ClinVar for Gene (Select 463) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 506

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376146	NM_006885.4(ZFHX3):c.2143C>T (p.Arg715Ter)	ZFHX3 (R715*)	Single nucleotide variant (nonsense +1 more)	ZFHX3-associated neurodevelopmental disorder	GLikely pathogenic
Select item 3375505	NM_006885.4(ZFHX3):c.2077A>G (p.Lys693Glu)	ZFHX3 (K693E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373377	NM_006885.4(ZFHX3):c.3916G>A (p.Val1306Ile)	ZFHX3, ZFHX3-AS1 (V1306I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372126	NM_006885.4(ZFHX3):c.4834G>T (p.Glu1612Ter)	ZFHX3-AS1, ZFHX3 (E1612* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371922	NM_006885.4(ZFHX3):c.8781del (p.Pro2928fs)	ZFHX3, ZFHX3-AS1 (P2014fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3370165	NM_006885.4(ZFHX3):c.6779dup (p.Phe2261fs)	ZFHX3, ZFHX3-AS1 (F1347fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3369181	NM_006885.4(ZFHX3):c.6959A>G (p.Tyr2320Cys)	ZFHX3, ZFHX3-AS1 (Y1406C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369015	NM_006885.4(ZFHX3):c.5255T>A (p.Val1752Asp)	ZFHX3, ZFHX3-AS1 (V1752D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367883	NM_006885.4(ZFHX3):c.8480A>C (p.Gln2827Pro)	ZFHX3, ZFHX3-AS1 (Q1913P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365752	NM_006885.4(ZFHX3):c.7901GAG[1] (p.Gly2635del)	ZFHX3, ZFHX3-AS1 (G1721del +1 more)	Microsatellite	not provided	GUncertain significance
Select item 3365201	NM_006885.4(ZFHX3):c.355dup (p.Glu119fs)	ZFHX3 (E119fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3364538	NM_006885.4(ZFHX3):c.2927G>C (p.Trp976Ser)	ZFHX3 (W62S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363400	NM_006885.4(ZFHX3):c.1168C>T (p.Pro390Ser)	ZFHX3 (P390S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362207	NM_006885.4(ZFHX3):c.4073C>G (p.Ser1358Ter)	ZFHX3 (S1358* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3361474	NM_006885.4(ZFHX3):c.6851G>A (p.Arg2284Gln)	ZFHX3 (R1370Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360830	NM_006885.4(ZFHX3):c.4384C>T (p.Gln1462Ter)	ZFHX3 (Q1462* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3357331	NM_006885.4(ZFHX3):c.8432A>T (p.Glu2811Val)	ZFHX3, ZFHX3-AS1 (E1897V +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related disorder	GUncertain significance
Select item 3349897	NM_006885.4(ZFHX3):c.5697dup (p.Glu1900fs)	ZFHX3, ZFHX3-AS1 (E1900fs +1 more)	Duplication (frameshift variant)	ZFHX3-related disorder	GLikely pathogenic
Select item 3346537	NM_006885.4(ZFHX3):c.2287dup (p.Glu763fs)	ZFHX3 (E763fs)	Duplication (frameshift variant +1 more)	ZFHX3-related disorder	GLikely pathogenic
Select item 3345350	NM_006885.4(ZFHX3):c.8798C>A (p.Ser2933Tyr)	ZFHX3, ZFHX3-AS1 (S2019Y +1 more)	Single nucleotide variant (missense variant)	ZFHX3-related disorder	GUncertain significance
Select item 3343044	NM_006885.4(ZFHX3):c.77_80del (p.Glu26fs)	ZFHX3 (E26fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3342947	NM_006885.4(ZFHX3):c.4705C>T (p.His1569Tyr)	ZFHX3, ZFHX3-AS1 (H1569Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342890	NM_006885.4(ZFHX3):c.6167C>T (p.Pro2056Leu)	ZFHX3, ZFHX3-AS1 (P1142L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342883	NM_006885.4(ZFHX3):c.5902del (p.Gln1968fs)	ZFHX3, ZFHX3-AS1 (Q1054fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342818	NM_006885.4(ZFHX3):c.6905A>C (p.Glu2302Ala)	ZFHX3, ZFHX3-AS1 (E1388A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342811	NM_006885.4(ZFHX3):c.9707_9710del (p.Asp3236fs)	ZFHX3, ZFHX3-AS1 (D2322fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342785	NM_006885.4(ZFHX3):c.5410A>G (p.Ser1804Gly)	ZFHX3, ZFHX3-AS1 (S1804G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342708	NM_006885.4(ZFHX3):c.3989del (p.Lys1330fs)	ZFHX3, ZFHX3-AS1 (K1330fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342691	NM_006885.4(ZFHX3):c.10777_10778del (p.Ser3593fs)	ZFHX3, ZFHX3-AS1 (S2679fs +1 more)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342650	NM_006885.4(ZFHX3):c.2258del (p.Asn753fs)	ZFHX3 (N753fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3342639	NM_006885.4(ZFHX3):c.3306C>A (p.Asn1102Lys)	ZFHX3 (N1102K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342586	NM_006885.4(ZFHX3):c.3967+5G>A	ZFHX3, ZFHX3-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3342578	NM_006885.4(ZFHX3):c.11078dup (p.Thr3694fs)	ZFHX3, ZFHX3-AS1 (T2780fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3342546	NM_006885.4(ZFHX3):c.3638del (p.Thr1213fs)	ZFHX3, ZFHX3-AS1 (T1213fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342544	NM_006885.4(ZFHX3):c.5170C>T (p.Gln1724Ter)	ZFHX3, ZFHX3-AS1 (Q1724* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3342502	NM_006885.4(ZFHX3):c.7891dup (p.Ser2631fs)	ZFHX3, ZFHX3-AS1 (S1717fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3342493	NM_006885.4(ZFHX3):c.7733A>G (p.Asp2578Gly)	ZFHX3, ZFHX3-AS1 (D1664G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342395	NM_006885.4(ZFHX3):c.4801del (p.Cys1601fs)	ZFHX3, ZFHX3-AS1 (C1601fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342393	NM_006885.4(ZFHX3):c.4099dup (p.Cys1367fs)	ZFHX3, ZFHX3-AS1 (C1367fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3340720	NM_006885.4(ZFHX3):c.1114C>T (p.Arg372Ter)	ZFHX3 (R372*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3336821	NM_006885.4(ZFHX3):c.1540G>A (p.Ala514Thr)	ZFHX3 (A514T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336820	NM_006885.4(ZFHX3):c.3039G>A (p.Gln1013=)	ZFHX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3334393	NM_006885.4(ZFHX3):c.10349A>C (p.Asp3450Ala)	ZFHX3, ZFHX3-AS1 (D3450A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334392	NM_006885.4(ZFHX3):c.3707A>C (p.Asn1236Thr)	ZFHX3, ZFHX3-AS1 (N322T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334390	NM_006885.4(ZFHX3):c.146C>T (p.Pro49Leu)	ZFHX3 (P49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334389	NM_006885.4(ZFHX3):c.9214G>A (p.Val3072Ile)	ZFHX3, ZFHX3-AS1 (V3072I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334388	NM_006885.4(ZFHX3):c.335G>T (p.Ser112Ile)	ZFHX3 (S112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334387	NM_006885.4(ZFHX3):c.10125T>G (p.Ile3375Met)	ZFHX3, ZFHX3-AS1 (I2461M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334386	NM_006885.4(ZFHX3):c.4193T>G (p.Val1398Gly)	ZFHX3, ZFHX3-AS1 (V484G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334385	NM_006885.4(ZFHX3):c.10930A>C (p.Ser3644Arg)	ZFHX3, ZFHX3-AS1 (S2730R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334384	NM_006885.4(ZFHX3):c.1601C>T (p.Pro534Leu)	ZFHX3 (P534L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334383	NM_006885.4(ZFHX3):c.2386A>G (p.Thr796Ala)	ZFHX3 (T796A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334382	NM_006885.4(ZFHX3):c.6698C>T (p.Pro2233Leu)	ZFHX3, ZFHX3-AS1 (P2233L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334381	NM_006885.4(ZFHX3):c.11056A>G (p.Ser3686Gly)	ZFHX3, ZFHX3-AS1 (S3686G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334380	NM_006885.4(ZFHX3):c.11052C>G (p.Asp3684Glu)	ZFHX3, ZFHX3-AS1 (D3684E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334379	NM_006885.4(ZFHX3):c.11048A>G (p.Lys3683Arg)	ZFHX3, ZFHX3-AS1 (K2769R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334378	NM_006885.4(ZFHX3):c.11047A>C (p.Lys3683Gln)	ZFHX3, ZFHX3-AS1 (K2769Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334377	NM_006885.4(ZFHX3):c.10876G>C (p.Ala3626Pro)	ZFHX3, ZFHX3-AS1 (A3626P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334376	NM_006885.4(ZFHX3):c.10873T>C (p.Ser3625Pro)	ZFHX3, ZFHX3-AS1 (S3625P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334375	NM_006885.4(ZFHX3):c.10864T>C (p.Ser3622Pro)	ZFHX3, ZFHX3-AS1 (S3622P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334374	NM_006885.4(ZFHX3):c.3701A>G (p.Asp1234Gly)	ZFHX3, ZFHX3-AS1 (D1234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334373	NM_006885.4(ZFHX3):c.10538G>C (p.Ser3513Thr)	ZFHX3, ZFHX3-AS1 (S2599T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334372	NM_006885.4(ZFHX3):c.9018A>C (p.Leu3006Phe)	ZFHX3, ZFHX3-AS1 (L2092F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334371	NM_006885.4(ZFHX3):c.11036T>C (p.Val3679Ala)	ZFHX3, ZFHX3-AS1 (V2765A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334370	NM_006885.4(ZFHX3):c.2686G>A (p.Ala896Thr)	ZFHX3 (A896T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3334369	NM_006885.4(ZFHX3):c.10880C>G (p.Ala3627Gly)	ZFHX3, ZFHX3-AS1 (A2713G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334368	NM_006885.4(ZFHX3):c.10885C>T (p.Pro3629Ser)	ZFHX3, ZFHX3-AS1 (P2715S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3334367	NM_006885.4(ZFHX3):c.9497C>T (p.Thr3166Ile)	ZFHX3, ZFHX3-AS1 (T2252I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334366	NM_006885.4(ZFHX3):c.6184C>G (p.Pro2062Ala)	ZFHX3, ZFHX3-AS1 (P2062A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334365	NM_006885.4(ZFHX3):c.5877G>C (p.Gln1959His)	ZFHX3, ZFHX3-AS1 (Q1045H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334364	NM_006885.4(ZFHX3):c.7208C>T (p.Ser2403Phe)	ZFHX3, ZFHX3-AS1 (S1489F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334363	NM_006885.4(ZFHX3):c.3539G>C (p.Ser1180Thr)	ZFHX3, ZFHX3-AS1 (S1180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334362	NM_006885.4(ZFHX3):c.10301T>C (p.Leu3434Pro)	ZFHX3, ZFHX3-AS1 (L3434P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257279	NM_006885.4(ZFHX3):c.1650T>C (p.Thr550=)	ZFHX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3257102	NM_006885.4(ZFHX3):c.3344G>A (p.Ser1115Asn)	ZFHX3 (S1115N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252855	NM_006885.4(ZFHX3):c.10436C>A (p.Ala3479Glu)	ZFHX3, ZFHX3-AS1 (A2565E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236590	NM_006885.4(ZFHX3):c.76G>T (p.Glu26Ter)	ZFHX3 (E26*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3234463	NM_006885.4(ZFHX3):c.9582A>G (p.Gln3194=)	ZFHX3, ZFHX3-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3233763	NM_006885.4(ZFHX3):c.2815G>A (p.Asp939Asn)	ZFHX3 (D25N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193021	NM_006885.4(ZFHX3):c.9590A>C (p.Gln3197Pro)	ZFHX3, ZFHX3-AS1 (Q2283P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193020	NM_006885.4(ZFHX3):c.9350C>T (p.Ala3117Val)	ZFHX3, ZFHX3-AS1 (A3117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193019	NM_006885.4(ZFHX3):c.923C>T (p.Thr308Ile)	ZFHX3 (T308I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193017	NM_006885.4(ZFHX3):c.8645C>T (p.Ala2882Val)	ZFHX3, ZFHX3-AS1 (A1968V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193016	NM_006885.4(ZFHX3):c.8474T>G (p.Phe2825Cys)	ZFHX3, ZFHX3-AS1 (F2825C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193015	NM_006885.4(ZFHX3):c.8372C>G (p.Thr2791Ser)	ZFHX3, ZFHX3-AS1 (T1877S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193014	NM_006885.4(ZFHX3):c.8248A>G (p.Met2750Val)	ZFHX3, ZFHX3-AS1 (M1836V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193012	NM_006885.4(ZFHX3):c.7915C>G (p.Gln2639Glu)	ZFHX3-AS1, ZFHX3 (Q1725E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193011	NM_006885.4(ZFHX3):c.7913C>T (p.Pro2638Leu)	ZFHX3, ZFHX3-AS1 (P1724L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193010	NM_006885.4(ZFHX3):c.788A>G (p.Asn263Ser)	ZFHX3 (N263S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193009	NM_006885.4(ZFHX3):c.6974A>C (p.Asn2325Thr)	ZFHX3, ZFHX3-AS1 (N2325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193008	NM_006885.4(ZFHX3):c.6787G>A (p.Ala2263Thr)	ZFHX3, ZFHX3-AS1 (A1349T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193006	NM_006885.4(ZFHX3):c.6646A>G (p.Ile2216Val)	ZFHX3, ZFHX3-AS1 (I1302V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193005	NM_006885.4(ZFHX3):c.643T>C (p.Phe215Leu)	ZFHX3 (F215L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193004	NM_006885.4(ZFHX3):c.6247G>A (p.Val2083Met)	ZFHX3, ZFHX3-AS1 (V1169M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193000	NM_006885.4(ZFHX3):c.5760G>C (p.Glu1920Asp)	ZFHX3, ZFHX3-AS1 (E1006D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192999	NM_006885.4(ZFHX3):c.5565G>T (p.Gln1855His)	ZFHX3, ZFHX3-AS1 (Q1855H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192998	NM_006885.4(ZFHX3):c.5532G>C (p.Gln1844His)	ZFHX3, ZFHX3-AS1 (Q1844H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192997	NM_006885.4(ZFHX3):c.5434G>A (p.Glu1812Lys)	ZFHX3, ZFHX3-AS1 (E1812K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192995	NM_006885.4(ZFHX3):c.4645G>C (p.Val1549Leu)	ZFHX3, ZFHX3-AS1 (V1549L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192994	NM_006885.4(ZFHX3):c.4072T>G (p.Ser1358Ala)	ZFHX3, ZFHX3-AS1 (S1358A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 6