Related gene-specific medical variations for Gene (Select 79178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358810	NM_033400.3(ZFHX2):c.7548C>T (p.Ser2516=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3342069	NM_033400.3(ZFHX2):c.5680G>A (p.Val1894Met)	ZFHX2, THTPA (V1894M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341852	NM_033400.3(ZFHX2):c.4079A>T (p.Gln1360Leu)	THTPA, ZFHX2 (Q1360L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3341639	NM_033400.3(ZFHX2):c.5413C>T (p.Leu1805=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334361	NM_033400.3(ZFHX2):c.7058C>T (p.Ala2353Val)	THTPA, ZFHX2 (A2353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334360	NM_033400.3(ZFHX2):c.4210G>C (p.Glu1404Gln)	THTPA, ZFHX2 (E1404Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334359	NM_033400.3(ZFHX2):c.3023A>C (p.Lys1008Thr)	THTPA, ZFHX2 (K1008T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334358	NM_033400.3(ZFHX2):c.2027A>C (p.Lys676Thr)	THTPA, ZFHX2 (K676T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334357	NM_033400.3(ZFHX2):c.5582G>A (p.Arg1861His)	THTPA, ZFHX2 (R1861H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334356	NM_033400.3(ZFHX2):c.4986C>T (p.Thr1662=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3334355	NM_033400.3(ZFHX2):c.1339C>G (p.Arg447Gly)	THTPA, ZFHX2 (R447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334354	NM_033400.3(ZFHX2):c.5650C>T (p.Arg1884Cys)	THTPA, ZFHX2 (R1884C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334353	NM_033400.3(ZFHX2):c.6899C>G (p.Pro2300Arg)	THTPA, ZFHX2 (P2300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334352	NM_033400.3(ZFHX2):c.2806G>T (p.Ala936Ser)	THTPA, ZFHX2 (A936S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334351	NM_033400.3(ZFHX2):c.4990G>A (p.Gly1664Arg)	THTPA, ZFHX2 (G1664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334350	NM_033400.3(ZFHX2):c.2866G>A (p.Glu956Lys)	THTPA, ZFHX2 (E956K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334349	NM_033400.3(ZFHX2):c.1258C>T (p.Arg420Cys)	THTPA, ZFHX2 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334348	NM_033400.3(ZFHX2):c.7550C>T (p.Ser2517Leu)	THTPA, ZFHX2 (S2517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334347	NM_033400.3(ZFHX2):c.3929G>A (p.Gly1310Asp)	THTPA, ZFHX2 (G1310D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334346	NM_033400.3(ZFHX2):c.2684G>A (p.Arg895His)	THTPA, ZFHX2 (R895H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334345	NM_033400.3(ZFHX2):c.1819G>A (p.Gly607Ser)	THTPA, ZFHX2 (G607S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334344	NM_033400.3(ZFHX2):c.6317A>G (p.Lys2106Arg)	THTPA, ZFHX2 (K2106R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334343	NM_033400.3(ZFHX2):c.4040C>G (p.Pro1347Arg)	THTPA, ZFHX2 (P1347R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326028	NM_024328.6(THTPA):c.540C>A (p.Ser180Arg)	LOC130055368, THTPA (S180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326027	NM_024328.6(THTPA):c.539G>A (p.Ser180Asn)	LOC130055368, THTPA (S180N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250720	NM_033400.3(ZFHX2):c.5406C>T (p.Pro1802=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3239165	NM_033400.3(ZFHX2):c.5028C>T (p.His1676=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234791	NM_033400.3(ZFHX2):c.1034C>T (p.Pro345Leu)	THTPA, ZFHX2 (P345L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234494	NM_033400.3(ZFHX2):c.387C>A (p.Ser129=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234406	NM_033400.3(ZFHX2):c.4092C>G (p.Leu1364=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192967	NM_033400.3(ZFHX2):c.892G>C (p.Ala298Pro)	THTPA, ZFHX2 (A298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192966	NM_033400.3(ZFHX2):c.7670C>T (p.Thr2557Met)	THTPA, ZFHX2 (T2557M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192965	NM_033400.3(ZFHX2):c.7577C>T (p.Pro2526Leu)	THTPA, ZFHX2 (P2526L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192964	NM_033400.3(ZFHX2):c.7561C>T (p.Arg2521Cys)	THTPA, ZFHX2 (R2521C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192963	NM_033400.3(ZFHX2):c.7540C>A (p.Leu2514Met)	THTPA, ZFHX2 (L2514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192962	NM_033400.3(ZFHX2):c.7424T>G (p.Phe2475Cys)	THTPA, ZFHX2 (F2475C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192961	NM_033400.3(ZFHX2):c.7403C>T (p.Ala2468Val)	THTPA, ZFHX2 (A2468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192960	NM_033400.3(ZFHX2):c.7170G>T (p.Gln2390His)	THTPA, ZFHX2 (Q2390H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192959	NM_033400.3(ZFHX2):c.7084T>A (p.Phe2362Ile)	THTPA, ZFHX2 (F2362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192958	NM_033400.3(ZFHX2):c.6962G>A (p.Ser2321Asn)	THTPA, ZFHX2 (S2321N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192957	NM_033400.3(ZFHX2):c.6872C>T (p.Ala2291Val)	THTPA, ZFHX2 (A2291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192955	NM_033400.3(ZFHX2):c.685G>A (p.Gly229Arg)	THTPA, ZFHX2 (G229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192954	NM_033400.3(ZFHX2):c.6823C>T (p.Arg2275Cys)	THTPA, ZFHX2 (R2275C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192953	NM_033400.3(ZFHX2):c.6797C>T (p.Thr2266Ile)	THTPA, ZFHX2 (T2266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192952	NM_033400.3(ZFHX2):c.6388G>T (p.Ala2130Ser)	THTPA, ZFHX2 (A2130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192951	NM_033400.3(ZFHX2):c.5939T>C (p.Phe1980Ser)	THTPA, ZFHX2 (F1980S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192949	NM_033400.3(ZFHX2):c.5888C>A (p.Ala1963Glu)	THTPA, ZFHX2 (A1963E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192948	NM_033400.3(ZFHX2):c.5540G>A (p.Gly1847Glu)	THTPA, ZFHX2 (G1847E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192947	NM_033400.3(ZFHX2):c.5428C>G (p.Leu1810Val)	THTPA, ZFHX2 (L1810V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192946	NM_033400.3(ZFHX2):c.5402C>A (p.Pro1801His)	THTPA, ZFHX2 (P1801H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192945	NM_033400.3(ZFHX2):c.5396G>A (p.Ser1799Asn)	THTPA, ZFHX2 (S1799N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192944	NM_033400.3(ZFHX2):c.5366G>A (p.Arg1789Gln)	THTPA, ZFHX2 (R1789Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192943	NM_033400.3(ZFHX2):c.5227G>A (p.Glu1743Lys)	THTPA, ZFHX2 (E1743K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192942	NM_033400.3(ZFHX2):c.5085C>G (p.Asp1695Glu)	THTPA, ZFHX2 (D1695E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192941	NM_033400.3(ZFHX2):c.484C>A (p.Pro162Thr)	THTPA, ZFHX2 (P162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192940	NM_033400.3(ZFHX2):c.4786C>T (p.Arg1596Trp)	THTPA, ZFHX2 (R1596W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192939	NM_033400.3(ZFHX2):c.470T>C (p.Phe157Ser)	THTPA, ZFHX2 (F157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192938	NM_033400.3(ZFHX2):c.4541G>A (p.Arg1514His)	THTPA, ZFHX2 (R1514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192937	NM_033400.3(ZFHX2):c.451G>C (p.Glu151Gln)	THTPA, ZFHX2 (E151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192936	NM_033400.3(ZFHX2):c.4409C>A (p.Pro1470Gln)	THTPA, ZFHX2 (P1470Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192935	NM_033400.3(ZFHX2):c.4256G>T (p.Gly1419Val)	THTPA, ZFHX2 (G1419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192934	NM_033400.3(ZFHX2):c.4235G>A (p.Arg1412Gln)	THTPA, ZFHX2 (R1412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192933	NM_033400.3(ZFHX2):c.4123G>A (p.Gly1375Arg)	THTPA, ZFHX2 (G1375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192932	NM_033400.3(ZFHX2):c.3520C>T (p.Arg1174Trp)	THTPA, ZFHX2 (R1174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192931	NM_033400.3(ZFHX2):c.3485C>A (p.Pro1162Gln)	THTPA, ZFHX2 (P1162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192930	NM_033400.3(ZFHX2):c.3428C>T (p.Pro1143Leu)	THTPA, ZFHX2 (P1143L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192929	NM_033400.3(ZFHX2):c.3343C>A (p.Pro1115Thr)	THTPA, ZFHX2 (P1115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192928	NM_033400.3(ZFHX2):c.3331G>T (p.Val1111Phe)	THTPA, ZFHX2 (V1111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192927	NM_033400.3(ZFHX2):c.3317T>C (p.Leu1106Pro)	THTPA, ZFHX2 (L1106P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192926	NM_033400.3(ZFHX2):c.3242C>T (p.Pro1081Leu)	THTPA, ZFHX2 (P1081L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192925	NM_033400.3(ZFHX2):c.3133G>A (p.Val1045Ile)	THTPA, ZFHX2 (V1045I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192924	NM_033400.3(ZFHX2):c.2481C>G (p.Asp827Glu)	THTPA, ZFHX2 (D827E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192923	NM_033400.3(ZFHX2):c.2210A>C (p.Tyr737Ser)	THTPA, ZFHX2 (Y737S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192922	NM_033400.3(ZFHX2):c.2158C>T (p.Arg720Cys)	THTPA, ZFHX2 (R720C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192921	NM_033400.3(ZFHX2):c.2008G>A (p.Val670Ile)	THTPA, ZFHX2 (V670I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192920	NM_033400.3(ZFHX2):c.1922G>A (p.Gly641Glu)	THTPA, ZFHX2 (G641E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192919	NM_033400.3(ZFHX2):c.188C>T (p.Ser63Leu)	THTPA, ZFHX2 (S63L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192918	NM_033400.3(ZFHX2):c.1745G>A (p.Arg582His)	THTPA, ZFHX2 (R582H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192917	NM_033400.3(ZFHX2):c.1526G>A (p.Arg509His)	THTPA, ZFHX2 (R509H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192915	NM_033400.3(ZFHX2):c.1288G>A (p.Ala430Thr)	THTPA, ZFHX2 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192914	NM_033400.3(ZFHX2):c.1112G>A (p.Gly371Glu)	THTPA, ZFHX2 (G371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192913	NM_033400.3(ZFHX2):c.1052C>T (p.Ala351Val)	THTPA, ZFHX2 (A351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127455	NM_003917.5(AP1G2):c.2294A>G (p.His765Arg)	AP1G2, THTPA (H384R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3060269	NM_033400.3(ZFHX2):c.1648C>A (p.Pro550Thr)	THTPA, ZFHX2 (P550T)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GBenign
Select item 3058654	NM_033400.3(ZFHX2):c.3243G>A (p.Pro1081=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3057807	NM_033400.3(ZFHX2):c.5601G>A (p.Glu1867=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3056171	NM_033400.3(ZFHX2):c.5406C>A (p.Pro1802=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GBenign
Select item 3055284	NM_033400.3(ZFHX2):c.6503G>A (p.Arg2168His)	THTPA, ZFHX2 (R2168H)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GBenign
Select item 3052932	NM_033400.3(ZFHX2):c.6930C>T (p.Ser2310=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3052676	NM_033400.3(ZFHX2):c.5565C>G (p.Pro1855=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3050577	NM_033400.3(ZFHX2):c.6381G>C (p.Gly2127=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3049654	NM_033400.3(ZFHX2):c.5100G>A (p.Glu1700=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3048592	NM_033400.3(ZFHX2):c.2133C>T (p.Asp711=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3048463	NM_033400.3(ZFHX2):c.3435C>G (p.Thr1145=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3048426	NM_033400.3(ZFHX2):c.3616C>T (p.Leu1206=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3047594	NM_033400.3(ZFHX2):c.2070C>T (p.His690=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3045739	NM_033400.3(ZFHX2):c.4034T>C (p.Leu1345Pro)	THTPA, ZFHX2 (L1345P)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GLikely benign
Select item 3045163	NM_033400.3(ZFHX2):c.5679G>A (p.Glu1893=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3044789	NM_033400.3(ZFHX2):c.6758G>A (p.Gly2253Asp)	THTPA, ZFHX2 (G2253D)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GLikely benign
Select item 3043781	NM_033400.3(ZFHX2):c.6664C>T (p.Arg2222Cys)	THTPA, ZFHX2 (R2222C)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GBenign

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