"GeneDx"[submitter] AND "HSALR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 1231612	NM_001142864.4(PIEZO1):c.3196+188T>C	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238145	NM_001142864.4(PIEZO1):c.3196+132C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 427211	NM_001142864.4(PIEZO1):c.3181C>G (p.Pro1061Ala)	HSALR1, PIEZO1 (P1061A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 618788	NM_001142864.4(PIEZO1):c.3129C>T (p.Leu1043=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1309344	NM_001142864.4(PIEZO1):c.3106C>T (p.Arg1036Cys)	HSALR1, PIEZO1 (R1036C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364190	NM_001142864.4(PIEZO1):c.3092G>A (p.Arg1031His)	HSALR1, PIEZO1 (R1031H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1219112	NM_001142864.4(PIEZO1):c.2992-46_2992-45insCAT	HSALR1, PIEZO1	Insertion (intron variant)	not provided	GLikely benign
Select item 1194052	NM_001142864.4(PIEZO1):c.2992-46_2992-45insCT	HSALR1, PIEZO1	Insertion (intron variant)	not provided	GLikely benign
Select item 1267228	NM_001142864.4(PIEZO1):c.2992-200C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183092	NM_001142864.4(PIEZO1):c.2991+185A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197045	NM_001142864.4(PIEZO1):c.2991+143G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278317	NM_001142864.4(PIEZO1):c.2991+141C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258401	NM_001142864.4(PIEZO1):c.2991+118G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190027	NM_001142864.4(PIEZO1):c.2991+108G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276984	NM_001142864.4(PIEZO1):c.2991+25C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994443	NM_001142864.4(PIEZO1):c.2991+12A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305720	NM_001142864.4(PIEZO1):c.2908G>C (p.Gly970Arg)	HSALR1, PIEZO1 (G970R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440059	NM_001142864.4(PIEZO1):c.2790+10A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699812	NM_001142864.4(PIEZO1):c.2776C>G (p.Leu926Val)	HSALR1, PIEZO1 (L926V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1162800	NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser)	HSALR1, PIEZO1 (N915S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 719204	NM_001142864.4(PIEZO1):c.2689C>T (p.Leu897=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246894	NM_001142864.4(PIEZO1):c.2665-98A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283748	NM_001142864.4(PIEZO1):c.2665-148C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230952	NM_001142864.4(PIEZO1):c.2665-162C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276539	NM_001142864.4(PIEZO1):c.2665-193C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291703	NM_001142864.4(PIEZO1):c.2665-198C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241263	NM_001142864.4(PIEZO1):c.2664+269C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240859	NM_001142864.4(PIEZO1):c.2664+202A>C	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994444	NM_001142864.4(PIEZO1):c.2664+12C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314759	NM_001142864.4(PIEZO1):c.2561C>T (p.Ala854Val)	HSALR1, PIEZO1 (A854V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434804	NM_001142864.4(PIEZO1):c.2546G>A (p.Arg849His)	HSALR1, PIEZO1 (R363H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2444549	NM_001142864.4(PIEZO1):c.2545C>T (p.Arg849Cys)	HSALR1, PIEZO1 (R363C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 810954	NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 424596	NM_001142864.4(PIEZO1):c.2420G>A (p.Arg807Gln)	PIEZO1, HSALR1 (R807Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 440060	NM_001142864.4(PIEZO1):c.2361G>C (p.Arg787=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1265420	NM_001142864.4(PIEZO1):c.2330-23C>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	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 440061	NM_001142864.4(PIEZO1):c.2247GGA[7] (p.Glu756del)	HSALR1, PIEZO1 (E756del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1195492	NM_001142864.4(PIEZO1):c.2245_2250del (p.Gln749_Glu750del)	HSALR1, PIEZO1	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 618782	NM_001142864.4(PIEZO1):c.2233CAG[4] (p.Gln749del)	HSALR1, PIEZO1 (Q749del)	Microsatellite (inframe_deletion)	not provided	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 993343	NM_001142864.4(PIEZO1):c.2181-15C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231708	NM_001142864.4(PIEZO1):c.2181-89_2181-84del	HSALR1, PIEZO1	Deletion (intron variant)	not provided	GBenign
Select item 1279618	NM_001142864.4(PIEZO1):c.2181-139A>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287124	NM_001142864.4(PIEZO1):c.2181-148C>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179607	NM_001142864.4(PIEZO1):c.2180+94C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244667	NM_001142864.4(PIEZO1):c.2180+71G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993793	NM_001142864.4(PIEZO1):c.2159G>A (p.Arg720His)	HSALR1, PIEZO1 (R720H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773310	NM_001142864.4(PIEZO1):c.2139C>T (p.His713=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2059764	NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys)	HSALR1, PIEZO1 (M226K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 993794	NM_001142864.4(PIEZO1):c.2130C>T (p.Asp710=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440058	NM_001142864.4(PIEZO1):c.2031G>A (p.Val677=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1225310	NM_001142864.4(PIEZO1):c.1997+56G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265850	NM_001142864.4(PIEZO1):c.1997+32C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1306206	NM_001142864.4(PIEZO1):c.1994A>G (p.Glu665Gly)	HSALR1, PIEZO1 (E665G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049686	NM_001142864.4(PIEZO1):c.1970G>A (p.Arg657His)	HSALR1, PIEZO1 (R657H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306253	NM_001142864.4(PIEZO1):c.1845C>G (p.Phe615Leu)	HSALR1, PIEZO1 (F615L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724917	NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met)	HSALR1, PIEZO1 (T563M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 440062	NM_001142864.4(PIEZO1):c.1674C>T (p.Pro558=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 811346	NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys)	HSALR1, PIEZO1 (R531C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246106	NM_001142864.4(PIEZO1):c.1558-116C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259670	NM_001142864.4(PIEZO1):c.1557+308C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260197	NM_001142864.4(PIEZO1):c.1557+83G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183210	NM_001142864.4(PIEZO1):c.1557+62C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275988	NM_001142864.4(PIEZO1):c.1557+45C>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 994107	NM_001142864.4(PIEZO1):c.1557+16C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 993795	NM_001142864.4(PIEZO1):c.1540C>T (p.Leu514=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 440056	NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1695618	NM_001142864.4(PIEZO1):c.1499G>C (p.Ser500Thr)	HSALR1, PIEZO1 (S500T)	Single nucleotide variant (missense variant)	not provided	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 993796	NM_001142864.4(PIEZO1):c.1365G>A (p.Thr455=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1196866	NM_001142864.4(PIEZO1):c.1297-59_1298del	HSALR1, PIEZO1	Deletion (splice acceptor variant)	Lymphatic malformation 6 +1 more	GBenign/Likely benign
Select item 1214786	NM_001142864.4(PIEZO1):c.1297-14T>C	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 994108	NM_001142864.4(PIEZO1):c.1297-16C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 440039	NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly)	HSALR1, PIEZO1 (R407G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 994153	NM_001142864.4(PIEZO1):c.1196-17G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	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 1242788	NM_001142864.4(PIEZO1):c.1196-353C>G	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	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 1214568	NM_001142864.4(PIEZO1):c.1195+35C>T	HSALR1, LOC130059751 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225732	NM_001142864.4(PIEZO1):c.1195+33T>G	HSALR1, LOC130059751 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2282685	NM_001142864.4(PIEZO1):c.1186C>T (p.Arg396Trp)	HSALR1, LOC130059751 +1 more (R396W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440051	NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu)	LOC130059751, PIEZO1 +1 more (V394L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2386482	NM_001142864.4(PIEZO1):c.1178C>T (p.Ser393Phe)	HSALR1, PIEZO1 (S393F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 440054	NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr)	HSALR1, PIEZO1 (S338Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1309345	NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val)	HSALR1, PIEZO1 (A334V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 781344	NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val)	HSALR1, PIEZO1 (L329V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1189960	NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala)	HSALR1, PIEZO1 (G317A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1308730	NM_001142864.4(PIEZO1):c.946C>T (p.Pro316Ser)	HSALR1, PIEZO1 (P316S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1195653	NM_001142864.4(PIEZO1):c.848+59G>A	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 994109	NM_001142864.4(PIEZO1):c.848+17C>T	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +2 more	GBenign
Select item 3364744	NM_001142864.4(PIEZO1):c.799C>T (p.Gln267Ter)	HSALR1, PIEZO1 (Q267*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 808139	NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val)	HSALR1, PIEZO1 (A251V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 440043	NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala)	HSALR1, PIEZO1 (V250A)	Single nucleotide variant (non-coding transcript variant +1 more)	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

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