Related gene-specific medical variations for Gene (Select 9780) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3364190	NM_001142864.4(PIEZO1):c.3092G>A (p.Arg1031His)	HSALR1, PIEZO1 (R1031H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362705	NM_001142864.4(PIEZO1):c.4573C>G (p.Leu1525Val)	PIEZO1 (L1525V)	Single nucleotide variant (missense variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GUncertain significance
Select item 3362637	NM_001142864.4(PIEZO1):c.157del (p.Gln53fs)	PIEZO1 (Q53fs)	Deletion (frameshift variant)	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	GLikely pathogenic
Select item 3361930	NC_000016.10:g.88715070C>T	PIEZO1 (P394L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359904	NM_001142864.4(PIEZO1):c.2966TCT[2] (p.Phe991del)	PIEZO1 (F991del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3359813	NM_001142864.4(PIEZO1):c.7025T>A (p.Leu2342His)	PIEZO1 (L2342H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357543	NM_001142864.4(PIEZO1):c.2727G>A (p.Gly909=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3355980	NM_001142864.4(PIEZO1):c.1263C>T (p.Asp421=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3355908	NM_001142864.4(PIEZO1):c.566G>A (p.Arg189Gln)	HSALR1, PIEZO1 (R189Q)	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GUncertain significance
Select item 3353059	NM_001142864.4(PIEZO1):c.919G>T (p.Gly307Cys)	HSALR1, PIEZO1 (G307C)	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GUncertain significance
Select item 3352700	NM_001142864.4(PIEZO1):c.1311C>G (p.Thr437=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3352103	NM_001142864.4(PIEZO1):c.2218_2229dup (p.Glu743_His744insGluGlnGlnGlu)	HSALR1, PIEZO1	Duplication (inframe_insertion)	PIEZO1-related disorder	GUncertain significance
Select item 3350632	NM_001142864.4(PIEZO1):c.559C>T (p.Arg187Cys)	HSALR1, PIEZO1 (R187C)	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GUncertain significance
Select item 3347327	NM_001142864.4(PIEZO1):c.2321T>C (p.Val774Ala)	HSALR1, PIEZO1 (V774A)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 3345702	NM_001142864.4(PIEZO1):c.1521G>C (p.Glu507Asp)	HSALR1, PIEZO1 (E507D)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 3306438	NM_001142864.4(PIEZO1):c.901G>A (p.Ala301Thr)	HSALR1, PIEZO1 (A301T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306435	NM_001142864.4(PIEZO1):c.3046A>C (p.Thr1016Pro)	HSALR1, PIEZO1 (T1016P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306434	NM_001142864.4(PIEZO1):c.2666C>T (p.Pro889Leu)	HSALR1, PIEZO1 (P889L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306431	NM_001142864.4(PIEZO1):c.914A>G (p.Asn305Ser)	HSALR1, PIEZO1 (N305S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306429	NM_001142864.4(PIEZO1):c.2653A>T (p.Asn885Tyr)	HSALR1, PIEZO1 (N885Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306428	NM_001142864.4(PIEZO1):c.1237C>A (p.His413Asn)	HSALR1, PIEZO1 (H413N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306426	NM_001142864.4(PIEZO1):c.2660C>T (p.Thr887Ile)	HSALR1, PIEZO1 (T887I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306424	NM_001142864.4(PIEZO1):c.908T>A (p.Val303Asp)	HSALR1, PIEZO1 (V303D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306419	NM_001142864.4(PIEZO1):c.1000G>A (p.Ala334Thr)	HSALR1, PIEZO1 (A334T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3306417	NM_001142864.4(PIEZO1):c.2062G>A (p.Gly688Ser)	HSALR1, PIEZO1 (G688S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257026	NM_001142864.4(PIEZO1):c.1849-5G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 3234278	NM_001142864.4(PIEZO1):c.1047G>A (p.Glu349=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 3061110	NM_001142864.4(PIEZO1):c.2648C>A (p.Ser883Tyr)	HSALR1, PIEZO1 (S397Y +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 3058702	NM_001142864.4(PIEZO1):c.539G>A (p.Arg180Gln)	HSALR1, PIEZO1 (R180Q)	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GUncertain significance
Select item 3055237	NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[4]	HSALR1, PIEZO1	Microsatellite (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3054923	NM_001142864.4(PIEZO1):c.951C>G (p.Gly317=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GLikely benign
Select item 3054553	NM_001142864.4(PIEZO1):c.2180+3G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3052096	NM_001142864.4(PIEZO1):c.2274C>T (p.Ser758=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3051695	NM_001142864.4(PIEZO1):c.1401G>A (p.Ser467=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3050490	NM_001142864.4(PIEZO1):c.1731C>T (p.Ala577=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3049871	NM_001142864.4(PIEZO1):c.2202C>T (p.Thr734=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3048811	NM_001142864.4(PIEZO1):c.972C>T (p.Tyr324=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GLikely benign
Select item 3048798	NM_001142864.4(PIEZO1):c.648C>T (p.Pro216=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3048218	NM_001142864.4(PIEZO1):c.2967C>T (p.Phe989=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3047858	NM_001142864.4(PIEZO1):c.2355T>C (p.Ala785=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3045903	NM_001142864.4(PIEZO1):c.848+8C>T	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GLikely benign
Select item 3045585	NM_001142864.4(PIEZO1):c.3183G>A (p.Pro1061=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3045584	NM_001142864.4(PIEZO1):c.2181-7C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3045018	NM_001142864.4(PIEZO1):c.2488-66CCCAAGCCCAGCCCCACGTGCCCACTGCCCTC[3]	HSALR1, PIEZO1	Microsatellite (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3043344	NM_001142864.4(PIEZO1):c.1093C>T (p.Arg365Trp)	HSALR1, PIEZO1 (R365W)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 3041024	NM_001142864.4(PIEZO1):c.2791-4G>A	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3038760	NM_001142864.4(PIEZO1):c.2111C>T (p.Pro704Leu)	HSALR1, PIEZO1 (P219L +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 3036831	NM_001142864.4(PIEZO1):c.480G>A (p.Arg160=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GLikely benign
Select item 3036193	NM_001142864.4(PIEZO1):c.2791-6C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GUncertain significance
Select item 3035961	NM_001142864.4(PIEZO1):c.2097C>T (p.His699=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3032713	NM_001142864.4(PIEZO1):c.1670-7C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3032493	NM_001142864.4(PIEZO1):c.3138G>A (p.Ala1046=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3032154	NM_001142864.4(PIEZO1):c.2992-10C>T	HSALR1, PIEZO1	Single nucleotide variant (intron variant)	PIEZO1-related disorder	GLikely benign
Select item 3029766	NM_001142864.4(PIEZO1):c.2544A>G (p.Pro848=)	PIEZO1, HSALR1	Single nucleotide variant (synonymous variant)	PIEZO1-related disorder	GLikely benign
Select item 3029436	NM_001142864.4(PIEZO1):c.526C>G (p.Leu176Val)	HSALR1, PIEZO1 (L176V)	Single nucleotide variant (non-coding transcript variant +1 more)	PIEZO1-related disorder	GUncertain significance
Select item 3027237	NM_001142864.4(PIEZO1):c.1782C>A (p.Ala594=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025644	NM_001142864.4(PIEZO1):c.1908C>T (p.Tyr636=)	HSALR1, PIEZO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022932	NM_001142864.4(PIEZO1):c.600G>A (p.Gly200=)	HSALR1, PIEZO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3021784	NM_001142864.4(PIEZO1):c.1296+34CCTCTGCCGCGCAGGTGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCAGCTGTGCAGCCC[2]	HSALR1, PIEZO1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3017237	NM_001142864.4(PIEZO1):c.2285G>A (p.Gly762Glu)	HSALR1, PIEZO1 (G762E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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