C4551512[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030207	NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)	PIEZO1 (R2518H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 55806	NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	PIEZO1 (R2456H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1033325	NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)	PIEZO1 (F1930L)	Single nucleotide variant (missense variant)	PIEZO1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1032665	NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln)	PIEZO1 (R1926Q)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1030202	NM_001142864.4(PIEZO1):c.1020+14A>G	PIEZO1, HSALR1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1030208	NM_001142864.4(PIEZO1):c.849-5G>A	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance

ClinVar