THTPA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2359461	NM_033400.3(ZFHX2):c.7691C>T (p.Thr2564Met)	THTPA, ZFHX2 (T2564M)	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 2534766	NM_033400.3(ZFHX2):c.7624T>A (p.Ser2542Thr)	THTPA, ZFHX2 (S2542T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1335141	NM_033400.3(ZFHX2):c.7613C>T (p.Ala2538Val)	THTPA, ZFHX2 (A2538V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2578713	NM_033400.3(ZFHX2):c.7586G>A (p.Gly2529Asp)	THTPA, ZFHX2 (G2529D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2479644	NM_033400.3(ZFHX2):c.7562G>A (p.Arg2521His)	THTPA, ZFHX2 (R2521H)	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 3334348	NM_033400.3(ZFHX2):c.7550C>T (p.Ser2517Leu)	THTPA, ZFHX2 (S2517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2207321	NM_033400.3(ZFHX2):c.7544G>A (p.Arg2515His)	THTPA, ZFHX2 (R2515H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472961	NM_033400.3(ZFHX2):c.7543C>T (p.Arg2515Cys)	THTPA, ZFHX2 (R2515C)	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 2459101	NM_033400.3(ZFHX2):c.7445G>A (p.Gly2482Asp)	THTPA, ZFHX2 (G2482D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372281	NM_033400.3(ZFHX2):c.7432C>T (p.Arg2478Trp)	THTPA, ZFHX2 (R2478W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389580	NM_033400.3(ZFHX2):c.7427T>A (p.Phe2476Tyr)	THTPA, ZFHX2 (F2476Y)	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 786797	NM_033400.3(ZFHX2):c.7394C>T (p.Pro2465Leu)	THTPA, ZFHX2 (P2465L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2246964	NM_033400.3(ZFHX2):c.7393C>T (p.Pro2465Ser)	THTPA, ZFHX2 (P2465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595497	NM_033400.3(ZFHX2):c.7361G>A (p.Arg2454His)	THTPA, ZFHX2 (R2454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475220	NM_033400.3(ZFHX2):c.7349G>A (p.Arg2450His)	THTPA, ZFHX2 (R2450H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458424	NM_033400.3(ZFHX2):c.7348C>T (p.Arg2450Cys)	THTPA, ZFHX2 (R2450C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389240	NM_033400.3(ZFHX2):c.7297G>A (p.Asp2433Asn)	THTPA, ZFHX2 (D2433N)	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 2535644	NM_033400.3(ZFHX2):c.7109A>T (p.Tyr2370Phe)	THTPA, ZFHX2 (Y2370F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644108	NM_033400.3(ZFHX2):c.7104G>A (p.Gly2368=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2255805	NM_033400.3(ZFHX2):c.7076C>A (p.Pro2359Gln)	THTPA, ZFHX2 (P2359Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382683	NM_033400.3(ZFHX2):c.7073C>T (p.Pro2358Leu)	THTPA, ZFHX2 (P2358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2228889	NM_033400.3(ZFHX2):c.7021T>A (p.Leu2341Met)	THTPA, ZFHX2 (L2341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606100	NM_033400.3(ZFHX2):c.6965C>A (p.Ser2322Tyr)	THTPA, ZFHX2 (S2322Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606099	NM_033400.3(ZFHX2):c.6964T>A (p.Ser2322Thr)	THTPA, ZFHX2 (S2322T)	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 3052932	NM_033400.3(ZFHX2):c.6930C>T (p.Ser2310=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
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 3192957	NM_033400.3(ZFHX2):c.6872C>T (p.Ala2291Val)	THTPA, ZFHX2 (A2291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473273	NM_033400.3(ZFHX2):c.6850G>A (p.Asp2284Asn)	THTPA, ZFHX2 (D2284N)	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 2340358	NM_033400.3(ZFHX2):c.6760C>T (p.Leu2254Phe)	THTPA, ZFHX2 (L2254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2358479	NM_033400.3(ZFHX2):c.6734A>G (p.Asn2245Ser)	THTPA, ZFHX2 (N2245S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3025524	NM_033400.3(ZFHX2):c.6711G>A (p.Pro2237=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	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
Select item 3027155	NM_033400.3(ZFHX2):c.6613C>A (p.Pro2205Thr)	THTPA, ZFHX2 (P2205T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481837	NM_033400.3(ZFHX2):c.6568G>A (p.Asp2190Asn)	THTPA, ZFHX2 (D2190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211245	NM_033400.3(ZFHX2):c.6530C>T (p.Ala2177Val)	THTPA, ZFHX2 (A2177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2407439	NM_033400.3(ZFHX2):c.6473A>G (p.Tyr2158Cys)	THTPA, ZFHX2 (Y2158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370966	NM_033400.3(ZFHX2):c.6471C>A (p.Phe2157Leu)	THTPA, ZFHX2 (F2157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684252	NM_033400.3(ZFHX2):c.6409A>C (p.Ser2137Arg)	THTPA, ZFHX2 (S2137R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3026138	NM_033400.3(ZFHX2):c.6400G>A (p.Gly2134Arg)	ZFHX2, THTPA (G2134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777434	NM_033400.3(ZFHX2):c.6398C>A (p.Thr2133Asn)	THTPA, ZFHX2 (T2133N)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3050577	NM_033400.3(ZFHX2):c.6381G>C (p.Gly2127=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 2612331	NM_033400.3(ZFHX2):c.6331G>A (p.Val2111Ile)	THTPA, ZFHX2 (V2111I)	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 3040492	NM_033400.3(ZFHX2):c.6306T>C (p.Ile2102=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3042835	NM_033400.3(ZFHX2):c.6210C>A (p.Thr2070=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GBenign
Select item 2520667	NM_033400.3(ZFHX2):c.6199C>T (p.Arg2067Cys)	THTPA, ZFHX2 (R2067C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462406	NM_033400.3(ZFHX2):c.6197G>A (p.Arg2066Gln)	THTPA, ZFHX2 (R2066Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618828	NM_033400.3(ZFHX2):c.6043A>C (p.Lys2015Gln)	THTPA, ZFHX2 (K2015Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672250	NM_033400.3(ZFHX2):c.6034G>A (p.Glu2012Lys)	THTPA, ZFHX2 (E2012K)	Single nucleotide variant (missense variant)	Indifference to pain, congenital, autosomal dominant	GUncertain significance
Select item 2644109	NM_033400.3(ZFHX2):c.6003C>T (p.Pro2001=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2260389	NM_033400.3(ZFHX2):c.5950G>A (p.Gly1984Arg)	THTPA, ZFHX2 (G1984R)	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 2542127	NM_033400.3(ZFHX2):c.5930C>A (p.Pro1977His)	THTPA, ZFHX2 (P1977H)	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 3033756	NM_033400.3(ZFHX2):c.5859C>G (p.Gly1953=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GBenign
Select item 2532525	NM_033400.3(ZFHX2):c.5833C>T (p.Leu1945Phe)	THTPA, ZFHX2 (L1945F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644110	NM_033400.3(ZFHX2):c.5792C>G (p.Pro1931Arg)	THTPA, ZFHX2 (P1931R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382220	NM_033400.3(ZFHX2):c.5764G>T (p.Gly1922Trp)	THTPA, ZFHX2 (G1922W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 487556	NM_033400.3(ZFHX2):c.5738G>A (p.Arg1913Lys)	THTPA, ZFHX2 (R1913K)	Single nucleotide variant (missense variant)	Indifference to pain, congenital, autosomal dominant	GPathogenic
Select item 2261358	NM_033400.3(ZFHX2):c.5734G>A (p.Glu1912Lys)	THTPA, ZFHX2 (E1912K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305486	NM_033400.3(ZFHX2):c.5731C>T (p.Arg1911Trp)	THTPA, ZFHX2 (R1911W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593044	NM_033400.3(ZFHX2):c.5696G>A (p.Arg1899Gln)	THTPA, ZFHX2 (R1899Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3045163	NM_033400.3(ZFHX2):c.5679G>A (p.Glu1893=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
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 2605634	NM_033400.3(ZFHX2):c.5639C>T (p.Ser1880Phe)	THTPA, ZFHX2 (S1880F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465840	NM_033400.3(ZFHX2):c.5621G>A (p.Arg1874His)	THTPA, ZFHX2 (R1874H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620683	NM_033400.3(ZFHX2):c.5620C>T (p.Arg1874Cys)	THTPA, ZFHX2 (R1874C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3334357	NM_033400.3(ZFHX2):c.5582G>A (p.Arg1861His)	THTPA, ZFHX2 (R1861H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2358107	NM_033400.3(ZFHX2):c.5563C>T (p.Pro1855Ser)	THTPA, ZFHX2 (P1855S)	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 2391358	NM_033400.3(ZFHX2):c.5509G>A (p.Gly1837Ser)	THTPA, ZFHX2 (G1837S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223778	NM_033400.3(ZFHX2):c.5494C>T (p.Arg1832Trp)	THTPA, ZFHX2 (R1832W)	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

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