Related gene-specific medical variations for Gene (Select 9651) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638081	NM_014638.4(PLCH2):c.2484G>A (p.Pro828=)	LOC126805580, PLCH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2561951	NM_014638.4(PLCH2):c.2550G>C (p.Gln850His)	LOC126805580, PLCH2 (Q823H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320966	NM_014638.4(PLCH2):c.2483C>T (p.Pro828Leu)	LOC126805580, PLCH2 (P828L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996853	NM_014638.4(PLCH2):c.15G>A (p.Trp5Ter)	PLCH2 (W5*)	Single nucleotide variant (5 prime UTR variant +2 more)	See cases	GUncertain significance
Select item 735787	NM_014638.4(PLCH2):c.2581+9G>A	LOC126805580, PLCH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711257	NM_014638.4(PLCH2):c.2604A>G (p.Glu868=)	LOC126805580, PLCH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711256	NM_014638.4(PLCH2):c.2601A>G (p.Leu867=)	LOC126805580, PLCH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 156726	NC_000001.11:g.2427505_2438059dup	PLCH2	Duplication	Small for gestational age	Gnot provided
Select item 156725	NC_000001.11:g.2420707_2434877dup	PLCH2	Duplication	Gestational diabetes mellitus uncontrolled	Gnot provided

ClinVar