ClinVar for MedGen (Select 79381) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585070	NM_006579.3(EBP):c.470-3C>G	EBP	Single nucleotide variant (intron variant)	Chondrodysplasia punctata 2 X-linked dominant	GUncertain significance
Select item 2501695	NM_006579.3(EBP):c.312T>A (p.Tyr104Ter)	EBP (Y104*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 2498139	NM_006579.3(EBP):c.278A>T (p.Asp93Val)	EBP (D93V)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 1699251	NM_006579.3(EBP):c.338+1G>C	EBP	Single nucleotide variant (splice donor variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 1410474	NM_006579.3(EBP):c.184C>T (p.Arg62Trp)	EBP (R62W)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant +1 more	GPathogenic/Likely pathogenic
Select item 1339008	NM_006579.3(EBP):c.206T>G (p.Phe69Cys)	EBP (F69C)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	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 989351	NM_006579.3(EBP):c.203G>A (p.Trp68Ter)	EBP (W68*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
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 807598	NM_006579.3(EBP):c.329G>A (p.Arg110Gln)	EBP (R110Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 803991	NM_006579.3(EBP):c.506_507del (p.Glu169fs)	EBP (E169fs)	Microsatellite (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 803990	NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)	EBP (Y87*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 210906	NM_006579.3(EBP):c.484dup (p.Asp162fs)	EBP (D162fs)	Duplication (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 210905	NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)	EBP (R142fs)	Indel (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 210904	NM_006579.3(EBP):c.369_379delinsAG (p.Ile124_Cys127delinsGly)	EBP	Indel (inframe_indel)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 210903	NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)	EBP (Y111*)	Duplication (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 210902	NM_006579.3(EBP):c.225dup (p.His76fs)	EBP (H76fs)	Duplication (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 210901	NM_006579.3(EBP):c.201_203dup (p.Cys67dup)	EBP	Duplication (inframe_insertion)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158554	NM_006579.3(EBP):c.684GAA[1] (p.Lys229del)	EBP (K229del)	Microsatellite (inframe_deletion)	Chondrodysplasia punctata 2 X-linked dominant +1 more	GUncertain significance
Select item 158553	NM_006579.3(EBP):c.632T>G (p.Leu211Arg)	EBP (L211R)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158552	NM_006579.3(EBP):c.527A>G (p.His176Arg)	EBP (H176R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 158550	NM_006579.3(EBP):c.481G>A (p.Gly161Arg)	EBP (G161R)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158549	NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)	EBP (Y160*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158548	NM_006579.3(EBP):c.464_465del (p.Ser155fs)	EBP (S155fs)	Microsatellite (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158547	NM_006579.3(EBP):c.382C>T (p.Leu128=)	EBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158546	NM_006579.3(EBP):c.331T>C (p.Tyr111His)	EBP (Y111H)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158545	NM_006579.3(EBP):c.328C>T (p.Arg110Ter)	EBP (R110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 158544	NM_006579.3(EBP):c.320G>A (p.Gly107Glu)	EBP (G107E)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158543	NM_006579.3(EBP):c.314C>A (p.Ala105Asp)	EBP (A105D)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158542	NM_006579.3(EBP):c.311A>G (p.Tyr104Cys)	EBP (Y104C)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158541	NM_006579.3(EBP):c.310T>C (p.Tyr104His)	EBP (Y104H)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158540	NM_006579.3(EBP):c.304A>T (p.Lys102Ter)	EBP (K102*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158539	NM_006579.3(EBP):c.303G>T (p.Trp101Cys)	EBP (W101C)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158538	NM_006579.3(EBP):c.301+2T>A	EBP	Single nucleotide variant (splice donor variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158537	NM_006579.3(EBP):c.299T>C (p.Leu100Pro)	EBP (L100P)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158536	NM_006579.3(EBP):c.292_296del (p.Ser98fs)	EBP (S98fs)	Deletion (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 158535	NM_006579.3(EBP):c.218G>A (p.Gly73Glu)	EBP (G73E)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158534	NM_006579.3(EBP):c.214T>C (p.Cys72Arg)	EBP (C72R)	Single nucleotide variant (missense variant)	Chondrodysplasia punctata 2 X-linked dominant	GLikely pathogenic
Select item 158533	NM_006579.3(EBP):c.204G>T (p.Trp68Cys)	EBP (W68C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 158532	NM_006579.3(EBP):c.182G>A (p.Trp61Ter)	EBP (W61*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	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 11492	NM_006579.3(EBP):c.440G>A (p.Arg147His)	EBP (R147H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11491	NM_006579.3(EBP):c.587G>A (p.Trp196Ter)	EBP (W196*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11490	NM_006579.3(EBP):c.523C>T (p.Gln175Ter)	EBP (Q175*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11489	NM_006579.3(EBP):c.386G>A (p.Trp129Ter)	EBP (W129*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11488	NM_006579.3(EBP):c.586_587insA (p.Trp196Ter)	EBP (W196*)	Insertion (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11487	NM_006579.3(EBP):c.390del (p.Pro131fs)	EBP (P131fs)	Deletion (frameshift variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11486	NM_006579.3(EBP):c.338+1G>T	EBP	Single nucleotide variant (splice donor variant)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic
Select item 11485	NM_006579.3(EBP):c.238G>A (p.Glu80Lys)	EBP (E80K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 11484	NM_006579.3(EBP):c.187C>T (p.Arg63Ter)	EBP (R63*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11483	NM_006579.3(EBP):c.87G>A (p.Trp29Ter)	EBP (W29*)	Single nucleotide variant (nonsense)	Chondrodysplasia punctata 2 X-linked dominant	GPathogenic

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Items: 55