148022[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 2688085	NM_182919.4(TICAM1):c.*91T>G	TICAM1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 403539	NM_182919.4(TICAM1):c.*10C>T	TICAM1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2754970	NM_182919.4(TICAM1):c.2118C>T (p.Asp706=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1947942	NM_182919.4(TICAM1):c.2112C>G (p.Pro704=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 580558	NM_182919.4(TICAM1):c.2107G>A (p.Ala703Thr)	TICAM1 (A703T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1138092	NM_182919.4(TICAM1):c.2103C>G (p.Ser701=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2040165	NM_182919.4(TICAM1):c.2100G>A (p.Gly700=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 750810	NM_182919.4(TICAM1):c.2091C>T (p.Asn697=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GLikely benign
Select item 1916099	NM_182919.4(TICAM1):c.2085G>T (p.Met695Ile)	TICAM1 (M695I +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1561510	NM_182919.4(TICAM1):c.2073G>T (p.Leu691=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1130795	NM_182919.4(TICAM1):c.2064G>A (p.Gln688=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1519315	NM_182919.4(TICAM1):c.2050G>A (p.Ala684Thr)	TICAM1 (A470T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GUncertain significance
Select item 2049288	NM_182919.4(TICAM1):c.2049C>T (p.His683=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GLikely benign
Select item 1534730	NM_182919.4(TICAM1):c.2046C>T (p.His682=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 760145	NM_182919.4(TICAM1):c.2034C>T (p.Pro678=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1009279	NM_182919.4(TICAM1):c.2021C>T (p.Pro674Leu)	TICAM1 (P460L +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1920343	NM_182919.4(TICAM1):c.1994C>G (p.Thr665Arg)	TICAM1 (T451R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1086594	NM_182919.4(TICAM1):c.1974G>T (p.Pro658=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1021957	NM_182919.4(TICAM1):c.1973C>T (p.Pro658Leu)	TICAM1 (P444L +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 841080	NM_182919.4(TICAM1):c.1972C>T (p.Pro658Ser)	TICAM1 (P658S)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1040969	NM_182919.4(TICAM1):c.1967C>G (p.Pro656Arg)	TICAM1 (P442R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2131625	NM_182919.4(TICAM1):c.1940A>G (p.Gln647Arg)	TICAM1 (Q633R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2008428	NM_182919.4(TICAM1):c.1929G>C (p.Pro643=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1164830	NM_182919.4(TICAM1):c.1929G>A (p.Pro643=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GBenign/Likely benign
Select item 2160358	NM_182919.4(TICAM1):c.1928C>G (p.Pro643Arg)	TICAM1 (P598R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1988521	NM_182919.4(TICAM1):c.1927C>T (p.Pro643Ser)	TICAM1 (P429S +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 864017	NM_182919.4(TICAM1):c.1925dup (p.Pro643fs)	TICAM1 (P643fs)	Duplication (frameshift variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2132866	NM_182919.4(TICAM1):c.1924C>A (p.Pro642Thr)	TICAM1 (P642T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 944357	NM_182919.4(TICAM1):c.1919C>T (p.Thr640Ile)	TICAM1 (T640I)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1717496	NM_182919.4(TICAM1):c.1903G>A (p.Ala635Thr)	TICAM1 (A421T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1609330	NM_182919.4(TICAM1):c.1902C>T (p.His634=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 937595	NM_182919.4(TICAM1):c.1902C>G (p.His634Gln)	TICAM1 (H634Q)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 842138	NM_182919.4(TICAM1):c.1889C>T (p.Pro630Leu)	TICAM1 (P630L)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1987413	NM_182919.4(TICAM1):c.1884G>A (p.Pro628=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 854424	NM_182919.4(TICAM1):c.1883C>T (p.Pro628Leu)	TICAM1 (P628L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 648127	NM_182919.4(TICAM1):c.1882C>T (p.Pro628Ser)	TICAM1 (P628S +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2959465	NM_182919.4(TICAM1):c.1875G>A (p.Pro625=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2756612	NM_182919.4(TICAM1):c.1874C>T (p.Pro625Leu)	TICAM1 (P611L +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1906461	NM_182919.4(TICAM1):c.1866C>T (p.Pro622=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2097337	NM_182919.4(TICAM1):c.1859C>G (p.Pro620Arg)	TICAM1 (P406R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2649081	NM_182919.4(TICAM1):c.1857A>G (p.Pro619=)	TICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095648	NM_182919.4(TICAM1):c.1856C>A (p.Pro619Gln)	TICAM1 (P405Q +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2649082	NM_182919.4(TICAM1):c.1854G>C (p.Pro618=)	TICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624563	NM_182919.4(TICAM1):c.1854G>A (p.Pro618=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1084675	NM_182919.4(TICAM1):c.1851C>T (p.Ala617=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 765076	NM_182919.4(TICAM1):c.1842C>G (p.Pro614=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2120972	NM_182919.4(TICAM1):c.1832G>T (p.Gly611Val)	TICAM1 (G611V +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1501494	NM_182919.4(TICAM1):c.1832G>A (p.Gly611Asp)	TICAM1 (G597D +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1524600	NM_182919.4(TICAM1):c.1827T>G (p.Phe609Leu)	TICAM1 (F595L +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2221306	NM_182919.4(TICAM1):c.1817G>A (p.Arg606Gln)	TICAM1 (R392Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 934852	NM_182919.4(TICAM1):c.1813G>A (p.Ala605Thr)	TICAM1 (A605T)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1469624	NM_182919.4(TICAM1):c.1809T>G (p.Tyr603Ter)	TICAM1 (Y558* +3 more)	Single nucleotide variant (nonsense)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 3177354	NM_182919.4(TICAM1):c.1804C>A (p.Pro602Thr)	TICAM1 (P557T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 540519	NM_182919.4(TICAM1):c.1803G>A (p.Ala601=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GBenign/Likely benign
Select item 1061096	NM_182919.4(TICAM1):c.1802C>G (p.Ala601Gly)	TICAM1 (A387G +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2082705	NM_182919.4(TICAM1):c.1800G>A (p.Gly600=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1991604	NM_182919.4(TICAM1):c.1797T>G (p.Thr599=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 739630	NM_182919.4(TICAM1):c.1792G>T (p.Gly598Trp)	TICAM1 (G598W +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1011785	NM_182919.4(TICAM1):c.1783A>T (p.Met595Leu)	TICAM1 (M381L +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 651722	NM_182919.4(TICAM1):c.1774G>A (p.Gly592Arg)	TICAM1 (G592R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GUncertain significance
Select item 540516	NM_182919.4(TICAM1):c.1763A>C (p.Gln588Pro)	TICAM1 (Q588P +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GBenign
Select item 540513	NM_182919.4(TICAM1):c.1755G>A (p.Glu585=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1001072	NM_182919.4(TICAM1):c.1751T>C (p.Met584Thr)	TICAM1 (M570T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1462204	NM_182919.4(TICAM1):c.1739A>G (p.Tyr580Cys)	TICAM1 (Y535C +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 582681	NM_182919.4(TICAM1):c.1720C>G (p.Leu574Val)	TICAM1 (L574V +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1100125	NM_182919.4(TICAM1):c.1707C>T (p.Ala569=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 473292	NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr)	TICAM1 (A568T +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1045630	NM_182919.4(TICAM1):c.1696C>A (p.Leu566Met)	TICAM1 (L552M +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1130973	NM_182919.4(TICAM1):c.1689G>A (p.Ala563=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1058464	NM_182919.4(TICAM1):c.1688C>T (p.Ala563Val)	TICAM1 (A349V +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1417238	NM_182919.4(TICAM1):c.1687G>A (p.Ala563Thr)	TICAM1 (A349T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 755529	NM_182919.4(TICAM1):c.1678C>T (p.Arg560Trp)	TICAM1 (R560W +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2045551	NM_182919.4(TICAM1):c.1674T>C (p.Gly558=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 403540	NM_182919.4(TICAM1):c.1671C>T (p.Asp557=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GBenign
Select item 2478387	NM_182919.4(TICAM1):c.1669G>C (p.Asp557His)	TICAM1 (D557H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 540510	NM_182919.4(TICAM1):c.1669G>A (p.Asp557Asn)	TICAM1 (D557N +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4 +2 more	GUncertain significance
Select item 1933109	NM_182919.4(TICAM1):c.1663C>T (p.His555Tyr)	TICAM1 (H341Y +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1083991	NM_182919.4(TICAM1):c.1650G>A (p.Arg550=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1393045	NM_182919.4(TICAM1):c.1648C>T (p.Arg550Trp)	TICAM1 (R505W +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2180359	NM_182919.4(TICAM1):c.1641A>G (p.Arg547=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1055759	NM_182919.4(TICAM1):c.1640G>A (p.Arg547Gln)	TICAM1 (R333Q +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2062604	NM_182919.4(TICAM1):c.1639C>G (p.Arg547Gly)	TICAM1 (R333G +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 660258	NM_182919.4(TICAM1):c.1632G>C (p.Gln544His)	TICAM1 (Q544H +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 851825	NM_182919.4(TICAM1):c.1628A>T (p.Glu543Val)	TICAM1 (E543V)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1918413	NM_182919.4(TICAM1):c.1616T>C (p.Met539Thr)	TICAM1 (M494T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1426695	NM_182919.4(TICAM1):c.1607G>A (p.Arg536Gln)	TICAM1 (R322Q +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1450310	NM_182919.4(TICAM1):c.1600C>A (p.Gln534Lys)	TICAM1 (Q489K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2075769	NM_182919.4(TICAM1):c.1578C>T (p.Asn526=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 933857	NM_182919.4(TICAM1):c.1564A>G (p.Arg522Gly)	TICAM1 (R522G)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 784709	NM_182919.4(TICAM1):c.1561G>A (p.Ala521Thr)	TICAM1 (A521T +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4 +2 more	GLikely benign
Select item 540507	NM_182919.4(TICAM1):c.1556T>A (p.Ile519Asn)	TICAM1 (I519N +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1544445	NM_182919.4(TICAM1):c.1548C>T (p.His516=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 1059717	NM_182919.4(TICAM1):c.1543G>A (p.Glu515Lys)	TICAM1 (E301K +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 1507012	NM_182919.4(TICAM1):c.1540G>A (p.Asp514Asn)	TICAM1 (D300N +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance

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