ClinVar for Gene (Select 57097) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208698	NM_020367.6(PARP11):c.904G>A (p.Gly302Arg)	PARP11 (G221R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208697	NM_020367.6(PARP11):c.556G>T (p.Ala186Ser)	PARP11 (A186S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208696	NM_020367.6(PARP11):c.469T>A (p.Phe157Ile)	PARP11 (F76I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208695	NM_020367.6(PARP11):c.443A>G (p.His148Arg)	PARP11 (H148R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
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 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2592201	NM_020367.6(PARP11):c.689T>C (p.Val230Ala)	PARP11 (V230A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509435	NM_020367.6(PARP11):c.434A>G (p.Asn145Ser)	PARP11 (N64S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2375419	NM_020367.6(PARP11):c.379C>T (p.Pro127Ser)	PARP11 (P127S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328862	NM_020367.6(PARP11):c.190G>A (p.Glu64Lys)	PARP11 (E64K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2309614	NM_020367.6(PARP11):c.413A>G (p.Tyr138Cys)	PARP11 (Y138C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295272	NM_020367.6(PARP11):c.595G>C (p.Glu199Gln)	PARP11 (E118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288378	NM_020367.6(PARP11):c.209A>G (p.Asn70Ser)	PARP11 (N70S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282946	NM_020367.6(PARP11):c.737G>A (p.Arg246His)	PARP11 (R246H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204111	NM_020367.6(PARP11):c.236C>A (p.Thr79Asn)	PARP11 (T79N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808269	GRCh37/hg19 12p13.32(chr12:3761477-3926800)x1	CRACR2A, PARP11	Copy number loss	not provided	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 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	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 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	C1R, NINJ2 +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 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 979958	GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1	ADIPOR2, B4GALNT3 +33 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 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 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 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 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	A2ML1, A2ML1-AS1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563982	GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	not provided	GPathogenic
Select item 523246	GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)	PARP11, CRACR2A +2 more	Copy number loss	Global developmental delay +1 more	GUncertain significance
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	A2M, A2ML1 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, C12orf4 +13 more	Copy number loss	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 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	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 253551	GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1	ADIPOR2, B4GALNT3 +27 more	Copy number loss	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 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	LOC130007148, LOC130007149 +223 more	Copy number gain	See cases	GPathogenic
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 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	LOC126861417, LOC126861418 +147 more	Copy number loss	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 149766	GRCh38/hg38 12p13.32(chr12:3404282-3895416)x1	CRACR2A, LOC130007192 +6 more	Copy number loss	See cases	GLikely benign
Select item 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	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 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	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 146376	GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3	C12orf4, CCND2 +30 more	Copy number gain	See cases	GLikely benign
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 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 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, C12orf4 +91 more	Copy number loss	See cases	GPathogenic
Select item 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 75