TTC28[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	ASPHD2, CPMER +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	MN1, MYO18B +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	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 2381949	NM_001145418.2(TTC28):c.7366G>A (p.Ala2456Thr)	TTC28, TTC28-AS1 (A2338T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256844	NM_001145418.2(TTC28):c.7361C>T (p.Ala2454Val)	TTC28-AS1, TTC28 (A2336V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330389	NM_001145418.2(TTC28):c.7343C>T (p.Ala2448Val)	TTC28-AS1, TTC28 (A2330V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395453	NM_001145418.2(TTC28):c.7319C>T (p.Ser2440Leu)	TTC28-AS1, TTC28 (S2314L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778199	NM_001145418.2(TTC28):c.7304G>A (p.Arg2435His)	TTC28, TTC28-AS1 (R2435H +3 more)	Single nucleotide variant (missense variant)	TTC28-related condition +1 more	GLikely benign
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 condition	GBenign
Select item 3041446	NM_001145418.2(TTC28):c.7197A>G (p.Pro2399=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2236293	NM_001145418.2(TTC28):c.7131C>G (p.Ile2377Met)	TTC28-AS1, TTC28 (I2377M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218245	NM_001145418.2(TTC28):c.7031A>C (p.Lys2344Thr)	TTC28-AS1, TTC28 (K2226T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2328830	NM_001145418.2(TTC28):c.6994G>A (p.Ala2332Thr)	TTC28-AS1, TTC28 (A2206T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 760709	NM_001145418.2(TTC28):c.6870C>T (p.Tyr2290=)	TTC28-AS1, TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040223	NM_001145418.2(TTC28):c.6816C>T (p.Pro2272=)	TTC28-AS1, TTC28	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2217422	NM_001145418.2(TTC28):c.6805C>T (p.Arg2269Trp)	TTC28, TTC28-AS1 (R2143W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 785920	NM_001145418.2(TTC28):c.6597G>A (p.Ala2199=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition +1 more	GBenign
Select item 2393992	NM_001145418.2(TTC28):c.6596C>T (p.Ala2199Val)	TTC28, TTC28-AS1 (A2073V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2592381	NM_001145418.2(TTC28):c.6589G>A (p.Val2197Ile)	TTC28, TTC28-AS1 (V2189I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2262655	NM_001145418.2(TTC28):c.6586G>A (p.Gly2196Ser)	TTC28-AS1, TTC28 (G2070S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774361	NM_001145418.2(TTC28):c.6535C>T (p.Arg2179Cys)	TTC28, TTC28-AS1 (R2179C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2601640	NM_001145418.2(TTC28):c.6527C>A (p.Ala2176Glu)	TTC28, TTC28-AS1 (A2050E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374914	NM_001145418.2(TTC28):c.6439G>A (p.Val2147Met)	TTC28-AS1, TTC28 (V2139M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3037151	NM_001145418.2(TTC28):c.6393A>T (p.Ser2131=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GBenign
Select item 2621398	NM_001145418.2(TTC28):c.6260C>A (p.Pro2087His)	TTC28, TTC28-AS1 (P1961H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029195	NM_001145418.2(TTC28):c.6174G>C (p.Gly2058=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2212454	NM_001145418.2(TTC28):c.6074G>C (p.Arg2025Pro)	TTC28-AS1, TTC28 (R1899P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2569075	NM_001145418.2(TTC28):c.5771G>A (p.Arg1924Gln)	TTC28, TTC28-AS1 (R1806Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2313784	NM_001145418.2(TTC28):c.5726T>C (p.Val1909Ala)	TTC28-AS1, TTC28 (V1791A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3040953	NM_001145418.2(TTC28):c.5688C>T (p.His1896=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2246809	NM_001145418.2(TTC28):c.5659G>A (p.Val1887Ile)	TTC28-AS1, TTC28 (V1887I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3050362	NM_001145418.2(TTC28):c.5552G>A (p.Arg1851Gln)	TTC28, TTC28-AS1 (R1733Q +1 more)	Single nucleotide variant (missense variant)	TTC28-related condition	GLikely benign
Select item 2560759	NM_001145418.2(TTC28):c.5531C>G (p.Thr1844Arg)	TTC28, TTC28-AS1 (T1844R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 condition	GLikely benign
Select item 2362213	NM_001145418.2(TTC28):c.5429C>T (p.Pro1810Leu)	TTC28-AS1, TTC28 (P1810L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2357111	NM_001145418.2(TTC28):c.5386A>G (p.Thr1796Ala)	TTC28-AS1, TTC28 (T1796A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 716651	NM_001145418.2(TTC28):c.5372G>A (p.Arg1791Gln)	TTC28, TTC28-AS1 (R1791Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2510383	NM_001145418.2(TTC28):c.5329G>A (p.Gly1777Ser)	TTC28, TTC28-AS1 (G1659S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2356960	NM_001145418.2(TTC28):c.5282G>A (p.Arg1761His)	TTC28-AS1, TTC28 (R1761H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2406935	NM_001145418.2(TTC28):c.5210G>A (p.Arg1737His)	TTC28-AS1, TTC28 (R1619H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3046441	NM_001145418.2(TTC28):c.5205G>A (p.Pro1735=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2546729	NM_001145418.2(TTC28):c.5188G>C (p.Glu1730Gln)	TTC28, TTC28-AS1 (E1612Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281705	NM_001145418.2(TTC28):c.5035G>A (p.Gly1679Ser)	TTC28-AS1, TTC28 (G1679S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714028	NM_001145418.2(TTC28):c.4962C>T (p.Leu1654=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	TTC28-related condition +1 more	GBenign/Likely benign
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)	Inborn genetic diseases	GUncertain significance
Select item 2258335	NM_001145418.2(TTC28):c.4816C>T (p.Leu1606Phe)	TTC28-AS1, TTC28 (L1606F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 3048180	NM_001145418.2(TTC28):c.4719C>T (p.Phe1573=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2495056	NM_001145418.2(TTC28):c.4582G>A (p.Ala1528Thr)	TTC28, TTC28-AS1 (A1528T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 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 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 condition	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 718658	NM_001145418.2(TTC28):c.4255C>T (p.Arg1419Trp)	TTC28, TTC28-AS1 (R1419W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3030448	NM_001145418.2(TTC28):c.4242C>T (p.Pro1414=)	TTC28, TTC28-AS1	Single nucleotide variant (synonymous variant +1 more)	TTC28-related condition	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)	Inborn genetic diseases	GUncertain significance
Select item 2284803	NM_001145418.2(TTC28):c.4181G>A (p.Arg1394His)	TTC28 (R1276H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354658	NM_001145418.2(TTC28):c.4172C>T (p.Pro1391Leu)	TTC28 (P1273L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716253	NM_001145418.2(TTC28):c.4141C>G (p.Leu1381Val)	TTC28 (L1381V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2395140	NM_001145418.2(TTC28):c.4118C>T (p.Pro1373Leu)	TTC28 (P1373L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401203	NM_001145418.2(TTC28):c.4091C>T (p.Thr1364Met)	TTC28 (T1364M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473828	NM_001145418.2(TTC28):c.4057A>C (p.Asn1353His)	TTC28 (N1353H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358886	NM_001145418.2(TTC28):c.4054C>T (p.Arg1352Cys)	TTC28 (R1352C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209503	NM_001145418.2(TTC28):c.4051C>T (p.Arg1351Cys)	TTC28 (R1233C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303884	NM_001145418.2(TTC28):c.4039C>G (p.Leu1347Val)	TTC28 (L1229V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653036	NM_001145418.2(TTC28):c.4017G>A (p.Ser1339=)	TTC28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467521	NM_001145418.2(TTC28):c.3994G>A (p.Glu1332Lys)	TTC28 (E1332K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351037	NM_001145418.2(TTC28):c.3865G>A (p.Gly1289Ser)	TTC28 (G1171S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2258100	NM_001145418.2(TTC28):c.3613G>A (p.Val1205Met)	TTC28 (V1205M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696713	NM_001145418.2(TTC28):c.3536T>C (p.Leu1179Pro)	TTC28 (L1061P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032467	NM_001145418.2(TTC28):c.3375C>T (p.Leu1125=)	TTC28	Single nucleotide variant (synonymous variant)	TTC28-related condition	GLikely benign
Select item 2315575	NM_001145418.2(TTC28):c.3335G>A (p.Arg1112Gln)	TTC28 (R1112Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234351	NM_001145418.2(TTC28):c.3331G>A (p.Gly1111Ser)	TTC28 (G1111S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405319	NM_001145418.2(TTC28):c.3214G>A (p.Asp1072Asn)	TTC28 (D954N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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