ClinVar for MedGen (Select 350590) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377359	NM_000557.5(GDF5):c.490_491dup (p.Pro165fs)	GDF5 (P165fs)	Duplication (frameshift variant)	Brachydactyly type C	GPathogenic
Select item 1074614	NM_000557.5(GDF5):c.992del (p.Arg331fs)	GDF5, GDF5-AS1 (R331fs)	Deletion (non-coding transcript variant +1 more)	Brachydactyly type C +1 more	GPathogenic
Select item 1019956	NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	GDF5, GDF5-AS1	Duplication (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type +9 more	GUncertain significance
Select item 997971	NM_000557.5(GDF5):c.349del (p.Ala117fs)	GDF5 (A117fs)	Deletion (frameshift variant)	Brachydactyly type C	GPathogenic
Select item 265991	NM_000557.5(GDF5):c.1397G>A (p.Cys466Tyr)	GDF5-AS1, GDF5 (C466Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type C	GLikely pathogenic
Select item 8391	NM_000557.5(GDF5):c.1461T>G (p.Tyr487Ter)	GDF5, GDF5-AS1 (Y487*)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type C	GPathogenic
Select item 8385	NM_000557.5(GDF5):c.205dup (p.Ala69fs)	GDF5 (A69fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 8384	NM_000557.5(GDF5):c.517A>G (p.Met173Val)	GDF5 (M173V)	Single nucleotide variant (missense variant)	Brachydactyly type C	GPathogenic
Select item 8382	GDF5, 23-BP INS, NT811	GDF5	Insertion	Brachydactyly type C	GPathogenic
Select item 8378	NM_000557.5(GDF5):c.901C>T (p.Arg301Ter)	GDF5, GDF5-AS1 (R301*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic