C4551950[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585378	NM_003737.4(DCHS1):c.5552A>G (p.His1851Arg)	DCHS1 (H1851R)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1	GUncertain significance
Select item 451612	NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln)	DCHS1 (R235Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2585379	NM_003737.4(DCHS1):c.395G>A (p.Arg132Gln)	DCHS1 (R132Q)	Single nucleotide variant (missense variant)	Van Maldergem syndrome 1	GUncertain significance

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