ClinVar for MedGen (Select 346432) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320036	NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs)	ANKRD36 (Q1911fs)	Duplication (frameshift variant)	Oligosynaptic infertility +1 more	GBenign
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 898778	NM_000557.5(GDF5):c.-236G>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GUncertain significance
Select item 897561	NM_000557.5(GDF5):c.57G>T (p.Leu19=)	GDF5	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 897084	NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)	GDF5 (G61E)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 2 +4 more	GUncertain significance
Select item 897014	NM_000557.5(GDF5):c.483G>A (p.Pro161=)	GDF5	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 896867	NM_000557.5(GDF5):c.1374C>G (p.Pro458=)	GDF5-AS1, GDF5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 896024	NM_000557.5(GDF5):c.-134C>G	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Acromesomelic dysplasia 2B +4 more	GConflicting classifications of pathogenicity
Select item 895743	NM_000557.5(GDF5):c.-97T>C	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GUncertain significance
Select item 895673	NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)	GDF5 (A69G)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 2B +4 more	GConflicting classifications of pathogenicity
Select item 895672	NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)	GDF5 (A76S)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 2 +4 more	GUncertain significance
Select item 895610	NM_000557.5(GDF5):c.506C>A (p.Pro169His)	GDF5 (P169H)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 2 +4 more	GUncertain significance
Select item 895609	NM_000557.5(GDF5):c.631+6G>A	GDF5	Single nucleotide variant (intron variant)	Multiple synostoses syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 895535	NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)	GDF5, GDF5-AS1 (N356S)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2B +5 more	GUncertain significance
Select item 895466	NM_000557.5(GDF5):c.*259G>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 895403	NM_000557.5(GDF5):c.*468G>A	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +5 more	GBenign/Likely benign
Select item 595155	NM_000557.5(GDF5):c.25T>C (p.Phe9Leu)	GDF5 (F9L)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 2C, Hunter-Thompson type +5 more	GUncertain significance
Select item 446284	NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)	BMPR1B (R214S +1 more)	Single nucleotide variant (missense variant)	Brachydactyly type A1D +3 more	GPathogenic
Select item 430720	NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)	ANK2, LOC126807137 (V2651L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 338327	NM_000557.5(GDF5):c.-220C>T	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Brachydactyly +4 more	GUncertain significance
Select item 338326	NM_000557.5(GDF5):c.-135G>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 338325	NM_000557.5(GDF5):c.-39C>T	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GBenign/Likely benign
Select item 338324	NM_000557.5(GDF5):c.-30C>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Acromesomelic dysplasia +4 more	GUncertain significance
Select item 338323	NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)	GDF5 (N56K)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 338322	NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)	GDF5 (A117S)	Single nucleotide variant (missense variant)	Brachydactyly +5 more	GBenign/Likely benign
Select item 338321	NM_000557.5(GDF5):c.497C>A (p.Pro166His)	GDF5 (P166H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 338320	NM_000557.5(GDF5):c.855C>T (p.Gly285=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome +6 more	GConflicting classifications of pathogenicity
Select item 338319	NM_000557.5(GDF5):c.953G>C (p.Arg318Pro)	GDF5, GDF5-AS1 (R318P)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple synostoses syndrome 2 +5 more	GBenign/Likely benign
Select item 338318	NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)	GDF5, GDF5-AS1 (R334G)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly +5 more	GBenign/Likely benign
Select item 338317	NM_000557.5(GDF5):c.1104C>T (p.Thr368=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple synostoses syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 338316	NM_000557.5(GDF5):c.1128G>T (p.Gln376His)	GDF5-AS1, GDF5 (Q376H)	Single nucleotide variant (non-coding transcript variant +1 more)	Multiple synostoses syndrome 2 +5 more	GBenign
Select item 338315	NM_000557.5(GDF5):c.*166G>A	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	GUncertain significance
Select item 338314	NM_000557.5(GDF5):c.*193G>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +5 more	GBenign
Select item 338313	NM_000557.5(GDF5):c.*335A>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +5 more	GBenign
Select item 338312	NM_000557.5(GDF5):c.*387T>C	GDF5-AS1, GDF5	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	GBenign/Likely benign
Select item 338311	NM_000557.5(GDF5):c.*389C>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Multiple synostoses syndrome 2 +4 more	GBenign/Likely benign
Select item 338310	NM_000557.5(GDF5):c.*425T>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 338309	NM_000557.5(GDF5):c.*520T>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +4 more	GBenign/Likely benign
Select item 284616	NM_000557.5(GDF5):c.652A>C (p.Arg218=)	GDF5	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 256716	NM_000557.5(GDF5):c.826= (p.Ala276=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +6 more	GBenign
Select item 256713	NM_000557.5(GDF5):c.1017= (p.Lys339=)	GDF5, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly +6 more	GBenign
Select item 256712	NM_000557.5(GDF5):c.-48=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration)	Grebe syndrome +6 more	GBenign
Select item 193119	NM_000557.5(GDF5):c.462C>A (p.Pro154=)	GDF5	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 8394	NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)	GDF5, GDF5-AS1 (P436T)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2B	GPathogenic
Select item 8393	NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)	GDF5, GDF5-AS1 (R378Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2B	GPathogenic
Select item 8390	NM_000557.5(GDF5):c.-275=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration +1 more)	Acromesomelic dysplasia 2B +5 more	GBenign
Select item 8387	NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]	GDF5, GDF5-AS1 (S439T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Acromesomelic dysplasia 2B	GPathogenic
Select item 8381	NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	GDF5, GDF5-AS1 (L441P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic

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Items: 48