"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994359	NM_003737.4(DCHS1):c.9506G>A (p.Trp3169Ter)	DCHS1 (W3169*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 994360	NM_003737.4(DCHS1):c.6403G>A (p.Glu2135Lys)	DCHS1 (E2135K)	Single nucleotide variant (missense variant)	not provided	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

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ClinVar