"PreventionGenetics, part of Exact Sciences"[submitter] AND "THTPA"[ge - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578713	NM_033400.3(ZFHX2):c.7586G>A (p.Gly2529Asp)	THTPA, ZFHX2 (G2529D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 786797	NM_033400.3(ZFHX2):c.7394C>T (p.Pro2465Leu)	THTPA, ZFHX2 (P2465L)	Single nucleotide variant (missense variant)	ZFHX2-related disorder +1 more	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 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
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 1684252	NM_033400.3(ZFHX2):c.6409A>C (p.Ser2137Arg)	THTPA, ZFHX2 (S2137R)	Single nucleotide variant (missense variant)	Indifference to pain, congenital, autosomal dominant +1 more	GBenign
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 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)	ZFHX2-related disorder +1 more	GConflicting classifications of pathogenicity
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 3045163	NM_033400.3(ZFHX2):c.5679G>A (p.Glu1893=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 2465840	NM_033400.3(ZFHX2):c.5621G>A (p.Arg1874His)	THTPA, ZFHX2 (R1874H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 3052676	NM_033400.3(ZFHX2):c.5565C>G (p.Pro1855=)	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 2644111	NM_033400.3(ZFHX2):c.5406C>G (p.Pro1802=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder +1 more	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 738662	NM_033400.3(ZFHX2):c.4953C>A (p.Arg1651=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1684253	NM_033400.3(ZFHX2):c.4634T>C (p.Val1545Ala)	THTPA, ZFHX2 (V1545A)	Single nucleotide variant (missense variant)	Indifference to pain, congenital, autosomal dominant +1 more	GBenign
Select item 3039130	NM_033400.3(ZFHX2):c.4584G>A (p.Pro1528=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GBenign
Select item 3038770	NM_033400.3(ZFHX2):c.4194C>T (p.Pro1398=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GBenign
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 717011	NM_033400.3(ZFHX2):c.4018T>G (p.Phe1340Val)	THTPA, ZFHX2 (F1340V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 3048463	NM_033400.3(ZFHX2):c.3435C>G (p.Thr1145=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
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 2356039	NM_033400.3(ZFHX2):c.2792G>A (p.Arg931Gln)	THTPA, ZFHX2 (R931Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3038385	NM_033400.3(ZFHX2):c.2705G>A (p.Arg902His)	THTPA, ZFHX2 (R902H)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GBenign
Select item 3035847	NM_033400.3(ZFHX2):c.2373C>T (p.His791=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 778736	NM_033400.3(ZFHX2):c.2134G>A (p.Asp712Asn)	ZFHX2, THTPA (D712N)	Single nucleotide variant (missense variant)	ZFHX2-related disorder +1 more	GBenign
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 3047594	NM_033400.3(ZFHX2):c.2070C>T (p.His690=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 2212306	NM_033400.3(ZFHX2):c.1949C>T (p.Pro650Leu)	THTPA, ZFHX2 (P650L)	Single nucleotide variant (missense variant)	ZFHX2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2644120	NM_033400.3(ZFHX2):c.1841G>A (p.Gly614Glu)	THTPA, ZFHX2 (G614E)	Single nucleotide variant (missense variant)	ZFHX2-related disorder +1 more	GLikely benign
Select item 3060269	NM_033400.3(ZFHX2):c.1648C>A (p.Pro550Thr)	THTPA, ZFHX2 (P550T)	Single nucleotide variant (synonymous variant +1 more)	ZFHX2-related disorder	GBenign
Select item 3035076	NM_033400.3(ZFHX2):c.1089G>A (p.Ser363=)	THTPA, ZFHX2	Single nucleotide variant (synonymous variant)	ZFHX2-related disorder	GLikely benign
Select item 3038435	NM_033400.3(ZFHX2):c.910A>T (p.Ile304Leu)	THTPA, ZFHX2 (I304L)	Single nucleotide variant (missense variant)	ZFHX2-related disorder	GBenign
Select item 2372767	NM_033400.3(ZFHX2):c.496C>G (p.Leu166Val)	THTPA, ZFHX2 (L166V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2342568	NM_033400.3(ZFHX2):c.436G>A (p.Glu146Lys)	THTPA, ZFHX2 (E146K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3024850	NM_033400.3(ZFHX2):c.385T>C (p.Ser129Pro)	THTPA, ZFHX2 (S129P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2636377	NM_033400.3(ZFHX2):c.312del (p.Leu105fs)	ZFHX2, THTPA (L105fs)	Deletion (frameshift variant)	ZFHX2-related disorder	GUncertain significance
Select item 776821	NM_033400.3(ZFHX2):c.295G>C (p.Glu99Gln)	THTPA, ZFHX2 (E99Q)	Single nucleotide variant (missense variant)	ZFHX2-related disorder +1 more	GBenign

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Items: 44