"Invitae"[submitter] AND "PLCH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774851	NM_014996.4(PLCH1):c.4831C>A (p.Pro1611Thr)	PLCH1 (P1610T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 711902	NM_014996.4(PLCH1):c.3840T>C (p.Asp1280=)	PLCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 714211	NM_014996.4(PLCH1):c.3471C>A (p.Asp1157Glu)	PLCH1 (D1156E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 774172	NM_014996.4(PLCH1):c.3354C>T (p.Ser1118=)	PLCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 774852	NM_014996.4(PLCH1):c.3313C>T (p.Pro1105Ser)	PLCH1 (P1113S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788519	NM_014996.4(PLCH1):c.2620-461A>T	PLCH1, PLCH1-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767940	NM_014996.4(PLCH1):c.1705-5G>A	PLCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1400969	NC_000003.11:g.(?_154801957)_(155551394_?)dup	C3orf33, MME +2 more	Duplication	not provided	GUncertain significance

ClinVar