ClinVar for Gene (Select 284900) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355621	NM_001145418.2(TTC28):c.4342G>A (p.Glu1448Lys)	TTC28, TTC28-AS1 (E1330K +1 more)	Single nucleotide variant (missense variant +1 more)	TTC28-related disorder	GUncertain significance
Select item 3329850	NM_001145418.2(TTC28):c.4291C>G (p.Leu1431Val)	TTC28, TTC28-AS1 (L1431V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329849	NM_001145418.2(TTC28):c.4646T>A (p.Ile1549Asn)	TTC28, TTC28-AS1 (I1431N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329848	NM_001145418.2(TTC28):c.7123A>G (p.Met2375Val)	TTC28, TTC28-AS1 (M2249V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329846	NM_001145418.2(TTC28):c.7135C>G (p.Arg2379Gly)	TTC28, TTC28-AS1 (R2253G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329844	NM_001145418.2(TTC28):c.4324T>G (p.Ser1442Ala)	TTC28, TTC28-AS1 (S1442A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329843	NM_001145418.2(TTC28):c.6940T>C (p.Ser2314Pro)	TTC28, TTC28-AS1 (S2188P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329842	NM_001145418.2(TTC28):c.5158C>A (p.Pro1720Thr)	TTC28, TTC28-AS1 (P1720T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329838	NM_001145418.2(TTC28):c.6938A>C (p.Gln2313Pro)	TTC28, TTC28-AS1 (Q2187P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329831	NM_001145418.2(TTC28):c.4295T>C (p.Ile1432Thr)	TTC28, TTC28-AS1 (I1432T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329828	NM_001145418.2(TTC28):c.4375C>T (p.Arg1459Cys)	TTC28, TTC28-AS1 (R1341C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184252	NM_001145418.2(TTC28):c.7135C>T (p.Arg2379Trp)	TTC28, TTC28-AS1 (R2379W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184251	NM_001145418.2(TTC28):c.6667A>G (p.Lys2223Glu)	TTC28, TTC28-AS1 (K2105E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184250	NM_001145418.2(TTC28):c.6559G>T (p.Val2187Leu)	TTC28, TTC28-AS1 (V2187L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184248	NM_001145418.2(TTC28):c.6058C>T (p.Arg2020Trp)	TTC28, TTC28-AS1 (R1894W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184247	NM_001145418.2(TTC28):c.5773C>T (p.Arg1925Trp)	TTC28, TTC28-AS1 (R1807W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184246	NM_001145418.2(TTC28):c.5240A>G (p.His1747Arg)	TTC28, TTC28-AS1 (H1629R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184245	NM_001145418.2(TTC28):c.5105C>T (p.Pro1702Leu)	TTC28, TTC28-AS1 (P1584L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184244	NM_001145418.2(TTC28):c.4445T>C (p.Met1482Thr)	TTC28, TTC28-AS1 (M1364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184243	NM_001145418.2(TTC28):c.4429T>G (p.Ser1477Ala)	TTC28, TTC28-AS1 (S1359A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184242	NM_001145418.2(TTC28):c.4409G>A (p.Arg1470Gln)	TTC28, TTC28-AS1 (R1470Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184241	NM_001145418.2(TTC28):c.4250G>A (p.Arg1417Gln)	TTC28, TTC28-AS1 (R1299Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056496	NM_001145418.2(TTC28):c.7271C>G (p.Ala2424Gly)	TTC28, TTC28-AS1 (A2298G +3 more)	Single nucleotide variant (missense variant)	TTC28-related disorder	GBenign
Select item 3050362	NM_001145418.2(TTC28):c.5552G>A (p.Arg1851Gln)	TTC28, TTC28-AS1 (R1733Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048180	NM_001145418.2(TTC28):c.4719C>T (p.Phe1573=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3046441	NM_001145418.2(TTC28):c.5205G>A (p.Pro1735=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3041446	NM_001145418.2(TTC28):c.7197A>G (p.Pro2399=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3041167	NM_001145418.2(TTC28):c.5437C>T (p.Arg1813Trp)	TTC28, TTC28-AS1 (R1695W +1 more)	Single nucleotide variant (missense variant)	TTC28-related disorder	GLikely benign
Select item 3040953	NM_001145418.2(TTC28):c.5688C>T (p.His1896=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3040223	NM_001145418.2(TTC28):c.6816C>T (p.Pro2272=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 3037151	NM_001145418.2(TTC28):c.6393A>T (p.Ser2131=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GBenign
Select item 3031654	NM_001145418.2(TTC28):c.4319G>C (p.Ser1440Thr)	TTC28, TTC28-AS1 (S1322T +1 more)	Single nucleotide variant (missense variant +1 more)	TTC28-related disorder	GUncertain significance
Select item 3030448	NM_001145418.2(TTC28):c.4242C>T (p.Pro1414=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	TTC28-related disorder	GLikely benign
Select item 3029195	NM_001145418.2(TTC28):c.6174G>C (p.Gly2058=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related disorder	GLikely benign
Select item 2621398	NM_001145418.2(TTC28):c.6260C>A (p.Pro2087His)	TTC28, TTC28-AS1 (P1961H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615479	NM_001145418.2(TTC28):c.5318A>G (p.Asn1773Ser)	TTC28, TTC28-AS1 (N1773S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601640	NM_001145418.2(TTC28):c.6527C>A (p.Ala2176Glu)	TTC28, TTC28-AS1 (A2050E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599147	NM_001145418.2(TTC28):c.5228G>A (p.Arg1743Gln)	TTC28, TTC28-AS1 (R1625Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592381	NM_001145418.2(TTC28):c.6589G>A (p.Val2197Ile)	TTC28, TTC28-AS1 (V2189I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2588991	NM_001145418.2(TTC28):c.4237G>A (p.Gly1413Ser)	TTC28, TTC28-AS1 (G1295S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569075	NM_001145418.2(TTC28):c.5771G>A (p.Arg1924Gln)	TTC28, TTC28-AS1 (R1806Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560759	NM_001145418.2(TTC28):c.5531C>G (p.Thr1844Arg)	TTC28, TTC28-AS1 (T1844R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548942	NM_001145418.2(TTC28):c.5952C>A (p.Ser1984Arg)	TTC28, TTC28-AS1 (S1858R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546729	NM_001145418.2(TTC28):c.5188G>C (p.Glu1730Gln)	TTC28, TTC28-AS1 (E1612Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535183	NM_001145418.2(TTC28):c.4279G>T (p.Gly1427Trp)	TTC28, TTC28-AS1 (G1427W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533074	NM_001145418.2(TTC28):c.5744T>G (p.Ile1915Ser)	TTC28, TTC28-AS1 (I1789S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531443	NM_001145418.2(TTC28):c.4751G>A (p.Arg1584Gln)	TTC28, TTC28-AS1 (R1466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510383	NM_001145418.2(TTC28):c.5329G>A (p.Gly1777Ser)	TTC28, TTC28-AS1 (G1659S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495056	NM_001145418.2(TTC28):c.4582G>A (p.Ala1528Thr)	TTC28, TTC28-AS1 (A1528T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458645	NM_001145418.2(TTC28):c.4546G>A (p.Glu1516Lys)	TTC28, TTC28-AS1 (E1516K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458014	NM_001145418.2(TTC28):c.4948G>A (p.Ala1650Thr)	TTC28, TTC28-AS1 (A1532T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411164	NM_001145418.2(TTC28):c.4458C>G (p.Ile1486Met)	TTC28, TTC28-AS1 (I1486M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406935	NM_001145418.2(TTC28):c.5210G>A (p.Arg1737His)	TTC28, TTC28-AS1 (R1619H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395453	NM_001145418.2(TTC28):c.7319C>T (p.Ser2440Leu)	TTC28, TTC28-AS1 (S2314L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393992	NM_001145418.2(TTC28):c.6596C>T (p.Ala2199Val)	TTC28, TTC28-AS1 (A2073V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381949	NM_001145418.2(TTC28):c.7366G>A (p.Ala2456Thr)	TTC28, TTC28-AS1 (A2338T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374914	NM_001145418.2(TTC28):c.6439G>A (p.Val2147Met)	TTC28, TTC28-AS1 (V2139M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362213	NM_001145418.2(TTC28):c.5429C>T (p.Pro1810Leu)	TTC28, TTC28-AS1 (P1810L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357111	NM_001145418.2(TTC28):c.5386A>G (p.Thr1796Ala)	TTC28, TTC28-AS1 (T1796A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356960	NM_001145418.2(TTC28):c.5282G>A (p.Arg1761His)	TTC28, TTC28-AS1 (R1761H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334415	NM_001145418.2(TTC28):c.4256G>A (p.Arg1419Gln)	TTC28, TTC28-AS1 (R1301Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330389	NM_001145418.2(TTC28):c.7343C>T (p.Ala2448Val)	TTC28, TTC28-AS1 (A2330V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328830	NM_001145418.2(TTC28):c.6994G>A (p.Ala2332Thr)	TTC28, TTC28-AS1 (A2206T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315237	NM_001145418.2(TTC28):c.6998G>C (p.Arg2333Pro)	TTC28, TTC28-AS1 (R2215P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313784	NM_001145418.2(TTC28):c.5726T>C (p.Val1909Ala)	TTC28, TTC28-AS1 (V1791A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312488	NM_001145418.2(TTC28):c.5425G>A (p.Asp1809Asn)	TTC28, TTC28-AS1 (D1691N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305415	NM_001145418.2(TTC28):c.6703C>A (p.Pro2235Thr)	TTC28, TTC28-AS1 (P2109T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287252	NM_001145418.2(TTC28):c.6410A>G (p.Asp2137Gly)	TTC28, TTC28-AS1 (D2011G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281705	NM_001145418.2(TTC28):c.5035G>A (p.Gly1679Ser)	TTC28, TTC28-AS1 (G1679S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263629	NM_001145418.2(TTC28):c.4448C>T (p.Ala1483Val)	TTC28, TTC28-AS1 (A1483V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262655	NM_001145418.2(TTC28):c.6586G>A (p.Gly2196Ser)	TTC28, TTC28-AS1 (G2070S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258335	NM_001145418.2(TTC28):c.4816C>T (p.Leu1606Phe)	TTC28, TTC28-AS1 (L1606F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256844	NM_001145418.2(TTC28):c.7361C>T (p.Ala2454Val)	TTC28, TTC28-AS1 (A2336V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250700	NM_001145418.2(TTC28):c.5605G>T (p.Ala1869Ser)	TTC28, TTC28-AS1 (A1751S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246809	NM_001145418.2(TTC28):c.5659G>A (p.Val1887Ile)	TTC28, TTC28-AS1 (V1887I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236293	NM_001145418.2(TTC28):c.7131C>G (p.Ile2377Met)	TTC28, TTC28-AS1 (I2377M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218245	NM_001145418.2(TTC28):c.7031A>C (p.Lys2344Thr)	TTC28, TTC28-AS1 (K2226T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217422	NM_001145418.2(TTC28):c.6805C>T (p.Arg2269Trp)	TTC28, TTC28-AS1 (R2143W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212454	NM_001145418.2(TTC28):c.6074G>C (p.Arg2025Pro)	TTC28, TTC28-AS1 (R1899P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212418	NM_001145418.2(TTC28):c.4408C>T (p.Arg1470Trp)	TTC28, TTC28-AS1 (R1470W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208866	NM_001145418.2(TTC28):c.5941G>A (p.Gly1981Ser)	TTC28, TTC28-AS1 (G1981S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785920	NM_001145418.2(TTC28):c.6597G>A (p.Ala2199=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778199	NM_001145418.2(TTC28):c.7304G>A (p.Arg2435His)	TTC28-AS1, TTC28 (R2435H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 774361	NM_001145418.2(TTC28):c.6535C>T (p.Arg2179Cys)	TTC28, TTC28-AS1 (R2179C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 771537	NM_001145418.2(TTC28):c.4399-4C>T	TTC28, TTC28-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760709	NM_001145418.2(TTC28):c.6870C>T (p.Tyr2290=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739146	NM_001145418.2(TTC28):c.4341C>T (p.Tyr1447=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 723108	NM_001145418.2(TTC28):c.6639G>A (p.Ala2213=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718658	NM_001145418.2(TTC28):c.4255C>T (p.Arg1419Trp)	TTC28-AS1, TTC28 (R1419W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718657	NM_001145418.2(TTC28):c.5940C>T (p.Thr1980=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716651	NM_001145418.2(TTC28):c.5372G>A (p.Arg1791Gln)	TTC28-AS1, TTC28 (R1791Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714028	NM_001145418.2(TTC28):c.4962C>T (p.Leu1654=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 146030	GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1	LOC126863115, CHEK2 +13 more	Copy number loss	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic

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