STAT4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 2036893	NM_003151.4(STAT4):c.2238T>C (p.Ser746=)	STAT4, STAT4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898480	NM_003151.4(STAT4):c.2220+10C>T	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1377331	NM_003151.4(STAT4):c.2219C>T (p.Ala740Val)	STAT4, STAT4-AS1 (A740V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2047262	NM_003151.4(STAT4):c.2217T>C (p.Thr739=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1528021	NM_003151.4(STAT4):c.2217T>G (p.Thr739=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1490597	NM_003151.4(STAT4):c.2213A>C (p.Glu738Ala)	STAT4, STAT4-AS1 (E738A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2091853	NM_003151.4(STAT4):c.2204CAA[1] (p.Thr736del)	STAT4, STAT4-AS1 (T736del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1542178	NM_003151.4(STAT4):c.2208A>T (p.Thr736=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2800995	NM_003151.4(STAT4):c.2207C>A (p.Thr736Lys)	STAT4, STAT4-AS1 (T736K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1351970	NM_003151.4(STAT4):c.2203A>G (p.Thr735Ala)	STAT4, STAT4-AS1 (T735A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1545148	NM_003151.4(STAT4):c.2178G>A (p.Ala726=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2730791	NM_003151.4(STAT4):c.2174A>G (p.Tyr725Cys)	STAT4, STAT4-AS1 (Y725C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2831058	NM_003151.4(STAT4):c.2172G>T (p.Val724=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2905462	NM_003151.4(STAT4):c.2151T>G (p.Leu717=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2091017	NM_003151.4(STAT4):c.2127A>G (p.Thr709=)	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2180503	NM_003151.4(STAT4):c.2114G>A (p.Arg705Gln)	STAT4, STAT4-AS1 (R705Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2101791	NM_003151.4(STAT4):c.2112-14G>A	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2995883	NM_003151.4(STAT4):c.2112-16T>G	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2873335	NM_003151.4(STAT4):c.2112-17C>G	STAT4, STAT4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1545859	NM_003151.4(STAT4):c.2111+18C>T	STAT4, STAT4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630816	NM_003151.4(STAT4):c.2111+10G>A	STAT4, STAT4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960810	NM_003151.4(STAT4):c.2110A>G (p.Ile704Val)	STAT4, STAT4-AS1 (I704V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1905541	NM_003151.4(STAT4):c.2068G>C (p.Asp690His)	STAT4, STAT4-AS1 (D690H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941174	NM_003151.4(STAT4):c.2064G>C (p.Arg688Ser)	STAT4, STAT4-AS1 (R688S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496582	NM_003151.4(STAT4):c.2062A>G (p.Arg688Gly)	STAT4, STAT4-AS1 (R688G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555191	NM_003151.4(STAT4):c.2045-15C>A	STAT4, STAT4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988312	NM_003151.4(STAT4):c.2044+18_2044+21del	STAT4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1924381	NM_003151.4(STAT4):c.2044+16T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584579	NM_003151.4(STAT4):c.2040C>T (p.Cys680=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018599	NM_003151.4(STAT4):c.2014G>A (p.Gly672Ser)	STAT4 (G672S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1546329	NM_003151.4(STAT4):c.2013C>T (p.Phe671=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178586	NM_003151.4(STAT4):c.1995T>C (p.Ile665=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055121	NM_003151.4(STAT4):c.1983A>G (p.Leu661=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 758297	NM_003151.4(STAT4):c.1962T>C (p.Pro654=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1410991	NM_003151.4(STAT4):c.1959T>G (p.Ile653Met)	STAT4 (I653M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038442	NM_003151.4(STAT4):c.1952A>T (p.Glu651Val)	STAT4 (E651V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572047	NM_003151.4(STAT4):c.1949C>A (p.Ala650Asp)	STAT4 (A650D)	Single nucleotide variant (missense variant)	Disabling pansclerotic morphea of childhood	GPathogenic
Select item 2965000	NM_003151.4(STAT4):c.1937A>G (p.Lys646Arg)	STAT4 (K646R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802978	NM_003151.4(STAT4):c.1930G>A (p.Asp644Asn)	STAT4 (D644N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911762	NM_003151.4(STAT4):c.1927C>A (p.Arg643=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574650	NM_003151.4(STAT4):c.1917T>C (p.Ala639=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071343	NM_003151.4(STAT4):c.1914C>A (p.Phe638Leu)	STAT4 (F638L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761014	NM_003151.4(STAT4):c.1914C>T (p.Phe638=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572046	NM_003151.4(STAT4):c.1904C>T (p.Ala635Val)	STAT4 (A635V)	Single nucleotide variant (missense variant)	Disabling pansclerotic morphea of childhood	GPathogenic
Select item 1623432	NM_003151.4(STAT4):c.1896G>T (p.Arg632=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1521301	NM_003151.4(STAT4):c.1895G>A (p.Arg632Gln)	STAT4 (R632Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766455	NM_003151.4(STAT4):c.1886A>G (p.Asn629Ser)	STAT4 (N629S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831545	NM_003151.4(STAT4):c.1876G>C (p.Glu626Gln)	STAT4 (E626Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171115	NM_003151.4(STAT4):c.1873G>A (p.Val625Ile)	STAT4 (V625I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2032986	NM_003151.4(STAT4):c.1871del (p.Ser624fs)	STAT4 (S624fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2572048	NM_003151.4(STAT4):c.1867C>T (p.His623Tyr)	STAT4 (H623Y)	Single nucleotide variant (missense variant)	Disabling pansclerotic morphea of childhood	GPathogenic
Select item 2692881	NM_003151.4(STAT4):c.1857A>G (p.Glu619=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631125	NM_003151.4(STAT4):c.1853G>A (p.Gly618Glu)	STAT4 (G618E)	Single nucleotide variant (missense variant)	STAT4-related disorder	GUncertain significance
Select item 2978311	NM_003151.4(STAT4):c.1853-5del	STAT4	Deletion (intron variant)	not provided	GBenign
Select item 1929032	NM_003151.4(STAT4):c.1853-7T>G	STAT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2017074	NM_003151.4(STAT4):c.1853-15T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967810	NM_003151.4(STAT4):c.1852+16T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925190	NM_003151.4(STAT4):c.1852+13T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630360	NM_003151.4(STAT4):c.1852+10C>G	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004553	NM_003151.4(STAT4):c.1852+9T>G	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895023	NM_003151.4(STAT4):c.1852+6T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1502958	NM_003151.4(STAT4):c.1852+5A>G	STAT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2170232	NM_003151.4(STAT4):c.1812C>T (p.Leu604=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714409	NM_003151.4(STAT4):c.1808A>G (p.His603Arg)	STAT4 (H603R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893119	NM_003151.4(STAT4):c.1790T>C (p.Leu597Ser)	STAT4 (L597S)	Single nucleotide variant (missense variant)	Disabling pansclerotic morphea of childhood +1 more	GUncertain significance
Select item 1910542	NM_003151.4(STAT4):c.1774C>G (p.Pro592Ala)	STAT4 (P592A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750173	NM_003151.4(STAT4):c.1761A>G (p.Leu587=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827414	NM_003151.4(STAT4):c.1758_1759delinsTT (p.Leu586Phe)	STAT4 (L586F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1989013	NM_003151.4(STAT4):c.1750C>T (p.Arg584Trp)	STAT4 (R584W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634817	NM_003151.4(STAT4):c.1750C>A (p.Arg584=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862266	NM_003151.4(STAT4):c.1722C>G (p.Val574=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054359	NM_003151.4(STAT4):c.1716-8A>G	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783988	NM_003151.4(STAT4):c.1716-9T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576867	NM_003151.4(STAT4):c.1716-14T>A	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1627194	NM_003151.4(STAT4):c.1715+18T>A	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1118315	NM_003151.4(STAT4):c.1715+15A>G	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577137	NM_003151.4(STAT4):c.1715+11G>A	STAT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830655	NM_003151.4(STAT4):c.1715+5G>A	STAT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1588485	NM_003151.4(STAT4):c.1701C>T (p.Pro567=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122204	NM_003151.4(STAT4):c.1700C>T (p.Pro567Leu)	STAT4 (P567L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404654	NM_003151.4(STAT4):c.1696C>A (p.Leu566Ile)	STAT4 (L566I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814312	NM_003151.4(STAT4):c.1680A>G (p.Leu560=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693201	NM_003151.4(STAT4):c.1643_1651del (p.Phe548_Phe550del)	STAT4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1481200	NM_003151.4(STAT4):c.1648T>C (p.Phe550Leu)	STAT4 (F550L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280687	NM_003151.4(STAT4):c.1646C>A (p.Thr549Asn)	STAT4 (T549N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239489	NM_003151.4(STAT4):c.1641A>G (p.Ser547=)	STAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983804	NM_003151.4(STAT4):c.1639T>C (p.Ser547Pro)	STAT4 (S547P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928450	NM_003151.4(STAT4):c.1624C>T (p.His542Tyr)	STAT4 (H542Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510062	NM_003151.4(STAT4):c.1621-3T>C	STAT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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