"Genetic Services Laboratory, University of Chicago"[submitter] AND "G - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338323	NM_000273.3(GPR143):c.886-2A>T	GPR143	Single nucleotide variant (splice acceptor variant)	GPR143-related condition +1 more	GPathogenic
Select item 1375183	NM_000273.3(GPR143):c.682C>T (p.Gln228Ter)	GPR143 (Q228*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 435351	NM_000273.3(GPR143):c.583T>C (p.Tyr195His)	GPR143 (Y195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435349	NM_000273.3(GPR143):c.570C>T (p.His190=)	GPR143	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 98632	NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)	GPR143 (Q124R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1338413	NM_000273.3(GPR143):c.256_257delinsA (p.Val86fs)	GPR143 (V86fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1155555	NM_000273.3(GPR143):c.251-9C>A	GPR143	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 435350	NM_000273.3(GPR143):c.162C>T (p.Pro54=)	GPR143	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

ClinVar