(EBP):c.439C>T (p.Arg147Cys)	EBP (R147C)	Single nucleotide variant (missense variant)	not provided +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 +4 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 158551	NM_006579.3(EBP):c.511C>T (p.Arg171Cys)	EBP (R171C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 158531	NM_006579.3(EBP):c.15G>T (p.Ala5=)	EBP	Single nucleotide variant (synonymous variant)	Chondrodysplasia punctata 2 X-linked dominant +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
Select item 11492	NM_006579.3(EBP):c.440G>A (p.Arg147His)	EBP (R147H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 25