ClinVar for MedGen (Select 90977) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827845	NM_005450.6(NOG):c.64dup (p.Ala22fs)	NOG (A22fs)	Duplication (frameshift variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 375295	NM_005450.6(NOG):c.611G>A (p.Arg204Gln)	NOG (R204Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338324	NM_000557.5(GDF5):c.-30C>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Symphalangism-brachydactyly syndrome +4 more	GUncertain significance
Select item 311469	NM_002010.3(FGF9):c.*2497del	FGF9	Deletion (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GLikely benign
Select item 311468	NM_002010.3(FGF9):c.*2463dup	FGF9	Duplication (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311465	NM_002010.3(FGF9):c.*2210del	FGF9	Deletion (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311458	NM_002010.3(FGF9):c.*1507A>G	FGF9	Single nucleotide variant (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311445	NM_002010.3(FGF9):c.*479CTTA[1]	FGF9	Microsatellite (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311443	NM_002010.3(FGF9):c.*435C>T	FGF9	Single nucleotide variant (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311437	NM_002010.3(FGF9):c.*276GT[14]	FGF9	Microsatellite (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311436	NM_002010.3(FGF9):c.*276GT[19]	FGF9	Microsatellite (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311435	NM_002010.3(FGF9):c.*276GT[16]	FGF9	Microsatellite (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311434	NM_002010.3(FGF9):c.274_275del	FGF9	Deletion (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311433	NM_002010.3(FGF9):c.274_277del	FGF9	Deletion (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311432	NM_002010.3(FGF9):c.274_279del	FGF9	Deletion (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311430	NM_002010.3(FGF9):c.*266GT[5]	FGF9	Microsatellite (3 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311420	NM_002010.3(FGF9):c.-37dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311418	NM_002010.3(FGF9):c.-116dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311417	NM_002010.3(FGF9):c.-118_-117insC	FGF9	Insertion (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GLikely benign
Select item 311416	NM_002010.3(FGF9):c.-118_-117dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GBenign
Select item 311415	NM_002010.3(FGF9):c.-117dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GBenign
Select item 311411	NM_002010.3(FGF9):c.-335del	FGF9	Deletion (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311407	NM_002010.3(FGF9):c.-585dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 30290	NM_005450.6(NOG):c.696C>G (p.Cys232Trp)	NOG (C232W)	Single nucleotide variant (missense variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 6707	NM_005450.6(NOG):c.615G>C (p.Trp205Cys)	NOG (W205C)	Single nucleotide variant (missense variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 6706	NM_005450.6(NOG):c.614G>A (p.Trp205Ter)	NOG (W205*)	Single nucleotide variant (nonsense)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 6701	NM_005450.6(NOG):c.58del (p.Leu20fs)	NOG (L20fs)	Deletion (frameshift variant)	Symphalangism-brachydactyly syndrome	GPathogenic
Select item 6693	NM_005450.6(NOG):c.649T>G (p.Trp217Gly)	NOG (W217G)	Single nucleotide variant (missense variant)	Symphalangism-brachydactyly syndrome	GPathogenic

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Items: 28