ClinVar for Gene (Select 440730) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

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	ABCB10, ACTA1 +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	FCGR3A, LCE3C +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 91