ClinVar for Gene (Select 121536) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274139	NM_153207.5(AEBP2):c.1012A>G (p.Ser338Gly)	AEBP2 (S338G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274133	NM_153207.5(AEBP2):c.812G>T (p.Cys271Phe)	AEBP2 (C271F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274126	NM_153207.5(AEBP2):c.306C>A (p.Asp102Glu)	AEBP2 (D102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274117	NM_153207.5(AEBP2):c.127G>A (p.Glu43Lys)	AEBP2 (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091514	NM_153207.5(AEBP2):c.97G>C (p.Ala33Pro)	AEBP2, LOC130007516 (A33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091507	NM_153207.5(AEBP2):c.845T>C (p.Ile282Thr)	AEBP2 (I66T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091503	NM_153207.5(AEBP2):c.706A>G (p.Ile236Val)	AEBP2 (I20V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091499	NM_153207.5(AEBP2):c.68G>C (p.Gly23Ala)	AEBP2, LOC130007516 (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091479	NM_153207.5(AEBP2):c.338G>A (p.Ser113Asn)	AEBP2 (S113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091467	NM_153207.5(AEBP2):c.291A>C (p.Glu97Asp)	AEBP2 (E97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091461	NM_153207.5(AEBP2):c.19G>T (p.Asp7Tyr)	AEBP2, LOC130007516 (D7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091454	NM_153207.5(AEBP2):c.1395T>G (p.Ser465Arg)	AEBP2 (S465R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091439	NM_153207.5(AEBP2):c.10G>T (p.Ala4Ser)	AEBP2, LOC130007516 (A4S)	Single nucleotide variant (missense variant)	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 2598934	NM_153207.5(AEBP2):c.64C>G (p.Pro22Ala)	AEBP2, LOC130007516 (P22A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548310	NM_153207.5(AEBP2):c.920C>T (p.Thr307Ile)	AEBP2 (T91I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547992	NM_153207.5(AEBP2):c.131A>C (p.Glu44Ala)	AEBP2, LOC130007517 (E44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547062	NM_153207.5(AEBP2):c.61C>T (p.Pro21Ser)	AEBP2, LOC130007516 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545116	NM_153207.5(AEBP2):c.248C>G (p.Ser83Trp)	AEBP2 (S83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541182	NM_153207.5(AEBP2):c.403G>T (p.Asp135Tyr)	AEBP2 (D135Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526646	NM_153207.5(AEBP2):c.323A>C (p.Asp108Ala)	AEBP2 (D108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2398054	NM_153207.5(AEBP2):c.197G>A (p.Gly66Asp)	AEBP2, LOC130007517 (G66D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389249	NM_153207.5(AEBP2):c.453T>A (p.Asp151Glu)	AEBP2 (D151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380381	NM_153207.5(AEBP2):c.306C>G (p.Asp102Glu)	AEBP2 (D102E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358793	NM_153207.5(AEBP2):c.106C>G (p.Pro36Ala)	AEBP2, LOC130007516 (P36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337544	NM_153207.5(AEBP2):c.134A>G (p.Glu45Gly)	AEBP2, LOC130007517 (E45G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318942	NM_153207.5(AEBP2):c.303G>C (p.Glu101Asp)	AEBP2 (E101D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317579	NM_153207.5(AEBP2):c.47G>C (p.Arg16Pro)	AEBP2, LOC130007516 (R16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298814	NM_153207.5(AEBP2):c.419T>G (p.Leu140Trp)	AEBP2 (L140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296955	NM_153207.5(AEBP2):c.1145A>G (p.Lys382Arg)	AEBP2 (K166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295053	NM_153207.5(AEBP2):c.776T>C (p.Ile259Thr)	AEBP2 (I259T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291506	NM_153207.5(AEBP2):c.605G>A (p.Gly202Asp)	AEBP2 (G202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254652	NM_153207.5(AEBP2):c.983T>C (p.Phe328Ser)	AEBP2 (F328S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248110	NM_153207.5(AEBP2):c.531C>G (p.Ser177Arg)	AEBP2 (S177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242997	NM_153207.5(AEBP2):c.568G>C (p.Gly190Arg)	AEBP2 (G190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215694	NM_153207.5(AEBP2):c.112G>A (p.Glu38Lys)	AEBP2, LOC130007516 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	CREBL2, DDX47 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527691	GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)	AEBP2, GOLT1B +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527690	GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899)	AEBP2, PDE3A +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	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 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	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 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 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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 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
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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 72