ClinVar for MedGen (Select 908120) - ClinVar

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Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672224	NM_001142864.4(PIEZO1):c.3397G>A (p.Asp1133Asn)	PIEZO1 (D1133N +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 2672158	NM_001142864.4(PIEZO1):c.2559G>A (p.Met853Ile)	HSALR1, PIEZO1 (M367I +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 2672148	NM_001142864.4(PIEZO1):c.5072_5074del (p.Cys1691del)	PIEZO1 (C1205del +1 more)	Deletion (inframe_indel +1 more)	Lymphatic malformation 6	GUncertain significance
Select item 2672112	NM_001142864.4(PIEZO1):c.4607A>G (p.His1536Arg)	PIEZO1 (H1050R +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 2506016	NM_001142864.4(PIEZO1):c.113TGC[3] (p.Leu41del)	PIEZO1 (L41del)	Microsatellite (inframe_deletion)	Lymphatic malformation 6	GLikely pathogenic
Select item 2506015	NM_001142864.4(PIEZO1):c.4914C>G (p.Tyr1638Ter)	PIEZO1 (Y1152* +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
Select item 2505200	NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)	PIEZO1 (Y1448fs)	Deletion (frameshift variant)	Lymphatic malformation 6	GLikely pathogenic
Select item 2500768	NM_005149.3(TBX19):c.666-2A>T	TBX19	Single nucleotide variant (splice acceptor variant)	Lymphatic malformation 6	GLikely pathogenic
Select item 2444346	NM_001142864.4(PIEZO1):c.4058+1G>C	PIEZO1	Single nucleotide variant (splice donor variant)	Lymphatic malformation 6	GPathogenic
Select item 2441629	NM_001142864.4(PIEZO1):c.2838C>A (p.Tyr946Ter)	HSALR1, PIEZO1 (Y460* +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
Select item 2434803	NM_001142864.4(PIEZO1):c.5116G>A (p.Gly1706Ser)	PIEZO1 (G1220S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2428551	NM_001142864.4(PIEZO1):c.4556A>C (p.Gln1519Pro)	PIEZO1 (Q1033P +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +1 more	GUncertain significance
Select item 1709590	NM_001142864.4(PIEZO1):c.6901_6912del (p.Leu2301_Thr2304del)	PIEZO1	Deletion (inframe_deletion +1 more)	Lymphatic malformation 6	GUncertain significance
Select item 1709589	NM_001142864.4(PIEZO1):c.2664G>A (p.Glu888=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	Lymphatic malformation 6	GUncertain significance
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 1698796	NM_001142864.4(PIEZO1):c.1297-1G>A	HSALR1, PIEZO1	Single nucleotide variant (splice acceptor variant)	Lymphatic malformation 6	GLikely pathogenic
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 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 1196866	NM_001142864.4(PIEZO1):c.1297-59_1298del	HSALR1, PIEZO1	Deletion (splice acceptor variant)	not provided +1 more	GBenign/Likely benign
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 1177414	NM_001142864.4(PIEZO1):c.6211T>C (p.Cys2071Arg)	PIEZO1 (C2071R)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 1163992	NM_001142864.4(PIEZO1):c.5289C>G (p.Tyr1763Ter)	PIEZO1 (Y1763*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6 +1 more	GPathogenic/Likely pathogenic
Select item 1030206	NM_001142864.4(PIEZO1):c.5743C>G (p.Arg1915Gly)	PIEZO1 (R1915G)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 1030205	NM_001142864.4(PIEZO1):c.2401C>T (p.Arg801Cys)	HSALR1, PIEZO1 (R801C)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 1030204	NM_001142864.4(PIEZO1):c.19G>C (p.Gly7Arg)	PIEZO1 (G7R)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	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 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 985646	NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs)	PIEZO1 (S1425fs)	Deletion (frameshift variant)	not provided +2 more	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 973951	NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter)	PIEZO1 (E2322*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
Select item 973950	NM_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp)	PIEZO1 (R1925W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 916578	NM_001142864.4(PIEZO1):c.4373_4387delinsCGGCAGCAGG (p.Val1458fs)	PIEZO1 (V1458fs)	Indel (frameshift variant)	Lymphatic malformation 6	GLikely pathogenic
Select item 916229	NM_001142864.4(PIEZO1):c.5290G>T (p.Glu1764Ter)	PIEZO1 (E1764*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6 +1 more	GLikely pathogenic
Select item 829803	NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu)	HSALR1, PIEZO1 (S831L)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +1 more	GConflicting classifications of pathogenicity
Select item 811975	NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile)	PIEZO1 (V2052I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 638427	NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu)	HSALR1, PIEZO1 (F1000L)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +1 more	GUncertain significance
Select item 638426	NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro)	PIEZO1 (R2518P)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +1 more	GUncertain significance
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 599181	NM_001142864.4(PIEZO1):c.6208A>C (p.Lys2070Gln)	PIEZO1 (K2070Q)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GLikely pathogenic
Select item 599180	NM_001142864.4(PIEZO1):c.3206G>A (p.Trp1069Ter)	PIEZO1 (W1069*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GLikely pathogenic
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 449461	NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter)	HSALR1, PIEZO1 (Q422*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6 +1 more	GPathogenic
Select item 446042	NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile)	PIEZO1 (V1223I)	Single nucleotide variant (missense variant)	Lymphatic malformation 6 +2 more	GLikely benign
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 242665	NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)	HSALR1, PIEZO1 (G782S)	Single nucleotide variant (missense variant)	PIEZO1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 223133	NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu)	PIEZO1 (P2430L)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GPathogenic
Select item 223132	NM_001142864.4(PIEZO1):c.1669+1G>A	PIEZO1, HSALR1	Single nucleotide variant (splice donor variant)	Lymphatic malformation 6	GPathogenic
Select item 223131	NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe)	PIEZO1 (V2171F)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GPathogenic
Select item 223130	NM_001142864.4(PIEZO1):c.3796+1G>A	PIEZO1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 223129	NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter)	PIEZO1 (Q2228*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
Select item 223128	NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter)	PIEZO1 (E1630*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
Select item 223127	NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter)	HSALR1, PIEZO1 (E755*)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GPathogenic
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

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Items: 100