"Clinical Genetics, Academic Medical Center"[submitter] AND "HSALR1"[g - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994443	NM_001142864.4(PIEZO1):c.2991+12A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618273	NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +3 more	GBenign/Likely benign
Select item 440059	NM_001142864.4(PIEZO1):c.2790+10A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994444	NM_001142864.4(PIEZO1):c.2664+12C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 242664	NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln)	HSALR1, PIEZO1 (R808Q)	Single nucleotide variant (missense variant)	PIEZO1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 440060	NM_001142864.4(PIEZO1):c.2361G>C (p.Arg787=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 242665	NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)	HSALR1, PIEZO1 (G782S)	Single nucleotide variant (missense variant)	PIEZO1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1206134	NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup)	HSALR1, PIEZO1	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 440061	NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)	HSALR1, PIEZO1 (E756del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 440062	NM_001142864.4(PIEZO1):c.1674C>T (p.Pro558=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440056	NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 993796	NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440054	NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr)	HSALR1, PIEZO1 (S338Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 778649	NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His)	HSALR1, PIEZO1 (R333H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 714004	NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 810893	NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=)	PIEZO1, HSALR1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign