C4225184[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 727409	NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 1328215	NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)	PIEZO1	Duplication (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 726258	NM_001142864.4(PIEZO1):c.7317-5C>T	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 780318	NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618281	NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)	PIEZO1 (T1851M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1190824	NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)	PIEZO1 (T1732M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 712740	NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=)	PIEZO1	Single nucleotide variant (synonymous variant)	Lymphatic malformation 6 +2 more	GLikely benign
Select item 727410	NM_001142864.4(PIEZO1):c.4955+3G>A	PIEZO1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 727411	NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1350725	NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])	PIEZO1	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 780319	NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618788	NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618273	NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 727413	NM_001142864.4(PIEZO1):c.2664+7del	HSALR1, PIEZO1	Deletion (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 811773	NM_001142864.4(PIEZO1):c.2330-16C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 712742	NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)	HSALR1, LOC130059751 +1 more	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 440057	NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 709313	NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign