ClinVar for MedGen (Select 66314) - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236262	NM_001378183.1(PIEZO2):c.350_351del (p.Gly117fs)	PIEZO2 (G117fs)	Deletion (frameshift variant)	Gordon syndrome	GLikely pathogenic
Select item 3236261	NM_001378183.1(PIEZO2):c.1484T>G (p.Phe495Cys)	PIEZO2 (F495C)	Single nucleotide variant (missense variant)	Gordon syndrome	GLikely pathogenic
Select item 2585600	NM_001378183.1(PIEZO2):c.3193G>T (p.Asp1065Tyr)	PIEZO2 (D1065Y +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 2584961	NM_001378183.1(PIEZO2):c.8140C>T (p.Pro2714Ser)	PIEZO2 (P2714S +2 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 2524509	NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)	PIEZO2 (F2346C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1696707	NM_001378183.1(PIEZO2):c.71C>T (p.Ala24Val)	PIEZO2 (A24V)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +2 more	GUncertain significance
Select item 1282852	NM_001378183.1(PIEZO2):c.4514+32C>T	PIEZO2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1282729	NM_001378183.1(PIEZO2):c.7952+33C>T	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign
Select item 1281152	NM_001378183.1(PIEZO2):c.1379-47T>C	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign
Select item 1265456	NM_001378183.1(PIEZO2):c.2170-19_2170-18del	PIEZO2	Deletion (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign
Select item 1262523	NM_001378183.1(PIEZO2):c.7953-9del	PIEZO2	Deletion (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 1252129	NM_001378183.1(PIEZO2):c.1528-41T>C	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign
Select item 1249835	NM_001378183.1(PIEZO2):c.2947-36G>A	PIEZO2	Single nucleotide variant (intron variant)	Gordon syndrome +4 more	GBenign
Select item 1249490	NM_001378183.1(PIEZO2):c.2170-18del	PIEZO2	Deletion (intron variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +4 more	GBenign/Likely benign
Select item 1238401	NM_001378183.1(PIEZO2):c.7349+31A>C	PIEZO2	Single nucleotide variant (intron variant)	Gordon syndrome +4 more	GBenign
Select item 1234420	NM_001378183.1(PIEZO2):c.2492+48del	PIEZO2	Deletion (intron variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +4 more	GBenign
Select item 1227589	NM_001378183.1(PIEZO2):c.6976-47G>C	PIEZO2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1225365	NM_001378183.1(PIEZO2):c.3451-28T>C	PIEZO2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1198140	NM_001378183.1(PIEZO2):c.3757+13A>G	PIEZO2	Single nucleotide variant (intron variant)	Gordon syndrome +4 more	GBenign/Likely benign
Select item 1174356	NM_001378183.1(PIEZO2):c.7190+29A>G	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign
Select item 1033998	NM_001378183.1(PIEZO2):c.8081+7G>C	PIEZO2	Single nucleotide variant (intron variant)	Gordon syndrome	GUncertain significance
Select item 1033997	NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter)	PIEZO2 (E2490* +1 more)	Single nucleotide variant (nonsense)	Gordon syndrome +1 more	GPathogenic
Select item 1033996	NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs)	PIEZO2 (T2205fs +1 more)	Deletion (frameshift variant)	Gordon syndrome +1 more	GPathogenic
Select item 1028750	NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu)	PIEZO2 (K2796E +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome	GUncertain significance
Select item 998013	NM_001378183.1(PIEZO2):c.771G>A (p.Trp257Ter)	PIEZO2 (W257*)	Single nucleotide variant (nonsense)	Gordon syndrome	GLikely pathogenic
Select item 976307	NM_001378183.1(PIEZO2):c.1741G>T (p.Gly581Ter)	PIEZO2 (G581*)	Single nucleotide variant (nonsense)	Gordon syndrome	GLikely pathogenic
Select item 631524	NM_001378183.1(PIEZO2):c.8492G>A (p.Arg2831Gln)	PIEZO2 (R2718Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 548506	NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met)	PIEZO2 (T1358M +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +2 more	GUncertain significance
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 261527	NM_001378183.1(PIEZO2):c.7349+7C>T	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 261526	NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=)	PIEZO2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 261525	NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 261519	NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln)	PIEZO2 (E1898Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 261518	NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 261514	NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 261510	NM_001378183.1(PIEZO2):c.4708+18C>T	PIEZO2	Single nucleotide variant (intron variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more	GBenign
Select item 261509	NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 261508	NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile)	PIEZO2 (V1354I +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +5 more	GBenign
Select item 261507	NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=)	PIEZO2	Single nucleotide variant (synonymous variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more	GBenign
Select item 261505	NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 261504	NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=)	PIEZO2	Single nucleotide variant (synonymous variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +5 more	GBenign
Select item 261503	NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=)	PIEZO2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 235839	NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)	PIEZO2 (E2727del +1 more)	Microsatellite (inframe_deletion)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +2 more	GPathogenic
Select item 235234	NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe)	PIEZO2 (S1289F +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +4 more	GBenign/Likely benign
Select item 137630	NM_001378183.1(PIEZO2):c.8395C>T (p.Arg2799Cys)	PIEZO2 (R2686C +1 more)	Single nucleotide variant (missense variant)	Gordon syndrome +1 more	GPathogenic/Likely pathogenic
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 137628	NM_001378183.1(PIEZO2):c.8577_8584del (p.Trp2859_Glu2862delinsTer)	PIEZO2	Deletion (nonsense)	Gordon syndrome	GPathogenic

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Items: 47