ClinVar for Gene (Select 64761) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304369	NM_022750.4(PARP12):c.248C>T (p.Pro83Leu)	LOC129999488, PARP12 (P83L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304368	NM_022750.4(PARP12):c.1189G>T (p.Val397Leu)	PARP12 (V397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208711	NM_022750.4(PARP12):c.755C>G (p.Thr252Ser)	PARP12 (T252S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208710	NM_022750.4(PARP12):c.683G>T (p.Arg228Ile)	PARP12 (R228I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208709	NM_022750.4(PARP12):c.682A>G (p.Arg228Gly)	PARP12 (R228G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208708	NM_022750.4(PARP12):c.37G>A (p.Val13Met)	LOC129999488, PARP12 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208707	NM_022750.4(PARP12):c.256G>T (p.Val86Leu)	LOC129999488, PARP12 (V86L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208706	NM_022750.4(PARP12):c.2029T>C (p.Tyr677His)	PARP12 (Y677H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208705	NM_022750.4(PARP12):c.1882G>A (p.Val628Ile)	PARP12 (V628I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208704	NM_022750.4(PARP12):c.1831G>A (p.Asp611Asn)	PARP12 (D611N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208702	NM_022750.4(PARP12):c.1702G>A (p.Ala568Thr)	PARP12 (A568T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208701	NM_022750.4(PARP12):c.1663A>C (p.Lys555Gln)	PARP12 (K555Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208700	NM_022750.4(PARP12):c.1505C>T (p.Thr502Ile)	PARP12 (T502I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208699	NM_022750.4(PARP12):c.1066G>A (p.Ala356Thr)	PARP12 (A356T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658018	NM_022750.4(PARP12):c.1498-5T>C	PARP12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2622060	NM_022750.4(PARP12):c.185C>T (p.Pro62Leu)	LOC129999488, PARP12 (P62L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609878	NM_022750.4(PARP12):c.284G>A (p.Cys95Tyr)	LOC129999488, PARP12 (C95Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602991	NM_022750.4(PARP12):c.1796G>A (p.Arg599Gln)	PARP12 (R599Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599081	NM_022750.4(PARP12):c.1168G>A (p.Glu390Lys)	PARP12 (E390K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2561313	NM_022750.4(PARP12):c.950T>G (p.Leu317Arg)	PARP12 (L317R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551866	NM_022750.4(PARP12):c.860A>T (p.Gln287Leu)	PARP12 (Q287L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532174	NM_022750.4(PARP12):c.278A>T (p.His93Leu)	LOC129999488, PARP12 (H93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509539	NM_022750.4(PARP12):c.1555C>T (p.Arg519Cys)	PARP12 (R519C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474086	NM_022750.4(PARP12):c.176C>T (p.Ala59Val)	LOC129999488, PARP12 (A59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460478	NM_022750.4(PARP12):c.1434T>G (p.Phe478Leu)	PARP12 (F478L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	SSBP1, TAS2R3 +34 more	Deletion	not provided	GPathogenic
Select item 2411352	NM_022750.4(PARP12):c.1657G>A (p.Gly553Arg)	PARP12 (G553R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404855	NM_022750.4(PARP12):c.1100A>G (p.Lys367Arg)	PARP12 (K367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404249	NM_022750.4(PARP12):c.1678C>T (p.Arg560Trp)	PARP12 (R560W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394549	NM_022750.4(PARP12):c.158T>G (p.Val53Gly)	LOC129999488, PARP12 (V53G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379868	NM_022750.4(PARP12):c.841C>T (p.Arg281Trp)	PARP12 (R281W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371760	NM_022750.4(PARP12):c.842G>A (p.Arg281Gln)	PARP12 (R281Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371550	NM_022750.4(PARP12):c.1213A>G (p.Ser405Gly)	PARP12 (S405G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370207	NM_022750.4(PARP12):c.152T>G (p.Val51Gly)	LOC129999488, PARP12 (V51G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357637	NM_022750.4(PARP12):c.394G>A (p.Val132Ile)	PARP12 (V132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342741	NM_022750.4(PARP12):c.1025A>T (p.His342Leu)	PARP12 (H342L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309675	NM_022750.4(PARP12):c.751G>A (p.Gly251Arg)	PARP12 (G251R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276188	NM_022750.4(PARP12):c.587A>G (p.Lys196Arg)	PARP12 (K196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269761	NM_022750.4(PARP12):c.367A>G (p.Asn123Asp)	PARP12 (N123D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245568	NM_022750.4(PARP12):c.188A>C (p.Glu63Ala)	LOC129999488, PARP12 (E63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233360	NM_022750.4(PARP12):c.1894G>C (p.Ala632Pro)	PARP12 (A632P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ADCK2, AGK +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 783511	NM_022750.4(PARP12):c.359C>T (p.Thr120Ile)	PARP12 (T120I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783510	NM_022750.4(PARP12):c.1053C>T (p.Tyr351=)	PARP12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 724739	NM_022750.4(PARP12):c.1257G>T (p.Gly419=)	PARP12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686834	GRCh37/hg19 7q34(chr7:139537665-139839752)x3	KDM7A, PARP12 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563333	GRCh37/hg19 7q34(chr7:139536714-139850247)x3	PARP12, TBXAS1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 154270	GRCh38/hg38 7q34(chr7:139476271-140449156)x1	CLEC2L, HIPK2 +53 more	Copy number loss	See cases	GUncertain significance
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 89