C0036391[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788284	NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)	HSPG2, LDLRAD2 (R4296Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1029973	NM_005529.7(HSPG2):c.9958T>C (p.Cys3320Arg)	HSPG2 (C3321R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GLikely pathogenic
Select item 1029970	NM_005529.7(HSPG2):c.6545A>C (p.Gln2182Pro)	HSPG2, LOC126805655 (Q2183P +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +1 more	GUncertain significance
Select item 1029969	NM_005529.7(HSPG2):c.6520G>A (p.Val2174Met)	HSPG2, LOC126805655 (V2174M +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome	GUncertain significance
Select item 197080	NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)	HSPG2 (T1639M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209161	NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser)	HSPG2 (N786S +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +3 more	GConflicting classifications of pathogenicity
Select item 295880	NM_005529.7(HSPG2):c.2335C>T (p.His779Tyr)	HSPG2 (H779Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity

ClinVar