ClinVar for MedGen (Select 609408) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689803	NM_000977.4(RPL13):c.548G>T (p.Arg183Leu)	RPL13 (R183L +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia	GPathogenic
Select item 689802	NM_000977.4(RPL13):c.477+1G>A	RPL13	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	GPathogenic/Likely pathogenic
Select item 689801	NM_000977.4(RPL13):c.477+2T>C	RPL13	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type +1 more	GPathogenic
Select item 689800	NM_000977.4(RPL13):c.477+1G>T	RPL13	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	GPathogenic
Select item 301969	NM_002427.4(MMP13):c.374_376dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 301963	NM_002427.4(MMP13):c.*849dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 301961	NM_002427.4(MMP13):c.*997dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 293388	NM_006182.4(DDR2):c.187_188del	DDR2	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 293387	NM_006182.4(DDR2):c.*188del	DDR2	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 293386	NM_006182.4(DDR2):c.*171AC[1]	DDR2	Microsatellite (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia	GUncertain significance