ClinVar for Gene (Select 63895) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352937	NM_001378183.1(PIEZO2):c.8267C>T (p.Pro2756Leu)	PIEZO2 (P2643L +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 3352857	NM_001378183.1(PIEZO2):c.7952+8C>T	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder	GLikely benign
Select item 3352206	NM_001378183.1(PIEZO2):c.2101G>A (p.Glu701Lys)	PIEZO2 (E701K)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 3352005	NM_001378183.1(PIEZO2):c.383G>A (p.Gly128Glu)	PIEZO2 (G128E)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GUncertain significance
Select item 3345071	NM_001378183.1(PIEZO2):c.7222T>C (p.Trp2408Arg)	PIEZO2 (W2295R +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GLikely pathogenic
Select item 3343132	NM_001378183.1(PIEZO2):c.7502A>G (p.Tyr2501Cys)	PIEZO2 (Y2388C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341339	NM_001378183.1(PIEZO2):c.2117T>A (p.Met706Lys)	PIEZO2 (M706K)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GUncertain significance
Select item 3340988	NM_001378183.1(PIEZO2):c.7049T>C (p.Val2350Ala)	PIEZO2 (V2237A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340925	NM_001378183.1(PIEZO2):c.4252G>T (p.Gly1418Cys)	PIEZO2 (G1393C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340648	NM_001378183.1(PIEZO2):c.8486dup (p.Leu2829fs)	PIEZO2 (L2716fs +2 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3340624	NM_001378183.1(PIEZO2):c.3069G>A (p.Met1023Ile)	PIEZO2 (M1023I +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3339657	NM_001378183.1(PIEZO2):c.2007G>T (p.Gln669His)	PIEZO2 (Q669H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339594	NM_001378183.1(PIEZO2):c.127C>G (p.Leu43Val)	PIEZO2 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338509	NM_001378183.1(PIEZO2):c.7034C>G (p.Pro2345Arg)	PIEZO2 (P2232R +2 more)	Single nucleotide variant (missense variant)	PIEZO2-related disorder	GLikely pathogenic
Select item 3336476	NC_000018.9:g.(?_10670243)_(10750186_10752633)dup	PIEZO2	Duplication	not specified	GUncertain significance
Select item 3306460	NM_001378183.1(PIEZO2):c.1110C>A (p.Asp370Glu)	PIEZO2 (D370E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306459	NM_001378183.1(PIEZO2):c.6130A>G (p.Ile2044Val)	PIEZO2 (I1956V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306458	NM_001378183.1(PIEZO2):c.47C>T (p.Pro16Leu)	PIEZO2 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306457	NM_001378183.1(PIEZO2):c.6493G>A (p.Glu2165Lys)	PIEZO2 (E2165K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306456	NM_001378183.1(PIEZO2):c.8027A>C (p.Lys2676Thr)	PIEZO2 (K2563T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306455	NM_001378183.1(PIEZO2):c.1361C>T (p.Pro454Leu)	PIEZO2 (P454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306453	NM_001378183.1(PIEZO2):c.277G>A (p.Gly93Ser)	PIEZO2 (G93S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306452	NM_001378183.1(PIEZO2):c.7360G>A (p.Val2454Met)	PIEZO2 (V2366M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306451	NM_001378183.1(PIEZO2):c.7996C>T (p.Leu2666Phe)	PIEZO2 (L2553F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306450	NM_001378183.1(PIEZO2):c.6142A>G (p.Met2048Val)	PIEZO2 (M1935V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306449	NM_001378183.1(PIEZO2):c.6943A>G (p.Ile2315Val)	PIEZO2 (I2315V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3306448	NM_001378183.1(PIEZO2):c.1307A>G (p.Glu436Gly)	PIEZO2 (E436G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306447	NM_001378183.1(PIEZO2):c.3122T>C (p.Leu1041Ser)	PIEZO2 (L1016S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306446	NM_001378183.1(PIEZO2):c.6544G>A (p.Asp2182Asn)	PIEZO2 (D2069N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306445	NM_001378183.1(PIEZO2):c.385A>T (p.Met129Leu)	PIEZO2 (M129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306443	NM_001378183.1(PIEZO2):c.6208G>A (p.Val2070Ile)	PIEZO2 (V2070I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306442	NM_001378183.1(PIEZO2):c.479A>C (p.Glu160Ala)	PIEZO2 (E160A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306441	NM_001378183.1(PIEZO2):c.1912G>A (p.Gly638Arg)	PIEZO2 (G638R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306440	NM_001378183.1(PIEZO2):c.6405G>T (p.Gln2135His)	PIEZO2 (Q2047H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306439	NM_001378183.1(PIEZO2):c.2636C>T (p.Pro879Leu)	PIEZO2 (P854L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253404	NM_001378183.1(PIEZO2):c.7550T>G (p.Met2517Arg)	PIEZO2 (M2404R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253159	NM_001378183.1(PIEZO2):c.3217C>T (p.Arg1073Trp)	PIEZO2 (R1048W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252617	NM_001378183.1(PIEZO2):c.3923G>A (p.Arg1308Lys)	PIEZO2 (R1283K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252460	NM_001378183.1(PIEZO2):c.2587A>T (p.Ser863Cys)	PIEZO2 (S838C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252164	NM_001378183.1(PIEZO2):c.8161+5G>C	PIEZO2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251444	NM_001378183.1(PIEZO2):c.3479T>C (p.Ile1160Thr)	PIEZO2 (I1135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251022	NM_001378183.1(PIEZO2):c.1454A>T (p.Lys485Ile)	PIEZO2 (K485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242099	NM_001378183.1(PIEZO2):c.1231C>T (p.Pro411Ser)	PIEZO2 (P411S)	Single nucleotide variant (missense variant)	Marden-Walker syndrome	GUncertain significance
Select item 3239353	NM_001378183.1(PIEZO2):c.8467T>C (p.Leu2823=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239279	NM_001378183.1(PIEZO2):c.3201A>T (p.Thr1067=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236262	NM_001378183.1(PIEZO2):c.350_351del (p.Gly117fs)	PIEZO2 (G117fs)	Deletion (frameshift variant)	Gordon syndrome	GLikely pathogenic
Select item 3236261	NM_001378183.1(PIEZO2):c.1484T>G (p.Phe495Cys)	PIEZO2 (F495C)	Single nucleotide variant (missense variant)	Gordon syndrome	GLikely pathogenic
Select item 3236108	NM_001378183.1(PIEZO2):c.3562G>T (p.Ala1188Ser)	PIEZO2 (A1163S +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome	GUncertain significance
Select item 3234680	NM_001378183.1(PIEZO2):c.4599C>T (p.Gly1533=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3234561	NM_001378183.1(PIEZO2):c.1065G>A (p.Trp355Ter)	PIEZO2 (W355*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3233559	NM_001378183.1(PIEZO2):c.5347G>C (p.Glu1783Gln)	PIEZO2 (E1725Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233558	NM_001378183.1(PIEZO2):c.5090-20G>T	PIEZO2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3212745	NM_001378183.1(PIEZO2):c.880T>C (p.Phe294Leu)	PIEZO2 (F294L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212744	NM_001378183.1(PIEZO2):c.8253C>G (p.Asn2751Lys)	PIEZO2 (N2663K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212743	NM_001378183.1(PIEZO2):c.8060C>A (p.Thr2687Lys)	PIEZO2 (T2687K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212742	NM_001378183.1(PIEZO2):c.7996C>A (p.Leu2666Ile)	PIEZO2 (L2553I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212741	NM_001378183.1(PIEZO2):c.7687C>A (p.Pro2563Thr)	PIEZO2 (P2563T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212740	NM_001378183.1(PIEZO2):c.7341A>T (p.Leu2447Phe)	PIEZO2 (L2359F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212739	NM_001378183.1(PIEZO2):c.7177G>A (p.Gly2393Ser)	PIEZO2 (G2280S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212737	NM_001378183.1(PIEZO2):c.673G>A (p.Val225Ile)	PIEZO2 (V225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212736	NM_001378183.1(PIEZO2):c.6842A>G (p.Tyr2281Cys)	PIEZO2 (Y2168C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212735	NM_001378183.1(PIEZO2):c.6471G>A (p.Met2157Ile)	PIEZO2 (M2157I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212734	NM_001378183.1(PIEZO2):c.6376G>A (p.Glu2126Lys)	PIEZO2 (E2038K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212732	NM_001378183.1(PIEZO2):c.6119A>G (p.Tyr2040Cys)	PIEZO2 (Y1952C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212731	NM_001378183.1(PIEZO2):c.6097G>T (p.Ala2033Ser)	PIEZO2 (A1920S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212730	NM_001378183.1(PIEZO2):c.5916C>A (p.Asp1972Glu)	PIEZO2 (D1859E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212729	NM_001378183.1(PIEZO2):c.5896C>T (p.Arg1966Cys)	PIEZO2 (R1966C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212728	NM_001378183.1(PIEZO2):c.5744T>C (p.Met1915Thr)	PIEZO2 (M1802T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212727	NM_001378183.1(PIEZO2):c.5068A>G (p.Lys1690Glu)	PIEZO2 (K1690E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212726	NM_001378183.1(PIEZO2):c.3580T>G (p.Tyr1194Asp)	PIEZO2 (Y1169D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212725	NM_001378183.1(PIEZO2):c.3241T>C (p.Tyr1081His)	PIEZO2 (Y1056H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212724	NM_001378183.1(PIEZO2):c.3071T>C (p.Leu1024Ser)	PIEZO2 (L999S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212723	NM_001378183.1(PIEZO2):c.2886T>G (p.Ile962Met)	LOC126862696, PIEZO2 (I937M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212722	NM_001378183.1(PIEZO2):c.2024T>C (p.Leu675Pro)	PIEZO2 (L675P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212721	NM_001378183.1(PIEZO2):c.1943C>T (p.Ala648Val)	PIEZO2 (A648V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212720	NM_001378183.1(PIEZO2):c.1782G>T (p.Trp594Cys)	PIEZO2 (W594C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212719	NM_001378183.1(PIEZO2):c.1354T>C (p.Trp452Arg)	PIEZO2 (W452R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075669	NM_001378183.1(PIEZO2):c.4458_4466del (p.1485VKA[1])	PIEZO2	Deletion (inframe_deletion)	Heterotaxy, visceral, 4, autosomal	GLikely pathogenic
Select item 3067380	NM_001378183.1(PIEZO2):c.5228G>A (p.Arg1743Gln)	PIEZO2 (R1685Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065067	NM_001378183.1(PIEZO2):c.1201-2A>G	PIEZO2	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, with impaired proprioception and touch	GLikely pathogenic
Select item 3064876	NM_001378183.1(PIEZO2):c.6010G>A (p.Asp2004Asn)	PIEZO2 (D1891N +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, with impaired proprioception and touch	GUncertain significance
Select item 3063751	NM_001378183.1(PIEZO2):c.6775A>G (p.Met2259Val)	PIEZO2 (M2146V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063750	NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe)	PIEZO2 (Y2626F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 3053016	NM_001378183.1(PIEZO2):c.6540C>T (p.Ser2180=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3051703	NM_001378183.1(PIEZO2):c.3123+9C>T	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder	GLikely benign
Select item 3047356	NM_001378183.1(PIEZO2):c.7092C>T (p.Tyr2364=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3047046	NM_001378183.1(PIEZO2):c.5130C>T (p.Thr1710=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3039612	NM_001378183.1(PIEZO2):c.6969C>A (p.Ala2323=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3034482	NM_001378183.1(PIEZO2):c.1882+10T>C	PIEZO2	Single nucleotide variant (intron variant)	PIEZO2-related disorder	GBenign
Select item 3034252	NM_001378183.1(PIEZO2):c.7002C>T (p.Thr2334=)	PIEZO2	Single nucleotide variant (synonymous variant)	PIEZO2-related disorder	GLikely benign
Select item 3034053	NM_001378183.1(PIEZO2):c.3157G>T (p.Glu1053Ter)	PIEZO2 (E1028* +1 more)	Single nucleotide variant (nonsense)	PIEZO2-related disorder	GLikely pathogenic
Select item 3029466	NM_022068.3(PIEZO2):c.287delG	PIEZO2	Deletion	PIEZO2-related disorder	GLikely pathogenic
Select item 3026748	NM_001378183.1(PIEZO2):c.900C>T (p.Pro300=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025389	NM_001378183.1(PIEZO2):c.2997G>A (p.Pro999=)	PIEZO2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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