ClinVar for Gene (Select 9780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250829	NM_001142864.4(PIEZO1):c.2832C>T (p.Ile944=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3243321	NC_000016.9:g.(?_88851289)_(88909257_?)del	APRT, CDT1 +2 more	Deletion	Mucopolysaccharidosis, MPS-IV-A	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3242215	NM_001142864.4(PIEZO1):c.6439_6441del (p.Phe2147del)	PIEZO1 (F1661del +1 more)	Deletion (inframe_deletion +1 more)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 3239040	NM_001142864.4(PIEZO1):c.4608C>T (p.His1536=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3237439	NM_001142864.4(PIEZO1):c.3637G>C (p.Val1213Leu)	PIEZO1 (V1213L +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 3237438	NM_001142864.4(PIEZO1):c.4428G>C (p.Gln1476His)	PIEZO1 (Q1476H +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 3237430	NM_001142864.4(PIEZO1):c.4181G>A (p.Gly1394Asp)	PIEZO1 (G1394D +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 3237426	NM_001142864.4(PIEZO1):c.4385_4390del (p.Arg1462_Gln1463del)	PIEZO1	Deletion (inframe_deletion +1 more)	Lymphatic malformation 6	GUncertain significance
Select item 3237410	NM_001142864.4(PIEZO1):c.5532G>A (p.Val1844=)	PIEZO1	Single nucleotide variant (synonymous variant)	Lymphatic malformation 6	GUncertain significance
Select item 3237395	NM_001142864.4(PIEZO1):c.2578G>A (p.Val860Met)	HSALR1, PIEZO1 (V374M +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 3237386	NM_001142864.4(PIEZO1):c.5057A>G (p.His1686Arg)	PIEZO1 (H1200R +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 6	GUncertain significance
Select item 3235942	NM_001142864.4(PIEZO1):c.3154C>T (p.Gln1052Ter)	HSALR1, PIEZO1 (Q1052* +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 6	GLikely pathogenic
Select item 3235941	NM_001142864.4(PIEZO1):c.4955+1G>A	PIEZO1	Single nucleotide variant (splice donor variant)	Lymphatic malformation 6	GLikely pathogenic
Select item 3235926	NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro)	PIEZO1 (R1970P +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GLikely pathogenic
Select item 3234917	NM_001142864.4(PIEZO1):c.6614A>G (p.Asn2205Ser)	PIEZO1 (N1719S +1 more)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 3234563	NM_001142864.4(PIEZO1):c.7431C>A (p.Ile2477=)	PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3234278	NM_001142864.4(PIEZO1):c.1047G>A (p.Glu349=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233711	NM_001142864.4(PIEZO1):c.6993C>A (p.Asn2331Lys)	PIEZO1 (N1845K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212716	NM_001142864.4(PIEZO1):c.949G>A (p.Gly317Ser)	HSALR1, PIEZO1 (G317S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212714	NM_001142864.4(PIEZO1):c.7393T>C (p.Ser2465Pro)	PIEZO1 (S1979P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212713	NM_001142864.4(PIEZO1):c.7370G>C (p.Gly2457Ala)	PIEZO1 (G1971A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212712	NM_001142864.4(PIEZO1):c.7318A>G (p.Ile2440Val)	PIEZO1 (I1954V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212711	NM_001142864.4(PIEZO1):c.719T>A (p.Ile240Asn)	HSALR1, PIEZO1 (I240N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212710	NM_001142864.4(PIEZO1):c.7088C>G (p.Pro2363Arg)	PIEZO1 (P1877R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212709	NM_001142864.4(PIEZO1):c.6993C>G (p.Asn2331Lys)	PIEZO1 (N1845K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212708	NM_001142864.4(PIEZO1):c.6895A>G (p.Ile2299Val)	PIEZO1 (I1813V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212707	NM_001142864.4(PIEZO1):c.6484C>A (p.Pro2162Thr)	PIEZO1 (P2162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212706	NM_001142864.4(PIEZO1):c.6251G>A (p.Gly2084Asp)	PIEZO1 (G1598D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212705	NM_001142864.4(PIEZO1):c.620T>C (p.Leu207Pro)	HSALR1, PIEZO1 (L207P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212703	NM_001142864.4(PIEZO1):c.6112G>C (p.Val2038Leu)	PIEZO1 (V2038L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212702	NM_001142864.4(PIEZO1):c.6071G>A (p.Arg2024His)	PIEZO1 (R2024H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212701	NM_001142864.4(PIEZO1):c.5962G>A (p.Ala1988Thr)	PIEZO1 (A1502T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212700	NM_001142864.4(PIEZO1):c.5957C>T (p.Ser1986Leu)	PIEZO1 (S1986L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212699	NM_001142864.4(PIEZO1):c.5890A>G (p.Met1964Val)	PIEZO1 (M1964V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212698	NM_001142864.4(PIEZO1):c.5859G>C (p.Lys1953Asn)	PIEZO1 (K1467N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212696	NM_001142864.4(PIEZO1):c.5777G>T (p.Arg1926Leu)	PIEZO1 (R1440L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212695	NM_001142864.4(PIEZO1):c.5737C>G (p.Pro1913Ala)	PIEZO1 (P1427A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212693	NM_001142864.4(PIEZO1):c.5692G>C (p.Glu1898Gln)	PIEZO1 (E1412Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212692	NM_001142864.4(PIEZO1):c.5692G>A (p.Glu1898Lys)	PIEZO1 (E1898K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212691	NM_001142864.4(PIEZO1):c.5648G>A (p.Arg1883Gln)	PIEZO1 (R1883Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212690	NM_001142864.4(PIEZO1):c.5627G>T (p.Arg1876Met)	PIEZO1 (R1390M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212689	NM_001142864.4(PIEZO1):c.5617T>C (p.Phe1873Leu)	PIEZO1 (F1387L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212687	NM_001142864.4(PIEZO1):c.5600G>C (p.Arg1867Thr)	PIEZO1 (R1867T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212686	NM_001142864.4(PIEZO1):c.5560A>G (p.Thr1854Ala)	PIEZO1 (T1368A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212685	NM_001142864.4(PIEZO1):c.536C>T (p.Thr179Ile)	HSALR1, PIEZO1 (T179I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212684	NM_001142864.4(PIEZO1):c.5281C>T (p.Arg1761Trp)	PIEZO1 (R1275W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212683	NM_001142864.4(PIEZO1):c.5168C>T (p.Pro1723Leu)	PIEZO1 (P1237L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212682	NM_001142864.4(PIEZO1):c.5135T>G (p.Val1712Gly)	PIEZO1 (V1226G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212681	NM_001142864.4(PIEZO1):c.5086A>C (p.Ile1696Leu)	PIEZO1 (I1696L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212680	NM_001142864.4(PIEZO1):c.4732C>T (p.Pro1578Ser)	PIEZO1 (P1092S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212679	NM_001142864.4(PIEZO1):c.4639C>T (p.Arg1547Cys)	PIEZO1 (R1547C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212678	NM_001142864.4(PIEZO1):c.4616T>C (p.Met1539Thr)	PIEZO1 (M1053T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212677	NM_001142864.4(PIEZO1):c.4474G>A (p.Gly1492Ser)	PIEZO1 (G1492S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212675	NM_001142864.4(PIEZO1):c.4358C>A (p.Thr1453Asn)	PIEZO1 (T967N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212674	NM_001142864.4(PIEZO1):c.4214C>T (p.Pro1405Leu)	PIEZO1 (P1405L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212673	NM_001142864.4(PIEZO1):c.4103G>T (p.Arg1368Leu)	PIEZO1 (R1368L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212671	NM_001142864.4(PIEZO1):c.3977C>T (p.Ala1326Val)	PIEZO1 (A840V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212670	NM_001142864.4(PIEZO1):c.3814A>G (p.Arg1272Gly)	PIEZO1 (R1272G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212669	NM_001142864.4(PIEZO1):c.358C>T (p.Arg120Trp)	PIEZO1 (R120W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212668	NM_001142864.4(PIEZO1):c.3541C>T (p.Arg1181Cys)	PIEZO1 (R1181C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212667	NM_001142864.4(PIEZO1):c.3463C>G (p.Leu1155Val)	PIEZO1 (L1155V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212666	NM_001142864.4(PIEZO1):c.3449A>G (p.His1150Arg)	PIEZO1 (H664R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212665	NM_001142864.4(PIEZO1):c.3331C>A (p.Gln1111Lys)	PIEZO1 (Q625K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212664	NM_001142864.4(PIEZO1):c.327G>C (p.Arg109Ser)	PIEZO1 (R109S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212663	NM_001142864.4(PIEZO1):c.3277G>A (p.Ala1093Thr)	PIEZO1 (A1093T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212662	NM_001142864.4(PIEZO1):c.3272T>G (p.Phe1091Cys)	PIEZO1 (F1091C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212661	NM_001142864.4(PIEZO1):c.3223G>A (p.Val1075Ile)	PIEZO1 (V1075I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212660	NM_001142864.4(PIEZO1):c.2947C>T (p.Leu983Phe)	HSALR1, PIEZO1 (L983F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212658	NM_001142864.4(PIEZO1):c.2867A>G (p.His956Arg)	HSALR1, PIEZO1 (H470R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212657	NM_001142864.4(PIEZO1):c.2843G>A (p.Arg948His)	HSALR1, PIEZO1 (R462H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212656	NM_001142864.4(PIEZO1):c.2824G>A (p.Glu942Lys)	HSALR1, PIEZO1 (E942K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212655	NM_001142864.4(PIEZO1):c.2641G>C (p.Glu881Gln)	HSALR1, PIEZO1 (E395Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212654	NM_001142864.4(PIEZO1):c.2557A>T (p.Met853Leu)	HSALR1, PIEZO1 (M853L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212653	NM_001142864.4(PIEZO1):c.2419C>T (p.Arg807Trp)	HSALR1, PIEZO1 (R321W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212652	NM_001142864.4(PIEZO1):c.2293G>A (p.Val765Met)	HSALR1, PIEZO1 (V279M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212651	NM_001142864.4(PIEZO1):c.2284G>T (p.Gly762Trp)	HSALR1, PIEZO1 (G276W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212650	NM_001142864.4(PIEZO1):c.2233C>G (p.Gln745Glu)	HSALR1, PIEZO1 (Q260E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212649	NM_001142864.4(PIEZO1):c.2195G>A (p.Ser732Asn)	HSALR1, PIEZO1 (S732N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212648	NM_001142864.4(PIEZO1):c.2134G>A (p.Glu712Lys)	HSALR1, PIEZO1 (E712K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212646	NM_001142864.4(PIEZO1):c.1868G>A (p.Arg623Gln)	HSALR1, PIEZO1 (R623Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212644	NM_001142864.4(PIEZO1):c.1624G>A (p.Ala542Thr)	HSALR1, PIEZO1 (A542T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212643	NM_001142864.4(PIEZO1):c.1574C>T (p.Thr525Ile)	HSALR1, PIEZO1 (T40I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212641	NM_001142864.4(PIEZO1):c.1441C>T (p.Arg481Cys)	HSALR1, PIEZO1 (R481C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212640	NM_001142864.4(PIEZO1):c.1420G>A (p.Gly474Arg)	HSALR1, PIEZO1 (G474R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212638	NM_001142864.4(PIEZO1):c.1153G>A (p.Val385Met)	HSALR1, PIEZO1 (V385M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212637	NM_001142864.4(PIEZO1):c.1108C>G (p.His370Asp)	HSALR1, PIEZO1 (H370D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212636	NM_001142864.4(PIEZO1):c.1102G>C (p.Asp368His)	HSALR1, PIEZO1 (D368H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212635	NM_001142864.4(PIEZO1):c.107T>A (p.Leu36His)	PIEZO1 (L36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075989	NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)	PIEZO1 (Y1194* +1 more)	Single nucleotide variant (nonsense)	Diffuse lymphatic malformation	GLikely pathogenic
Select item 3067409	NM_001142864.4(PIEZO1):c.2330-6T>C	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067397	NM_001142864.4(PIEZO1):c.2379C>T (p.Ala793=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067348	NM_001142864.4(PIEZO1):c.1188G>A (p.Arg396=)	HSALR1, LOC130059751 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance

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