ClinVar for MedGen (Select 867418) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1488079	NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)	COL1A2 (G625C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely pathogenic
Select item 1356178	NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg)	PKDCC (L262R)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +1 more	GConflicting classifications of pathogenicity
Select item 1180841	NM_001378183.1(PIEZO2):c.8109T>A (p.Tyr2703Ter)	PIEZO2 (Y2590* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system	GPathogenic
Select item 1180839	NM_000512.5(GALNS):c.616A>C (p.Thr206Pro)	GALNS (T206P +2 more)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system	GLikely pathogenic
Select item 1180714	NM_000095.3(COMP):c.1403G>T (p.Cys468Phe)	COMP (C468F)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system	GPathogenic
Select item 1180708	NM_000127.3(EXT1):c.1150A>T (p.Arg384Ter)	EXT1 (R384*)	Single nucleotide variant (nonsense)	Abnormality of the skeletal system	GLikely pathogenic
Select item 1180702	NM_001159773.2(CANT1):c.493A>G (p.Met165Val)	CANT1 (M165V)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system	GLikely pathogenic
Select item 1180687	NM_005807.6(PRG4):c.2763_2766del (p.Arg922fs)	PRG4 (R788fs +4 more)	Deletion (frameshift variant)	Abnormality of the skeletal system	GLikely pathogenic
Select item 1180675	NM_002615.7(SERPINF1):c.205C>T (p.Arg69Ter)	LOC130059891, SERPINF1 (R69*)	Single nucleotide variant (nonsense +1 more)	Abnormality of the skeletal system	GLikely pathogenic
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981661	NM_152753.4(SCUBE3):c.2599+2T>C	SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Short stature +4 more	GPathogenic/Likely pathogenic
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormal facial shape +3 more	GPathogenic
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	Short stature +3 more	GPathogenic
Select item 981657	NM_152753.4(SCUBE3):c.829+3_952+2del	SCUBE3, LOC123620094	Deletion (splice acceptor variant +1 more)	Short stature +3 more	GPathogenic
Select item 981656	NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp)	SCUBE3 (G203D +1 more)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 978468	NM_014845.6(FIG4):c.2432C>G (p.Ser811Ter)	FIG4 (S811*)	Single nucleotide variant (nonsense)	Failure to thrive +4 more	GLikely pathogenic
Select item 975009	NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)	TCIRG1 (D219N +2 more)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +3 more	GLikely pathogenic
Select item 870113	NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)	COL1A2 (G304S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type I +4 more	GPathogenic/Likely pathogenic
Select item 850869	NM_004958.4(MTOR):c.5345A>G (p.His1782Arg)	MTOR (H1782R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649051	NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	CTSK (C318Y)	Single nucleotide variant (missense variant)	Pyknodysostosis +2 more	GPathogenic/Likely pathogenic
Select item 522782	NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp)	FLNB (G1691D +1 more)	Single nucleotide variant (missense variant)	Larsen syndrome +2 more	GPathogenic/Likely pathogenic
Select item 496615	NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	COL1A2 (G199D)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +1 more	GLikely pathogenic
Select item 449001	NM_001844.5(COL2A1):c.905C>T (p.Ala302Val)	COL2A1 (A302V +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis type II +18 more	GPathogenic/Likely pathogenic
Select item 438670	NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	CLCN7 (R286Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 438659	NM_021939.4(FKBP10):c.831dup (p.Gly278fs)	FKBP10 (G278fs)	Duplication (frameshift variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 425589	NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser)	COL1A1 (G1169S)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 267805	46;XY;t(7;12)(q21.13;q24)dn		Translocation	Intellectual disability +3 more	GUncertain significance
Select item 196579	NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)	SLC39A13 (T133M)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +10 more	GConflicting classifications of pathogenicity
Select item 183285	NM_018896.5(CACNA1G):c.664TTC[1] (p.Phe223del)	CACNA1G (F223del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 37307	NM_006129.5(BMP1):c.34G>C (p.Gly12Arg)	BMP1, LOC129999976 (G12R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 35920	NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter)	COL1A1 (R1026*)	Single nucleotide variant (nonsense)	Infantile cortical hyperostosis +10 more	GPathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Skeletal dysplasia +28 more	GPathogenic/Likely pathogenic

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Items: 34