"PreventionGenetics, part of Exact Sciences"[submitter] AND "PORCN"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056713	NM_203475.3(PORCN):c.231G>A (p.Leu77=)	PORCN	Single nucleotide variant (synonymous variant)	PORCN-related disorder	GLikely benign
Select item 2631169	NM_203475.3(PORCN):c.661del (p.Leu221fs)	PORCN (L150fs +1 more)	Deletion (frameshift variant)	PORCN-related disorder	GPathogenic
Select item 589007	NM_203475.3(PORCN):c.930T>G (p.Ser310=)	PORCN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 2633672	NM_203475.3(PORCN):c.983C>T (p.Ser328Leu)	PORCN (S246L +4 more)	Single nucleotide variant (missense variant)	PORCN-related disorder +1 more	GUncertain significance
Select item 3052914	NM_203475.3(PORCN):c.1076_1077dup (p.Val360fs)	PORCN (V278fs +4 more)	Duplication (frameshift variant)	PORCN-related disorder	GPathogenic
Select item 588092	NM_203475.3(PORCN):c.1274C>T (p.Thr425Ile)	PORCN (T420I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3031345	NM_203475.3(PORCN):c.1315_1316del (p.Trp439fs)	PORCN (W357fs +4 more)	Deletion (frameshift variant)	PORCN-related disorder	GLikely pathogenic

ClinVar