ClinVar for MedGen (Select 350678) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627045	NM_001378183.1(PIEZO2):c.3450+2T>G	PIEZO2	Single nucleotide variant (splice donor variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GLikely pathogenic
Select item 2579693	NM_001378183.1(PIEZO2):c.2360T>G (p.Leu787Arg)	PIEZO2 (L787R)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GUncertain significance
Select item 2524509	NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys)	PIEZO2 (F2346C +2 more)	Single nucleotide variant (missense variant)	Gordon syndrome +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 1686066	NM_001378183.1(PIEZO2):c.2372T>A (p.Ile791Lys)	PIEZO2 (I791K)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 1686065	NM_001378183.1(PIEZO2):c.2724_2734del (p.Ser908fs)	PIEZO2 (S883fs +1 more)	Deletion (frameshift variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 1686064	NM_001378183.1(PIEZO2):c.5079dup (p.Asp1694fs)	PIEZO2 (D1636fs +1 more)	Duplication (frameshift variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
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 974867	NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu)	PIEZO2 (S2739L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GLikely pathogenic
Select item 973945	NM_001378183.1(PIEZO2):c.8395C>G (p.Arg2799Gly)	PIEZO2 (R2686G +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome +1 more	GPathogenic/Likely pathogenic
Select item 436313	NM_001378183.1(PIEZO2):c.6475G>C (p.Glu2159Gln)	PIEZO2 (E2046Q +1 more)	Single nucleotide variant (missense variant)	PIEZO2-related condition +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 235843	NM_001378183.1(PIEZO2):c.3068T>C (p.Met1023Thr)	PIEZO2 (M998T +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 235842	NM_001378183.1(PIEZO2):c.7001C>T (p.Thr2334Ile)	PIEZO2 (T2221I +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 235841	NM_001378183.1(PIEZO2):c.7007C>T (p.Ser2336Leu)	PIEZO2 (S2223L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 235840	NM_001378183.1(PIEZO2):c.7406C>T (p.Thr2469Met)	PIEZO2 (T2356M +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 235839	NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del)	PIEZO2 (E2727del +1 more)	Microsatellite (inframe_deletion)	Distal arthrogryposis +2 more	GPathogenic
Select item 235838	NM_001378183.1(PIEZO2):c.8547del (p.Tyr2850fs)	PIEZO2 (Y2737fs +1 more)	Deletion (frameshift variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	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 137634	NM_001378183.1(PIEZO2):c.8554T>C (p.Ser2852Pro)	PIEZO2 (S2739P +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 137633	NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)	PIEZO2 (M712V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 137632	NM_001378183.1(PIEZO2):c.8492G>C (p.Arg2831Pro)	PIEZO2 (R2718P +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 137631	NM_001378183.1(PIEZO2):c.8492G>T (p.Arg2831Leu)	PIEZO2 (R2718L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic
Select item 137629	NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)	PIEZO2 (R2686H +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch +6 more	GPathogenic
Select item 96704	NM_001378183.1(PIEZO2):c.2404A>T (p.Ile802Phe)	PIEZO2 (I802F)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GPathogenic

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Links from MedGen

Items: 50