"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206021	NM_001142864.4(PIEZO1):c.7550C>G (p.Thr2517Ser)	PIEZO1 (T2517S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1206290	NM_001142864.4(PIEZO1):c.7091A>G (p.Asn2364Ser)	PIEZO1 (N2364S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 721802	NM_001142864.4(PIEZO1):c.6891C>T (p.Ala2297=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1205971	NM_001142864.4(PIEZO1):c.6781A>G (p.Ser2261Gly)	PIEZO1 (S2261G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 618785	NM_001142864.4(PIEZO1):c.6678C>T (p.Ser2226=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 811669	NM_001142864.4(PIEZO1):c.6205G>A (p.Val2069Met)	PIEZO1 (V2069M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 773308	NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys)	PIEZO1 (E1910K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1206349	NM_001142864.4(PIEZO1):c.5464G>A (p.Glu1822Lys)	PIEZO1 (E1822K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 995654	NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala)	PIEZO1 (E1764A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 773309	NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1206130	NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser)	PIEZO1 (P1657S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1206303	NM_001142864.4(PIEZO1):c.4955+8C>T	PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder +1 more	GBenign/Likely benign
Select item 724916	NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His)	PIEZO1 (R1527H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 790426	NM_001142864.4(PIEZO1):c.4495+4C>T	PIEZO1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 1206037	NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile)	HSALR1, PIEZO1 (V499I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1206086	NM_001142864.4(PIEZO1):c.954C>T (p.Val318=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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

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Items: 21