ClinVar for Gene (Select 148022) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353551	NM_182919.4(TICAM1):c.1510G>A (p.Ala504Thr)	TICAM1 (A290T +3 more)	Single nucleotide variant (missense variant)	TICAM1-related disorder	GUncertain significance
Select item 3326078	NM_182919.4(TICAM1):c.1277C>A (p.Thr426Asn)	TICAM1 (T212N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326077	NM_182919.4(TICAM1):c.248C>T (p.Thr83Ile)	TICAM1 (T38I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326076	NM_182919.4(TICAM1):c.1784T>A (p.Met595Lys)	TICAM1 (M550K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3177357	NM_182919.4(TICAM1):c.211C>T (p.Arg71Trp)	TICAM1 (R57W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3177355	NM_182919.4(TICAM1):c.199G>A (p.Asp67Asn)	TICAM1 (D22N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3177353	NM_182919.4(TICAM1):c.1220A>T (p.His407Leu)	TICAM1 (H193L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3032253	NM_182919.4(TICAM1):c.729C>T (p.Val243=)	TICAM1	Single nucleotide variant (synonymous variant)	TICAM1-related disorder	GLikely benign
Select item 3026602	NM_182919.4(TICAM1):c.1333G>A (p.Ala445Thr)	TICAM1 (A231T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024663	NM_182919.4(TICAM1):c.11C>T (p.Thr4Ile)	TICAM1 (T4I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3021928	NM_182919.4(TICAM1):c.768G>A (p.Pro256=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 3015072	NM_182919.4(TICAM1):c.498A>C (p.Pro166=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 3011361	NM_182919.4(TICAM1):c.1050A>C (p.Pro350=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2992510	NM_182919.4(TICAM1):c.1005A>G (p.Gln335=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2992236	NM_182919.4(TICAM1):c.1309G>A (p.Gly437Arg)	TICAM1 (G223R +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2985189	NM_182919.4(TICAM1):c.267C>T (p.Pro89=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2982362	NM_182919.4(TICAM1):c.1131C>T (p.Thr377=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2974351	NM_182919.4(TICAM1):c.1137C>T (p.Ser379=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
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 2918967	NM_182919.4(TICAM1):c.410A>G (p.Gln137Arg)	TICAM1 (Q123R +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2912884	NM_182919.4(TICAM1):c.471G>A (p.Thr157=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2904065	NM_182919.4(TICAM1):c.606C>G (p.Ser202=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2903625	NM_182919.4(TICAM1):c.1428C>T (p.Asn476=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2885733	NM_182919.4(TICAM1):c.963G>A (p.Pro321=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2869830	NM_182919.4(TICAM1):c.51A>G (p.Ala17=)	TICAM1	Single nucleotide variant (synonymous variant +2 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2868624	NM_182919.4(TICAM1):c.720C>G (p.Pro240=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2865454	NM_182919.4(TICAM1):c.1317G>A (p.Leu439=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2857031	NM_182919.4(TICAM1):c.340C>A (p.Arg114=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2849161	NM_182919.4(TICAM1):c.304C>A (p.Leu102Met)	TICAM1 (L88M +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2841369	NM_182919.4(TICAM1):c.1044G>T (p.Pro348=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2835832	NM_182919.4(TICAM1):c.987A>G (p.Lys329=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2817738	NM_182919.4(TICAM1):c.720C>A (p.Pro240=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2790184	NM_182919.4(TICAM1):c.1234G>A (p.Val412Ile)	TICAM1 (V198I +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2766567	NM_182919.4(TICAM1):c.1269C>T (p.Asp423=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2764653	NM_182919.4(TICAM1):c.1026C>A (p.Thr342=)	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 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 2739999	NM_182919.4(TICAM1):c.774G>A (p.Ser258=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2711610	NM_182919.4(TICAM1):c.12A>C (p.Thr4=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2707921	NM_182919.4(TICAM1):c.336G>T (p.Ser112=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2705752	NM_182919.4(TICAM1):c.1416C>A (p.Ala472=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2688085	NM_182919.4(TICAM1):c.*91T>G	TICAM1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2649082	NM_182919.4(TICAM1):c.1854G>C (p.Pro618=)	TICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649081	NM_182919.4(TICAM1):c.1857A>G (p.Pro619=)	TICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530449	NM_182919.4(TICAM1):c.1504G>A (p.Asp502Asn)	TICAM1 (D288N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2462512	NM_182919.4(TICAM1):c.40A>C (p.Ile14Leu)	TICAM1 (I14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2428772	NM_182919.4(TICAM1):c.811C>T (p.Pro271Ser)	TICAM1 (P226S +3 more)	Single nucleotide variant (missense variant)	Susceptibility to severe COVID-19	GLikely risk allele
Select item 2427608	NC_000019.9:g.(?_4816251)_(4818389_?)dup	TICAM1	Duplication	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2414721	NM_182919.4(TICAM1):c.865G>A (p.Asp289Asn)	TICAM1 (D244N +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2381916	NM_182919.4(TICAM1):c.803C>A (p.Pro268Gln)	TICAM1 (P54Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284025	NM_182919.4(TICAM1):c.378C>G (p.Ser126Arg)	TICAM1 (S112R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270924	NM_182919.4(TICAM1):c.874G>A (p.Ala292Thr)	TICAM1 (A247T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267083	NM_182919.4(TICAM1):c.598C>T (p.Pro200Ser)	TICAM1 (P186S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 2202016	NM_182919.4(TICAM1):c.1488G>A (p.Pro496=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2199602	NM_182919.4(TICAM1):c.1509G>A (p.Thr503=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2199601	NM_182919.4(TICAM1):c.427C>T (p.Arg143Trp)	TICAM1 (R143W +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2198381	NM_182919.4(TICAM1):c.428G>A (p.Arg143Gln)	TICAM1 (R143Q +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4 +1 more	GUncertain significance
Select item 2194183	NM_182919.4(TICAM1):c.942C>T (p.Leu314=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2190754	NM_182919.4(TICAM1):c.1488G>C (p.Pro496=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2187150	NM_182919.4(TICAM1):c.324G>A (p.Leu108=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2186022	NM_182919.4(TICAM1):c.336G>A (p.Ser112=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
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 2166768	NM_182919.4(TICAM1):c.69C>G (p.Leu23=)	TICAM1	Single nucleotide variant (synonymous variant +2 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2166292	NM_182919.4(TICAM1):c.873C>T (p.Pro291=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely 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 2156379	NM_182919.4(TICAM1):c.926C>T (p.Ala309Val)	TICAM1 (A264V +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2151977	NM_182919.4(TICAM1):c.265C>A (p.Pro89Thr)	TICAM1 (P75T +2 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 2115717	NM_182919.4(TICAM1):c.1376A>G (p.Asn459Ser)	TICAM1 (N459S +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2113494	NM_182919.4(TICAM1):c.723G>C (p.Glu241Asp)	TICAM1 (E196D +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2107855	NM_182919.4(TICAM1):c.1151C>T (p.Ser384Phe)	TICAM1 (S339F +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2105226	NM_182919.4(TICAM1):c.1246C>A (p.Leu416Met)	TICAM1 (L202M +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
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 2083641	NM_182919.4(TICAM1):c.339G>A (p.Leu113=)	TICAM1	Single nucleotide variant (synonymous variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
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 2082683	NM_182919.4(TICAM1):c.896A>G (p.Asn299Ser)	TICAM1 (N254S +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	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 2072696	NM_182919.4(TICAM1):c.1354A>G (p.Ile452Val)	TICAM1 (I238V +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2068181	NM_182919.4(TICAM1):c.643_652del (p.Met215fs)	TICAM1 (M215fs +3 more)	Deletion (frameshift variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2066404	NM_182919.4(TICAM1):c.773C>G (p.Ser258Trp)	TICAM1 (S244W +3 more)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance
Select item 2064862	NM_182919.4(TICAM1):c.1285G>T (p.Glu429Ter)	TICAM1 (E215* +3 more)	Single nucleotide variant (nonsense)	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 2049288	NM_182919.4(TICAM1):c.2049C>T (p.His683=)	TICAM1	Single nucleotide variant (synonymous 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 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 2033520	NM_182919.4(TICAM1):c.1320C>T (p.Ser440=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2024056	NM_182919.4(TICAM1):c.945C>T (p.Pro315=)	TICAM1	Single nucleotide variant (synonymous variant)	Herpes simplex encephalitis, susceptibility to, 4	GLikely benign
Select item 2014670	NM_182919.4(TICAM1):c.575G>A (p.Cys192Tyr)	TICAM1 (C178Y +2 more)	Single nucleotide variant (missense variant +1 more)	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 2008251	NM_182919.4(TICAM1):c.281G>T (p.Trp94Leu)	TICAM1 (W49L +2 more)	Single nucleotide variant (missense variant +1 more)	Herpes simplex encephalitis, susceptibility to, 4	GUncertain significance

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