11955[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 2330566	NM_001385745.1(ZNF384):c.1767G>C (p.Lys589Asn)	ZNF384 (K428N +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334332	NM_001385745.1(ZNF384):c.1754C>T (p.Ala585Val)	ZNF384 (A454V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642632	NM_001385745.1(ZNF384):c.1743G>A (p.Pro581=)	ZNF384	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3335613	NM_001385745.1(ZNF384):c.1712C>T (p.Pro571Leu)	ZNF384 (P431L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567562	NM_001385745.1(ZNF384):c.1688G>A (p.Gly563Asp)	ZNF384 (G486D +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388244	NM_001385745.1(ZNF384):c.1645C>T (p.Pro549Ser)	ZNF384 (P409S +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195453	NM_001385745.1(ZNF384):c.1602G>T (p.Gln534His)	ZNF384 (Q473H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279187	NM_001385745.1(ZNF384):c.1567G>C (p.Ala523Pro)	ZNF384 (A376P +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195452	NM_001385745.1(ZNF384):c.1523A>T (p.Gln508Leu)	ZNF384 (Q347L +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195451	NM_001385745.1(ZNF384):c.1481A>G (p.Gln494Arg)	ZNF384 (Q410R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195450	NM_001385745.1(ZNF384):c.1451G>A (p.Arg484His)	ZNF384 (R423H +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342442	NM_001385745.1(ZNF384):c.1438A>G (p.Met480Val)	ZNF384 (M340V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299832	NM_001385745.1(ZNF384):c.1324G>A (p.Ala442Thr)	ZNF384 (A311T +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335615	NM_001385745.1(ZNF384):c.1309C>T (p.His437Tyr)	ZNF384 (H329Y +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3195449	NM_001385745.1(ZNF384):c.1277G>A (p.Arg426Gln)	ZNF384 (R318Q +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273219	NM_001385745.1(ZNF384):c.1076A>C (p.Asn359Thr)	ZNF384 (N304T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335614	NM_001385745.1(ZNF384):c.1035C>G (p.Ile345Met)	ZNF384 (I290M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621552	NM_001385745.1(ZNF384):c.1034T>C (p.Ile345Thr)	ZNF384 (I290T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410824	NM_001385745.1(ZNF384):c.1033A>G (p.Ile345Val)	ZNF384 (I259V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623045	NM_001385745.1(ZNF384):c.907G>A (p.Ala303Thr)	ZNF384 (A217T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247154	NM_001385745.1(ZNF384):c.673G>A (p.Gly225Ser)	ZNF384 (G170S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476314	NM_001385745.1(ZNF384):c.575G>A (p.Arg192Gln)	ZNF384 (R176Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3195454	NM_001385745.1(ZNF384):c.553A>G (p.Ser185Gly)	ZNF384 (S169G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642633	NM_001385745.1(ZNF384):c.519C>T (p.Thr173=)	ZNF384	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361586	NM_001385745.1(ZNF384):c.514C>A (p.Leu172Ile)	ZNF384 (L117I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553129	NM_001385745.1(ZNF384):c.478G>A (p.Val160Ile)	ZNF384 (V121I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411931	NM_001385745.1(ZNF384):c.467A>C (p.Gln156Pro)	ZNF384 (Q108P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311174	NM_001385745.1(ZNF384):c.451C>A (p.Leu151Ile)	ZNF384 (L103I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335617	NM_001385745.1(ZNF384):c.401C>T (p.Ala134Val)	ZNF384 (A118V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3335616	NM_001385745.1(ZNF384):c.400G>T (p.Ala134Ser)	ZNF384 (A118S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2615218	NM_001385745.1(ZNF384):c.266C>T (p.Thr89Met)	ZNF384 (T89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312139	NM_001385745.1(ZNF384):c.139C>T (p.Pro47Ser)	ZNF384 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	COPS7A, DPPA3 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 80