"PIEZO2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560382	NM_001378183.1(PIEZO2):c.8535A>G (p.Lys2845=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GLikely benign
Select item 770802	NM_001378183.1(PIEZO2):c.8340C>T (p.Gly2780=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GBenign/Likely benign
Select item 718288	NM_001378183.1(PIEZO2):c.7977G>A (p.Ser2659=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GBenign/Likely benign
Select item 445793	NM_001378183.1(PIEZO2):c.7969G>A (p.Ala2657Thr)	PIEZO2 (A2544T +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2630096	NM_001378183.1(PIEZO2):c.7878T>G (p.Ser2626Arg)	PIEZO2 (S2513R +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 3047356	NM_001378183.1(PIEZO2):c.7092C>T (p.Tyr2364=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3034252	NM_001378183.1(PIEZO2):c.7002C>T (p.Thr2334=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3039612	NM_001378183.1(PIEZO2):c.6969C>A (p.Ala2323=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 2629047	NM_001378183.1(PIEZO2):c.6882G>A (p.Pro2294=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GUncertain significance
Select item 793790	NM_001378183.1(PIEZO2):c.6694+9C>T	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder +1 more	GLikely benign
Select item 2648584	NM_001378183.1(PIEZO2):c.6630G>A (p.Lys2210=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053016	NM_001378183.1(PIEZO2):c.6540C>T (p.Ser2180=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 436313	NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)	PIEZO2 (E2046Q +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2630864	NM_001378183.1(PIEZO2):c.6238A>G (p.Met2080Val)	PIEZO2 (M1967V +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 2630593	NM_001378183.1(PIEZO2):c.6125T>G (p.Val2042Gly)	PIEZO2 (V1929G +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 710091	NM_001378183.1(PIEZO2):c.6013G>A (p.Asp2005Asn)	PIEZO2 (D1892N +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +1 more	GLikely benign
Select item 1565009	NM_001378183.1(PIEZO2):c.5982C>T (p.Ser1994=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2635957	NM_001378183.1(PIEZO2):c.5620C>T (p.Arg1874Cys)	PIEZO2 (R1761C +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +1 more	GUncertain significance
Select item 3047046	NM_001378183.1(PIEZO2):c.5130C>T (p.Thr1710=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 2635171	NM_001378183.1(PIEZO2):c.5096T>C (p.Ile1699Thr)	PIEZO2 (I1641T +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 638378	NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn)	PIEZO2 (D1636N +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2434824	NM_001378183.1(PIEZO2):c.4537C>G (p.Gln1513Glu)	PIEZO2 (Q1488E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632464	NM_001378183.1(PIEZO2):c.4094A>T (p.Lys1365Met)	PIEZO2 (K1340M +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 727855	NM_001378183.1(PIEZO2):c.3930C>T (p.Tyr1310=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder +1 more	GLikely benign
Select item 757398	NM_001378183.1(PIEZO2):c.3907G>C (p.Asp1303His)	PIEZO2 (D1278H +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2711584	NM_001378183.1(PIEZO2):c.3840A>G (p.Ala1280=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3034053	NM_001378183.1(PIEZO2):c.3157G>T (p.Glu1053Ter)	PIEZO2 (E1028* +1 more)	Single nucleotide variant (nonsense)	PIEZO2-related disorder	GLikely pathogenic
Select item 3051703	NM_001378183.1(PIEZO2):c.3123+9C>T	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder	GLikely benign
Select item 741137	NM_001378183.1(PIEZO2):c.3000C>T (p.Tyr1000=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2629536	NM_001378183.1(PIEZO2):c.2996C>T (p.Pro999Leu)	PIEZO2 (P974L +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 444424	NM_001378183.1(PIEZO2):c.2755G>A (p.Glu919Lys)	PIEZO2 (E894K +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2387383	NM_001378183.1(PIEZO2):c.2449G>C (p.Asp817His)	PIEZO2 (D817H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066698	NM_001378183.1(PIEZO2):c.1883-8A>T	PIEZO2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3034482	NM_001378183.1(PIEZO2):c.1882+10T>C	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder	GBenign
Select item 1324903	NM_001378183.1(PIEZO2):c.1661T>A (p.Leu554Ter)	PIEZO2 (L554*)	Single nucleotide variant (nonsense)	PIEZO2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 493230	NM_001378183.1(PIEZO2):c.1261G>C (p.Gly421Arg)	PIEZO2 (G421R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2629948	NM_001378183.1(PIEZO2):c.1159A>T (p.Ser387Cys)	PIEZO2 (S387C)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 719400	NM_001378183.1(PIEZO2):c.704-3T>C	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder +1 more	GBenign/Likely benign
Select item 2630260	NM_001378183.1(PIEZO2):c.341C>G (p.Ala114Gly)	PIEZO2 (A114G)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 3029466	NM_022068.3(PIEZO2):c.287delG	PIEZO2	Deletion	PIEZO2-related disorder	GLikely pathogenic
Select item 2630735	NM_001378183.1(PIEZO2):c.235A>G (p.Ile79Val)	PIEZO2 (I79V)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 2630354	NM_001378183.1(PIEZO2):c.170_174dup (p.Leu59fs)	PIEZO2 (L59fs)	Duplication (frameshift variant)	PIEZO2-related disorder	GLikely pathogenic

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Items: 42