ClinVar for MedGen (Select 373112) - ClinVar - NCBI

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

Links from MedGen

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Short philtrum +28 more	GUncertain significance
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn		Translocation	Athetosis +14 more	GUncertain significance
Select item 267869	46;XX;t(6;13)(q21;q32)dn		Translocation	Anteverted nares +9 more	GLikely pathogenic
Select item 267832	46;XX;t(1;5)(p31;q33)dn		Translocation	Short philtrum +13 more	GLikely pathogenic
Select item 267821	46;XX;t(3;12)(q13.2;q14)dn		Translocation	Craniosynostosis syndrome +16 more	GPathogenic
Select item 267806	46;XX;ins(1;2)(p34.2;q22q24)dn		Translocation	Clinodactyly of the 5th finger +5 more	GUncertain significance
Select item 267799	46;XY;t(3;17)(p14.3;q24.3)dn		Translocation	Abnormality of the tongue +15 more	GLikely pathogenic
Select item 161122	NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe)	ATP1A3 (S137F +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 31946	NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)	ABCC9 (R1154W +1 more)	Single nucleotide variant (missense variant)	Abnormality of the face +18 more	GPathogenic/Likely pathogenic
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