"GeneDx"[submitter] AND "THOC2"[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 1186698	NM_001081550.2(THOC2):c.4766C>T (p.Ser1589Leu)	THOC2 (S1589L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429653	NM_001081550.2(THOC2):c.4664C>T (p.Ser1555Phe)	THOC2 (S1555F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375511	NM_001081550.2(THOC2):c.4538A>G (p.Lys1513Arg)	THOC2 (K1513R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695615	NM_001081550.2(THOC2):c.4438G>C (p.Glu1480Gln)	THOC2 (E1480Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663539	NM_001081550.2(THOC2):c.4431C>G (p.Asp1477Glu)	THOC2 (D1477E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326782	NM_001081550.2(THOC2):c.4425_4430del (p.Glu1475_Lys1476del)	THOC2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2817293	NM_001081550.2(THOC2):c.4403G>A (p.Arg1468Lys)	THOC2 (R1468K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329531	NM_001081550.2(THOC2):c.4336C>T (p.Pro1446Ser)	THOC2 (P1446S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372942	NM_001081550.2(THOC2):c.4274A>T (p.Lys1425Met)	THOC2 (K1425M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573689	NM_001081550.2(THOC2):c.4229G>A (p.Arg1410His)	THOC2 (R1410H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376070	NM_001081550.2(THOC2):c.4198A>G (p.Ile1400Val)	THOC2 (I1400V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579444	NM_001081550.2(THOC2):c.4169C>T (p.Ser1390Phe)	THOC2 (S1390F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365169	NM_001081550.2(THOC2):c.4106T>C (p.Ile1369Thr)	THOC2 (I1369T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371754	NM_001081550.2(THOC2):c.3995A>G (p.Lys1332Arg)	THOC2 (K1332R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707803	NM_001081550.2(THOC2):c.3919C>T (p.Arg1307Trp)	THOC2 (R1307W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328795	NM_001081550.2(THOC2):c.3773G>A (p.Ser1258Asn)	THOC2 (S1258N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303879	NM_001081550.2(THOC2):c.3770A>C (p.Asn1257Thr)	THOC2 (N1257T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313650	NM_001081550.2(THOC2):c.3624TTC[1] (p.Ser1212del)	THOC2 (S1212del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1314592	NM_001081550.2(THOC2):c.3626C>T (p.Ser1209Phe)	THOC2 (S1209F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704141	NM_001081550.2(THOC2):c.3578C>A (p.Pro1193Gln)	THOC2 (P1193Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194661	NM_001081550.2(THOC2):c.3508T>C (p.Ser1170Pro)	THOC2 (S1170P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367378	NM_001081550.2(THOC2):c.3337G>A (p.Glu1113Lys)	THOC2 (E1113K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573759	NM_001081550.2(THOC2):c.3188A>G (p.Glu1063Gly)	THOC2 (E1063G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413107	NM_001081550.2(THOC2):c.3113G>A (p.Arg1038Gln)	THOC2 (R1038Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307534	NM_001081550.2(THOC2):c.3058-6C>A	THOC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1257145	NM_001081550.2(THOC2):c.3058-9C>T	THOC2	Single nucleotide variant (intron variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GBenign
Select item 1801970	NM_001081550.2(THOC2):c.2788C>T (p.Arg930Cys)	THOC2 (R930C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3257200	NM_001081550.2(THOC2):c.2755A>G (p.Met919Val)	THOC2 (M919V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029051	NM_001081550.2(THOC2):c.2734G>C (p.Ala912Pro)	THOC2 (A912P)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 804356	NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys)	THOC2 (Y881C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372919	NM_001081550.2(THOC2):c.2635C>G (p.Gln879Glu)	THOC2 (Q879E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342610	NM_001081550.2(THOC2):c.2482-1_2484del	THOC2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1710793	NM_001081550.2(THOC2):c.2398A>G (p.Ile800Val)	THOC2 (I800V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706400	NM_001081550.2(THOC2):c.2309A>G (p.Tyr770Cys)	THOC2 (Y770C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372157	NM_001081550.2(THOC2):c.2216C>T (p.Ala739Val)	THOC2 (A739V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801905	NM_001081550.2(THOC2):c.2210A>G (p.Asp737Gly)	THOC2 (D737G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580065	NM_001081550.2(THOC2):c.2065A>G (p.Ile689Val)	THOC2 (I689V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973335	NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly)	THOC2 (D656G)	Single nucleotide variant (missense variant)	X-linked intellectual disability-short stature-overweight syndrome +1 more	GUncertain significance
Select item 1313087	NM_001081550.2(THOC2):c.1880G>A (p.Arg627Lys)	THOC2 (R627K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663631	NM_001081550.2(THOC2):c.1862C>A (p.Ala621Asp)	THOC2 (A621D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307418	NM_001081550.2(THOC2):c.1724A>G (p.Asn575Ser)	THOC2 (N575S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712049	NM_001081550.2(THOC2):c.1663C>T (p.Arg555Cys)	THOC2 (R555C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310467	NM_001081550.2(THOC2):c.1604A>G (p.His535Arg)	THOC2 (H535R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313511	NM_001081550.2(THOC2):c.1592C>T (p.Thr531Ile)	THOC2 (T531I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711974	NM_001081550.2(THOC2):c.1571A>T (p.Tyr524Phe)	THOC2 (Y524F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504329	NM_001081550.2(THOC2):c.1502A>G (p.Asn501Ser)	THOC2 (N501S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315273	NM_001081550.2(THOC2):c.1386G>A (p.Glu462=)	THOC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3370786	NM_001081550.2(THOC2):c.1340T>A (p.Ile447Asn)	THOC2 (I447N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369393	NM_001081550.2(THOC2):c.1321C>T (p.His441Tyr)	THOC2 (H441Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335790	NM_001081550.2(THOC2):c.1240A>T (p.Asn414Tyr)	THOC2 (N414Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430594	NM_001081550.2(THOC2):c.1238A>G (p.Gln413Arg)	THOC2 (Q413R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302165	NM_001081550.2(THOC2):c.1061A>G (p.Lys354Arg)	THOC2 (K354R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329003	NM_001081550.2(THOC2):c.923A>G (p.Gln308Arg)	THOC2 (Q308R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1695657	NM_001081550.2(THOC2):c.908T>C (p.Ile303Thr)	THOC2 (I303T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579455	NM_001081550.2(THOC2):c.869C>T (p.Pro290Leu)	THOC2 (P290L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576801	NM_001081550.2(THOC2):c.784A>G (p.Thr262Ala)	THOC2 (T262A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708663	NM_001081550.2(THOC2):c.610A>C (p.Asn204His)	THOC2 (N204H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364943	NM_001081550.2(THOC2):c.506A>G (p.Asn169Ser)	THOC2 (N169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378243	NM_001081550.2(THOC2):c.241C>T (p.Pro81Ser)	THOC2 (P81S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488436	NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)	THOC2 (R77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2446078	NM_001081550.2(THOC2):c.72-5T>A	THOC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3362076	NM_001081550.2(THOC2):c.4240A>G (p.Thr1414Ala)	THOC2 (T1414A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360915	NM_001081550.2(THOC2):c.4720C>T (p.Arg1574Trp)	THOC2 (R1574W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360798	NM_001081550.2(THOC2):c.2554T>A (p.Ser852Thr)	THOC2 (S852T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359843	NM_001081550.2(THOC2):c.709A>T (p.Ser237Cys)	THOC2 (S237C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359532	NM_001081550.2(THOC2):c.1630C>G (p.Gln544Glu)	THOC2 (Q544E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 85