C0036391[trait identifier] AND "Pathology and Clinical Laboratory Medi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499769	NM_005529.7(HSPG2):c.11208-7G>A	HSPG2	Single nucleotide variant (intron variant)	Schwartz-Jampel syndrome +2 more	GConflicting classifications of pathogenicity
Select item 982057	NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)	HSPG2 (G3324R +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome type 1 +3 more	GLikely pathogenic