ClinVar for Gene (Select 79887) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2642755	NM_024829.6(PLBD1):c.1313G>A (p.Arg438Gln)	PLBD1 (R438Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2602064	NM_024829.6(PLBD1):c.1267G>A (p.Gly423Ser)	PLBD1 (G423S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599135	NM_024829.6(PLBD1):c.1517A>T (p.Tyr506Phe)	PLBD1 (Y506F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545098	NM_024829.6(PLBD1):c.233G>A (p.Gly78Asp)	PLBD1 (G78D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522962	NM_024829.6(PLBD1):c.1111A>G (p.Lys371Glu)	PLBD1 (K371E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516083	NM_024829.6(PLBD1):c.496A>G (p.Met166Val)	LOC101928317, PLBD1 (M166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485347	NM_024829.6(PLBD1):c.661A>G (p.Lys221Glu)	LOC101928317, PLBD1 (K221E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457120	NM_024829.6(PLBD1):c.139T>G (p.Trp47Gly)	PLBD1 (W47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2404478	NM_024829.6(PLBD1):c.175G>A (p.Val59Ile)	PLBD1 (V59I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2400862	NM_024829.6(PLBD1):c.1205A>G (p.Asn402Ser)	PLBD1 (N402S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370431	NM_024829.6(PLBD1):c.1364G>A (p.Arg455Gln)	PLBD1 (R455Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368153	NM_024829.6(PLBD1):c.344A>G (p.Asn115Ser)	LOC101928317, PLBD1 (N115S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367058	NM_024829.6(PLBD1):c.233G>C (p.Gly78Ala)	PLBD1 (G78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325472	NM_024829.6(PLBD1):c.698A>G (p.Lys233Arg)	LOC101928317, PLBD1 (K233R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275017	NM_024829.6(PLBD1):c.688G>A (p.Ala230Thr)	LOC101928317, PLBD1 (A230T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247936	NM_024829.6(PLBD1):c.1319A>G (p.Asp440Gly)	PLBD1 (D440G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243836	NM_024829.6(PLBD1):c.1562G>A (p.Arg521His)	PLBD1 (R521H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2225675	NM_024829.6(PLBD1):c.857C>G (p.Ser286Cys)	PLBD1 (S286C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214043	NM_024829.6(PLBD1):c.979C>T (p.Arg327Cys)	PLBD1 (R327C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208042	NM_024829.6(PLBD1):c.1316G>A (p.Arg439His)	PLBD1 (R439H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	RECQL, RERG +85 more	Copy number loss	not provided	GPathogenic
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 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
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 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 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443436	GRCh37/hg19 12p13.1-12.3(chr12:14269084-14855982)x1	ATF7IP, GUCY2C +1 more	Copy number loss	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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 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	AGAP2, ARF3 +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
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	PRB2, PRB3 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007339, LOC130007340 +698 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 58