ClinVar for MedGen (Select 65095) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663854	NM_004429.5(EFNB1):c.67del (p.Arg23fs)	EFNB1 (R23fs)	Deletion (frameshift variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 2573204	NM_004429.5(EFNB1):c.474G>A (p.Met158Ile)	EFNB1 (M158I)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GPathogenic
Select item 2500937	NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)	EFNB1 (P34fs)	Deletion (frameshift variant)	Craniofrontonasal syndrome	GPathogenic
Select item 2500875	NM_004429.5(EFNB1):c.406+4A>G	EFNB1	Single nucleotide variant (intron variant)	Craniofrontonasal syndrome	GUncertain significance
Select item 1895436	NM_004429.5(EFNB1):c.196del (p.Arg66fs)	EFNB1 (R66fs)	Deletion (frameshift variant)	Craniofrontonasal syndrome	GPathogenic
Select item 1803718	NM_004429.5(EFNB1):c.149T>A (p.Leu50Ter)	EFNB1 (L50*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 1687181	NM_004429.5(EFNB1):c.128+1G>C	EFNB1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1685313	NM_004429.5(EFNB1):c.473T>G (p.Met158Arg)	EFNB1 (M158R)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 1494849	NM_004429.5(EFNB1):c.344A>G (p.Gln115Arg)	EFNB1 (Q115R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1322817	NM_004429.5(EFNB1):c.111G>A (p.Trp37Ter)	EFNB1 (W37*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 1222953	NM_004429.5(EFNB1):c.*6C>T	EFNB1	Single nucleotide variant (3 prime UTR variant)	Craniofrontonasal syndrome +1 more	GBenign
Select item 981194	NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly)	EFNB1 (D61G)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 981193	NM_004429.5(EFNB1):c.128+5G>A	EFNB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981192	NM_004429.5(EFNB1):c.635_636del (p.Val212fs)	EFNB1 (V212fs)	Microsatellite (frameshift variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 929457	NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)	EFNB1 (W8*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 917767	NM_004429.5(EFNB1):c.457_458dup (p.Arg154fs)	EFNB1 (R154fs)	Microsatellite (frameshift variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 812706	NM_004429.5(EFNB1):c.253C>T (p.Gln85Ter)	EFNB1 (Q85*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 691566	NM_004429.5(EFNB1):c.499+2_499+7del	EFNB1	Deletion (splice donor variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 634590	NM_004429.5(EFNB1):c.749T>G (p.Ile250Ser)	EFNB1 (I250S)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GUncertain significance
Select item 559938	NM_004429.5(EFNB1):c.499+1G>A	EFNB1	Single nucleotide variant (splice donor variant)	Craniofrontonasal syndrome	GPathogenic/Likely pathogenic
Select item 435029	NM_004429.5(EFNB1):c.523C>T (p.Gln175Ter)	EFNB1 (Q175*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 435028	NM_004429.5(EFNB1):c.562_563del (p.Thr188fs)	EFNB1 (T188fs)	Microsatellite (frameshift variant)	Craniofrontonasal syndrome	GPathogenic
Select item 435027	NM_004429.5(EFNB1):c.131T>C (p.Phe44Ser)	EFNB1 (F44S)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 435026	NM_004429.5(EFNB1):c.128+2T>A	EFNB1	Single nucleotide variant (splice donor variant)	Craniofrontonasal syndrome	GPathogenic
Select item 374807	NM_004429.5(EFNB1):c.566T>C (p.Val189Ala)	EFNB1 (V189A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 374806	NM_004429.5(EFNB1):c.561del (p.Asn187fs)	EFNB1 (N187fs)	Deletion (frameshift variant)	Craniofrontonasal syndrome	GPathogenic
Select item 374805	NM_004429.5(EFNB1):c.466C>T (p.Arg156Cys)	EFNB1 (R156C)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GConflicting classifications of pathogenicity
Select item 374804	NM_004429.5(EFNB1):c.407C>T (p.Ser136Leu)	EFNB1 (S136L)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GLikely pathogenic
Select item 374803	NM_004429.5(EFNB1):c.271A>C (p.Thr91Pro)	EFNB1 (T91P)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GUncertain significance
Select item 100628	NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del	EFNB1	Deletion	Craniofrontonasal syndrome	GPathogenic
Select item 100627	NM_004429.5(EFNB1):c.496C>T (p.Gln166Ter)	EFNB1 (Q166*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 11715	NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter)	EFNB1 (R66*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 11714	NM_004429.5(EFNB1):c.110G>A (p.Trp37Ter)	EFNB1 (W37*)	Single nucleotide variant (nonsense)	Craniofrontonasal syndrome	GPathogenic
Select item 11713	NM_004429.5(EFNB1):c.109T>G (p.Trp37Gly)	EFNB1 (W37G)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GPathogenic
Select item 11712	NM_004429.5(EFNB1):c.474G>T (p.Met158Ile)	EFNB1 (M158I)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GPathogenic
Select item 11711	NM_004429.5(EFNB1):c.472A>G (p.Met158Val)	EFNB1 (M158V)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GPathogenic
Select item 11710	NM_004429.5(EFNB1):c.452G>T (p.Gly151Val)	EFNB1 (G151V)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome	GPathogenic
Select item 11709	NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser)	EFNB1 (G151S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11708	NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu)	EFNB1 (P54L)	Single nucleotide variant (missense variant)	Craniofrontonasal syndrome +1 more	GPathogenic/Likely pathogenic
Select item 11707	NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile)	EFNB1 (T111I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 11706	NG_008887.1:g.(6109_14537)_(16741_?)del	EFNB1	Deletion	Craniofrontonasal syndrome	GPathogenic

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Items: 41