ClinVar for Gene (Select 440730) - ClinVar

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Links from Gene

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328915	NM_001004342.5(TRIM67):c.943T>C (p.Cys315Arg)	TRIM67 (C315R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328914	NM_001004342.5(TRIM67):c.922A>G (p.Met308Val)	TRIM67 (M308V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328913	NM_001004342.5(TRIM67):c.136C>T (p.Pro46Ser)	TRIM67 (P46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182742	NM_001004342.5(TRIM67):c.959C>T (p.Thr320Ile)	TRIM67 (T258I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182741	NM_001004342.5(TRIM67):c.887C>A (p.Thr296Lys)	TRIM67 (T234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182740	NM_001004342.5(TRIM67):c.605C>A (p.Ala202Asp)	TRIM67 (A162D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182739	NM_001004342.5(TRIM67):c.590C>G (p.Pro197Arg)	TRIM67 (P157R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182737	NM_001004342.5(TRIM67):c.497C>T (p.Ala166Val)	TRIM67 (A126V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182736	NM_001004342.5(TRIM67):c.391G>A (p.Val131Met)	TRIM67 (V131M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182735	NM_001004342.5(TRIM67):c.272G>T (p.Gly91Val)	TRIM67 (G51V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182734	NM_001004342.5(TRIM67):c.2297A>G (p.His766Arg)	TRIM67 (H704R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182732	NM_001004342.5(TRIM67):c.2141G>A (p.Cys714Tyr)	TRIM67 (C652Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182731	NM_001004342.5(TRIM67):c.1849G>A (p.Gly617Arg)	TRIM67 (G555R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182730	NM_001004342.5(TRIM67):c.181G>A (p.Ala61Thr)	TRIM67 (A61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182728	NM_001004342.5(TRIM67):c.1537C>G (p.Pro513Ala)	TRIM67 (P513A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182727	NM_001004342.5(TRIM67):c.1529G>A (p.Cys510Tyr)	TRIM67 (C448Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2615545	NM_001004342.5(TRIM67):c.1147G>A (p.Gly383Arg)	TRIM67 (G321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612297	NM_001004342.5(TRIM67):c.590C>T (p.Pro197Leu)	TRIM67 (P157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610977	NM_001004342.5(TRIM67):c.927G>C (p.Glu309Asp)	TRIM67 (E309D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606118	NM_001004342.5(TRIM67):c.161G>A (p.Gly54Glu)	TRIM67 (G54E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2545935	NM_001004342.5(TRIM67):c.1844A>G (p.Asn615Ser)	TRIM67 (N553S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540523	NM_001004342.5(TRIM67):c.533G>T (p.Arg178Leu)	TRIM67 (R138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518017	NM_001004342.5(TRIM67):c.1445A>G (p.Lys482Arg)	TRIM67 (K482R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488791	NM_001004342.5(TRIM67):c.2155G>A (p.Val719Met)	TRIM67 (V717M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480193	NM_001004342.5(TRIM67):c.1006G>C (p.Glu336Gln)	TRIM67 (E274Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479373	NM_001004342.5(TRIM67):c.929A>G (p.Asn310Ser)	TRIM67 (N310S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464917	NM_001004342.5(TRIM67):c.1969G>A (p.Val657Met)	TRIM67 (V595M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425915	NC_000001.10:g.(?_229567246)_(231413288_?)del	GALNT2, C1orf131 +15 more	Deletion	not provided	GPathogenic
Select item 2425124	NC_000001.10:g.(?_230203028)_(231413288_?)del	AGT, ARV1 +10 more	Deletion	Congenital disorder of glycosylation, type IIq	GPathogenic
Select item 2407786	NM_001004342.5(TRIM67):c.532C>A (p.Arg178Ser)	TRIM67 (R138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370682	NM_001004342.5(TRIM67):c.1934C>T (p.Ala645Val)	TRIM67 (A645V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352198	NM_001004342.5(TRIM67):c.1666G>A (p.Gly556Arg)	TRIM67 (G556R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351669	NM_001004342.5(TRIM67):c.1382A>C (p.Asp461Ala)	TRIM67 (D399A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334841	NM_001004342.5(TRIM67):c.1826G>C (p.Trp609Ser)	TRIM67 (W547S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322573	NM_001004342.5(TRIM67):c.427C>T (p.Arg143Trp)	TRIM67 (R103W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316714	NM_001004342.5(TRIM67):c.179G>T (p.Gly60Val)	TRIM67 (G60V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315574	NM_001004342.5(TRIM67):c.820G>T (p.Ala274Ser)	TRIM67 (A274S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307753	NM_001004342.5(TRIM67):c.757C>T (p.Pro253Ser)	TRIM67 (P253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300475	NM_001004342.5(TRIM67):c.748C>A (p.Leu250Met)	TRIM67 (L210M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292577	NM_001004342.5(TRIM67):c.1993G>T (p.Asp665Tyr)	TRIM67 (D663Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247969	NM_001004342.5(TRIM67):c.2108A>G (p.Asn703Ser)	TRIM67 (N701S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247732	NM_001004342.5(TRIM67):c.418G>A (p.Ala140Thr)	TRIM67 (A100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238293	NM_001004342.5(TRIM67):c.1141G>A (p.Glu381Lys)	TRIM67 (E319K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218952	NM_001004342.5(TRIM67):c.1577G>A (p.Arg526His)	TRIM67 (R524H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207204	NM_001004342.5(TRIM67):c.32G>C (p.Gly11Ala)	TRIM67 (G11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814177	GRCh37/hg19 1q42.13-42.2(chr1:230616084-231410027)x3	COG2, FAM89A +8 more	Copy number gain	not provided	GUncertain significance
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 686696	GRCh37/hg19 1q42.2(chr1:230921930-231387086)x3	ARV1, C1orf131 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441681	GRCh37/hg19 1q42.13-42.2(chr1:230619349-231413907)x3	AGT, ARV1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 395382	GRCh37/hg19 1q42.2(chr1:231354205-231372444)x1	C1orf131, TRIM67	Copy number loss	See cases	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 161003	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 144135	GRCh38/hg38 1q42.2(chr1:230749331-231192557)x1	ARV1, C1orf198 +22 more	Copy number loss	See cases	GUncertain significance
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57820	GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3	AGT, ARV1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 32991	GRCh38/hg38 1q42.2(chr1:230519755-231232066)x3	AGT, ARV1 +34 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 91