ClinVar for MedGen (Select 18222) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805882	NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)	LRP5 (L540F)	Single nucleotide variant (5 prime UTR variant +1 more)	Diaphyseal dysplasia +6 more	GUncertain significance
Select item 598969	NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)	ALG13 (I17N)	Single nucleotide variant (missense variant +2 more)	Microcephaly +5 more	GLikely pathogenic
Select item 374149	NM_000088.4(COL1A1):c.804+1G>C	COL1A1, LOC126862586	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta with normal sclerae, dominant form +4 more	GPathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic
Select item 48648	NM_032415.7(CARD11):c.367G>A (p.Gly123Ser)	CARD11, CARD11-AS1 (G123S)	Single nucleotide variant (missense variant)	BENTA disease +5 more	GPathogenic
Select item 17326	NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser)	COL1A1 (G593S)	Single nucleotide variant (missense variant)	Abnormality of the skeletal system +28 more	GPathogenic/Likely pathogenic

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