ClinVar for MedGen (Select 91012) - ClinVar - NCBI

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

Links from MedGen

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559505	NM_018413.6(CHST11):c.482_496del (p.Leu161_Asn165del)	CHST11	Deletion (inframe_deletion)	Osteochondrodysplasia, brachydactyly, and overlapping malformed digits +5 more	GConflicting classifications of pathogenicity
Select item 363410	NM_017813.5(BPNT2):c.-69CGG[7]	BPNT2, LOC130000433	Microsatellite (5 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363398	NM_017813.5(BPNT2):c.286_288delinsTATGAGTCACCATTGACTCATTGTTATGAGT	BPNT2	Indel (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363395	NM_017813.5(BPNT2):c.*413TC[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363394	NM_017813.5(BPNT2):c.*501TGT[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 363390	NM_017813.5(BPNT2):c.*980del	BPNT2	Deletion (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 363386	NM_017813.5(BPNT2):c.1127_1133del	BPNT2	Deletion (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363385	NM_017813.5(BPNT2):c.*1220G>A	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363383	NM_017813.5(BPNT2):c.*1313del	BPNT2	Deletion (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363366	NM_017813.5(BPNT2):c.*2320ATA[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363364	NM_017813.5(BPNT2):c.*2417C>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363347	NM_017813.5(BPNT2):c.*3811GTCT[1]	BPNT2	Microsatellite (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363345	NM_017813.5(BPNT2):c.4123_4125del	BPNT2	Deletion (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 363336	NM_017813.5(BPNT2):c.*5142G>T	BPNT2	Single nucleotide variant (3 prime UTR variant)	Chondrodysplasia	GUncertain significance
Select item 363324	NM_017813.5(BPNT2):c.*5689dup	BPNT2	Duplication (3 prime UTR variant)	Chondrodysplasia	GLikely benign
Select item 345603	NM_000316.3(PTH1R):c.*127dup	PTH1R	Duplication (3 prime UTR variant)	not provided +2 more	GBenign
Select item 345592	NM_000316.3(PTH1R):c.1050-3dup	PTH1R	Duplication (intron variant)	PTH1R-related condition +7 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