ClinVar for MedGen (Select 75557) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3893112	NM_000557.5(GDF5):c.71C>G (p.Thr24Ser)	GDF5 (T24S)	Single nucleotide variant (missense variant)	Grebe syndrome +7 more	GUncertain significance
Select item 3764682	NM_000557.5(GDF5):c.784del (p.Gln262fs)	GDF5, GDF5-AS1 (Q262fs)	Deletion (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type +8 more	GLikely pathogenic
Select item 3250436	NM_000557.5(GDF5):c.50T>C (p.Leu17Pro)	GDF5 (L17P)	Single nucleotide variant (missense variant)	Grebe syndrome	GUncertain significance
Select item 3237536	NM_000557.5(GDF5):c.358C>T (p.Arg120Trp)	GDF5 (R120W)	Single nucleotide variant (missense variant)	Grebe syndrome +1 more	GUncertain significance
Select item 2631825	NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)	GDF5, GDF5-AS1 (I474F)	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type +9 more	GConflicting classifications of pathogenicity
Select item 2503431	NM_000557.5(GDF5):c.1299C>A (p.Cys433Ter)	GDF5, GDF5-AS1 (C433*)	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome	GLikely pathogenic
Select item 2143629	NM_000557.5(GDF5):c.519G>A (p.Met173Ile)	GDF5 (M173I)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 1802523	NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)	GDF5, GDF5-AS1 (E371*)	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome	GUncertain significance
Select item 1019956	NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup)	GDF5, GDF5-AS1	Duplication (non-coding transcript variant +1 more)	Osteoarthritis susceptibility 5 +9 more	GUncertain significance
Select item 992498	NM_000557.5(GDF5):c.404del (p.Pro135fs)	GDF5 (P135fs)	Deletion (frameshift variant)	Grebe syndrome	GPathogenic
Select item 898778	NM_000557.5(GDF5):c.-236G>A	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Brachydactyly +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, GDF5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	Multiple synostoses syndrome 2 +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)	Brachydactyly +4 more	GUncertain significance
Select item 895673	NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)	GDF5 (A69G)	Single nucleotide variant (missense variant)	Brachydactyly +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)	Brachydactyly +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 2C, Hunter-Thompson type +5 more	GUncertain significance
Select item 895466	NM_000557.5(GDF5):c.*259G>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +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)	Brachydactyly +5 more	GBenign/Likely benign
Select item 828159	NM_000557.5(GDF5):c.1081C>T (p.Arg361Cys)	GDF5, GDF5-AS1 (R361C)	Single nucleotide variant (non-coding transcript variant +1 more)	Grebe syndrome +1 more	GUncertain significance
Select item 817567	NM_000557.5(GDF5):c.788_810dup (p.Gly271Ter)	GDF5, GDF5-AS1 (G271*)	Duplication (non-coding transcript variant +1 more)	Grebe syndrome +9 more	GPathogenic/Likely pathogenic
Select item 623302	NM_000557.5(GDF5):c.1144del (p.Ala382fs)	GDF5, GDF5-AS1 (A382fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic/Likely pathogenic
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 338327	NM_000557.5(GDF5):c.-220C>T	GDF5, LOC109461476	Single nucleotide variant (5 prime UTR variant)	Acromesomelic dysplasia 2B +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)	Acromesomelic dysplasia 2C, Hunter-Thompson type +4 more	GBenign/Likely benign
Select item 338323	NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)	GDF5 (N56K)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 338316	NM_000557.5(GDF5):c.1128G>T (p.Gln376His)	GDF5, GDF5-AS1 (Q376H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GBenign
Select item 338315	NM_000557.5(GDF5):c.*166G>A	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	Acromesomelic dysplasia 2B +4 more	GUncertain significance
Select item 338314	NM_000557.5(GDF5):c.*193G>T	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 338313	NM_000557.5(GDF5):c.*335A>C	GDF5, GDF5-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GBenign
Select item 338312	NM_000557.5(GDF5):c.*387T>C	GDF5-AS1, GDF5	Single nucleotide variant (3 prime UTR variant)	Acromesomelic dysplasia 2C, Hunter-Thompson type +4 more	GBenign/Likely benign
Select item 338311	NM_000557.5(GDF5):c.*389C>T	GDF5-AS1, GDF5	Single nucleotide variant (3 prime UTR variant)	Acromesomelic dysplasia 2C, Hunter-Thompson type +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)	Acromesomelic dysplasia 2B +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)	Acromesomelic dysplasia 2B +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)	Acromesomelic dysplasia 2B +6 more	GBenign
Select item 256712	NM_000557.5(GDF5):c.-48=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration)	not specified +6 more	GBenign
Select item 193119	NM_000557.5(GDF5):c.462C>A (p.Pro154=)	GDF5	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 2C, Hunter-Thompson type +6 more	GBenign/Likely benign
Select item 40891	NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)	GDF5, GDF5-AS1 (R380Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Type A2 brachydactyly +2 more	GPathogenic/Likely pathogenic
Select item 8390	NM_000557.5(GDF5):c.-275=	GDF5, LOC109461476	Single nucleotide variant (no sequence alteration +1 more)	Grebe syndrome +5 more	GBenign
Select item 8380	NM_000557.5(GDF5):c.297dup (p.Arg100fs)	GDF5 (R100fs)	Duplication (frameshift variant)	Grebe syndrome	GPathogenic
Select item 8379	NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)	GDF5, GDF5-AS1 (C400Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Brachydactyly type A1C	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 55