ClinVar for MedGen (Select 163206) - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585393	NM_001378183.1(PIEZO2):c.7604T>C (p.Phe2535Ser)	PIEZO2 (F2447S +2 more)	Single nucleotide variant (missense variant)	Marden-Walker syndrome	GUncertain significance
Select item 2441988	NM_001378183.1(PIEZO2):c.1379-1G>A	PIEZO2	Single nucleotide variant (splice acceptor variant)	Marden-Walker syndrome	GLikely pathogenic
Select item 2431760	NM_001378183.1(PIEZO2):c.7880dup (p.Gln2628fs)	PIEZO2 (Q2515fs +1 more)	Duplication (frameshift variant)	Marden-Walker syndrome	GLikely pathogenic
Select item 1803251	NM_001378183.1(PIEZO2):c.3358T>C (p.Phe1120Leu)	PIEZO2 (F1095L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1709333	NM_001378183.1(PIEZO2):c.8173A>G (p.Met2725Val)	PIEZO2 (M2612V +2 more)	Single nucleotide variant (missense variant)	Marden-Walker syndrome	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 1028748	NM_001378183.1(PIEZO2):c.3193G>C (p.Asp1065His)	PIEZO2 (D1065H +1 more)	Single nucleotide variant (missense variant)	Marden-Walker syndrome	GUncertain significance
Select item 638514	NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met)	PIEZO2 (T1942M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 638404	NM_001378183.1(PIEZO2):c.2170-2A>C	PIEZO2	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch +1 more	GPathogenic
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 493231	NM_001378183.1(PIEZO2):c.605G>T (p.Arg202Leu)	PIEZO2 (R202L)	Single nucleotide variant (missense variant)	Marden-Walker syndrome +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 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

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Links from MedGen

Items: 40