ClinVar for MedGen (Select 1638271) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064466	NM_001142864.4(PIEZO1):c.3785G>A (p.Gly1262Asp)	PIEZO1 (G1262D +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 2692311	NM_001142864.4(PIEZO1):c.7348_7359dup (p.Lys2453_Phe2454insValIleGlyLys)	PIEZO1	Duplication (inframe insertion +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 2671765	NM_001142864.4(PIEZO1):c.6412T>G (p.Cys2138Gly)	PIEZO1 (C1652G +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 2664841	NM_001142864.4(PIEZO1):c.2330-9_2330-2dup	HSALR1, PIEZO1	Duplication (splice acceptor variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GLikely benign
Select item 2632265	NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)	PIEZO1 (A1517D +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related condition +1 more	GLikely pathogenic
Select item 2627413	NM_001142864.4(PIEZO1):c.3026A>T (p.Gln1009Leu)	HSALR1, PIEZO1 (Q1009L +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 2585410	NM_001142864.4(PIEZO1):c.4241A>G (p.His1414Arg)	PIEZO1 (H1414R +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 2445985	NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)	HSALR1, PIEZO1 (P237L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707478	NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)	HSALR1, PIEZO1 (Q461*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1683545	NM_001142864.4(PIEZO1):c.5272G>C (p.Val1758Leu)	PIEZO1 (V1758L)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1350725	NM_001142864.4(PIEZO1):c.4388AGCAGG[2] (p.1465EQ[1])	PIEZO1	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 1344888	NM_001142864.4(PIEZO1):c.307C>T (p.Arg103Ter)	PIEZO1 (R103*)	Single nucleotide variant (nonsense)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 1330562	NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met)	PIEZO1 (L2277M)	Single nucleotide variant (missense variant)	PIEZO1-related condition +1 more	GBenign/Likely benign
Select item 1328215	NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup)	PIEZO1	Duplication (inframe_insertion)	Lymphatic malformation 6 +2 more	GConflicting classifications of pathogenicity
Select item 1327013	NM_001142864.4(PIEZO1):c.2992-23A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +3 more	GBenign/Likely benign
Select item 1282996	NM_001142864.4(PIEZO1):c.466-39C>T	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	Lymphatic malformation 6 +2 more	GBenign
Select item 1281648	NM_001142864.4(PIEZO1):c.3796+22G>A	PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1276032	NM_001142864.4(PIEZO1):c.1196-48A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1265850	NM_001142864.4(PIEZO1):c.1997+32C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1257518	NM_001142864.4(PIEZO1):c.5802-27G>A	PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1251068	NM_001142864.4(PIEZO1):c.1195+36dup	HSALR1, LOC130059751 +1 more	Duplication (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1248213	NM_001142864.4(PIEZO1):c.4775+31G>T	PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 1239448	NM_001142864.4(PIEZO1):c.7316+21del	PIEZO1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1237728	NM_001142864.4(PIEZO1):c.161-32G>A	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1235367	NM_001142864.4(PIEZO1):c.3699+33T>C	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1190824	NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met)	PIEZO1 (T1732M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1033325	NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu)	PIEZO1 (F1930L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1032665	NM_001142864.4(PIEZO1):c.5777G>A (p.Arg1926Gln)	PIEZO1 (R1926Q)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1030208	NM_001142864.4(PIEZO1):c.849-5G>A	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1030207	NM_001142864.4(PIEZO1):c.7553G>A (p.Arg2518His)	PIEZO1 (R2518H)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 1030202	NM_001142864.4(PIEZO1):c.1020+14A>G	PIEZO1, HSALR1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 994164	NM_001142864.4(PIEZO1):c.3699+20G>C	PIEZO1	Single nucleotide variant (intron variant)	Lymphatic malformation 6 +2 more	GBenign/Likely benign
Select item 994109	NM_001142864.4(PIEZO1):c.848+17C>T	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 994107	NM_001142864.4(PIEZO1):c.1557+16C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 994106	NM_001142864.4(PIEZO1):c.2329+19G>A	PIEZO1, HSALR1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 989266	NM_001142864.4(PIEZO1):c.2209C>A (p.Leu737Met)	HSALR1, PIEZO1 (L737M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 987920	NM_001142864.4(PIEZO1):c.4850C>T (p.Thr1617Met)	PIEZO1 (T1617M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 983306	NM_001142864.4(PIEZO1):c.6280C>T (p.Leu2094Phe)	PIEZO1 (L2094F)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 982873	NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp)	HSALR1, PIEZO1 (R954W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 978810	NM_002250.3(KCNN4):c.940T>C (p.Ser314Pro)	KCNN4 (S314P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 978720	NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)	PIEZO1, HSALR1 (C1064F)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more	GLikely pathogenic
Select item 978719	NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)	PIEZO1 (D1066G)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more	GLikely pathogenic
Select item 930833	NM_001142864.4(PIEZO1):c.6679G>A (p.Ala2227Thr)	PIEZO1 (A2227T)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GBenign
Select item 829815	NM_001142864.4(PIEZO1):c.2005G>T (p.Asp669Tyr)	PIEZO1, HSALR1 (D669Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 811773	NM_001142864.4(PIEZO1):c.2330-16C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 780319	NM_001142864.4(PIEZO1):c.3363A>G (p.Thr1121=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 780318	NM_001142864.4(PIEZO1):c.6294C>T (p.Tyr2098=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 727413	NM_001142864.4(PIEZO1):c.2664+7del	HSALR1, PIEZO1	Deletion (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 727412	NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val)	PIEZO1 (A1312V)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more	GConflicting classifications of pathogenicity
Select item 727411	NM_001142864.4(PIEZO1):c.4872A>G (p.Ala1624=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 727410	NM_001142864.4(PIEZO1):c.4955+3G>A	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 727409	NM_001142864.4(PIEZO1):c.7495T>C (p.Leu2499=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 726258	NM_001142864.4(PIEZO1):c.7317-5C>T	PIEZO1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 712742	NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=)	HSALR1, LOC130059751 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 712740	NM_001142864.4(PIEZO1):c.4992G>A (p.Leu1664=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 709313	NM_001142864.4(PIEZO1):c.132C>T (p.Phe44=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618788	NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign/Likely benign
Select item 618281	NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met)	PIEZO1 (T1851M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 618273	NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 548456	NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His)	HSALR1, PIEZO1 (R1036H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 440057	NM_001142864.4(PIEZO1):c.555C>T (p.Ala185=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 440051	NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu)	HSALR1, LOC130059751 +1 more (V394L)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440050	NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440049	NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440048	NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440047	NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440046	NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr)	PIEZO1 (I83T)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440045	NM_001142864.4(PIEZO1):c.465+8C>T	PIEZO1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440044	NM_001142864.4(PIEZO1):c.635-8C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440043	NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala)	HSALR1, PIEZO1 (V250A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign
Select item 440042	NM_001142864.4(PIEZO1):c.3969-5T>C	PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 440041	NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=)	PIEZO1	Single nucleotide variant (synonymous variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 440040	NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=)	PIEZO1	Single nucleotide variant (synonymous variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440039	NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly)	HSALR1, PIEZO1 (R407G)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440038	NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu)	PIEZO1 (P1398L)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 440037	NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser)	PIEZO1 (P1857S)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +2 more	GBenign
Select item 440036	NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del)	PIEZO1 (K1878del)	Microsatellite (inframe_deletion)	Lymphatic malformation 6 +2 more	GBenign
Select item 440035	NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val)	PIEZO1 (I2265V)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 418948	NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])	PIEZO1	Microsatellite (inframe_insertion)	not provided +2 more	GPathogenic
Select item 381268	NM_001142864.4(PIEZO1):c.4956-3T>C	PIEZO1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 55813	NM_001142864.2(PIEZO1):c.[1848+31C>G;2344G>A;2423G>A]	HSALR1, PIEZO1 (R808Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 55811	NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)	PIEZO1 (T2127M)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more	GLikely pathogenic
Select item 55809	NM_001142864.2(PIEZO1):[c.3350C>T;c.6059C>T]	PIEZO1 (S1117L +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 55808	NM_001142864.4(PIEZO1):c.4073G>C (p.Arg1358Pro)	PIEZO1 (R1358P)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic
Select item 55807	NM_001142864.4(PIEZO1):c.6058G>A (p.Ala2020Thr)	PIEZO1 (A2020T)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 55806	NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)	PIEZO1 (R2456H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 55805	NM_001142864.4(PIEZO1):c.6674T>G (p.Met2225Arg)	PIEZO1 (M2225R)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GPathogenic

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Items: 88