PPP1R12B[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 3309317	NM_002481.4(PPP1R12B):c.53G>A (p.Arg18Gln)	PPP1R12B (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217415	NM_002481.4(PPP1R12B):c.227A>G (p.Lys76Arg)	PPP1R12B (K76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486104	NM_002481.4(PPP1R12B):c.257C>T (p.Thr86Met)	PPP1R12B (T86M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590905	NM_002481.4(PPP1R12B):c.341G>C (p.Arg114Thr)	PPP1R12B (R114T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481049	NM_002481.4(PPP1R12B):c.433A>C (p.Asn145His)	PPP1R12B (N145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339501	NM_002481.4(PPP1R12B):c.461A>G (p.Asn154Ser)	PPP1R12B (N154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514603	NM_002481.4(PPP1R12B):c.468A>T (p.Glu156Asp)	PPP1R12B (E156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309315	NM_002481.4(PPP1R12B):c.505A>G (p.Met169Val)	PPP1R12B (M169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515385	NM_002481.4(PPP1R12B):c.545T>C (p.Val182Ala)	PPP1R12B (V182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508226	NM_002481.4(PPP1R12B):c.578A>G (p.Gln193Arg)	PPP1R12B (Q193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615902	NM_002481.4(PPP1R12B):c.623T>C (p.Ile208Thr)	PPP1R12B (I208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328902	NM_002481.4(PPP1R12B):c.674C>T (p.Ala225Val)	PPP1R12B (A225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639787	NM_002481.4(PPP1R12B):c.738_740del (p.Gln246_Asp247delinsHis)	PPP1R12B	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2608512	NM_002481.4(PPP1R12B):c.757C>T (p.Pro253Ser)	PPP1R12B (P253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309321	NM_002481.4(PPP1R12B):c.817C>G (p.Leu273Val)	PPP1R12B (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241715	NM_002481.4(PPP1R12B):c.929G>C (p.Ser310Thr)	PPP1R12B (S310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478599	NM_002481.4(PPP1R12B):c.938A>C (p.Glu313Ala)	PPP1R12B (E313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217420	NM_002481.4(PPP1R12B):c.967C>A (p.Leu323Met)	PPP1R12B (L323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217421	NM_002481.4(PPP1R12B):c.982C>G (p.Gln328Glu)	PPP1R12B (Q328E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309322	NM_002481.4(PPP1R12B):c.1042C>A (p.Gln348Lys)	PPP1R12B (Q348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217409	NM_002481.4(PPP1R12B):c.1073G>A (p.Ser358Asn)	PPP1R12B (S358N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579256	GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0	LOC120893173, LOC122149342 +6 more	Copy number loss	Congenital myopathy	GUncertain significance
Select item 3217410	NM_002481.4(PPP1R12B):c.1382T>A (p.Ile461Lys)	PPP1R12B (I461K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309320	NM_002481.4(PPP1R12B):c.1384A>T (p.Arg462Trp)	PPP1R12B (R462W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217411	NM_002481.4(PPP1R12B):c.1390C>G (p.Arg464Gly)	PPP1R12B (R464G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383469	NM_002481.4(PPP1R12B):c.1406A>G (p.Tyr469Cys)	PPP1R12B (Y469C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309316	NM_002481.4(PPP1R12B):c.1447A>G (p.Asn483Asp)	PPP1R12B (N483D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639788	NM_002481.4(PPP1R12B):c.1458+61A>G	PPP1R12B (I507V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 3217412	NM_002481.4(PPP1R12B):c.1489C>T (p.Leu497=)	PPP1R12B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2263744	NM_002481.4(PPP1R12B):c.1583G>A (p.Arg528Gln)	PPP1R12B (R528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639789	NM_002481.4(PPP1R12B):c.1646A>G (p.Tyr549Cys)	PPP1R12B (Y549C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3217413	NM_002481.4(PPP1R12B):c.1688C>A (p.Ala563Asp)	PPP1R12B (A563D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217414	NM_002481.4(PPP1R12B):c.1757G>A (p.Arg586His)	PPP1R12B (R586H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149392	GRCh38/hg38 1q32.1(chr1:202463130-202550476)x3	LOC120893173, LOC122149343 +1 more	Copy number gain	See cases	GLikely benign
Select item 2386384	NM_002481.4(PPP1R12B):c.1870C>T (p.Arg624Trp)	PPP1R12B (R624W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359958	NM_002481.4(PPP1R12B):c.1987C>T (p.Arg663Trp)	PPP1R12B (R724W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275245	NM_002481.4(PPP1R12B):c.2174C>T (p.Ala725Val)	PPP1R12B (A725V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240383	NM_002481.4(PPP1R12B):c.2195C>T (p.Thr732Met)	PPP1R12B (T732M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217416	NM_002481.4(PPP1R12B):c.2342A>T (p.Glu781Val)	PPP1R12B (E842V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467299	NM_002481.4(PPP1R12B):c.2414G>A (p.Arg805Gln)	PPP1R12B (R31Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217417	NM_002481.4(PPP1R12B):c.2428A>G (p.Ile810Val)	PPP1R12B (I36V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252078	NM_002481.4(PPP1R12B):c.2490+1G>T	PPP1R12B	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis	GUncertain significance
Select item 2291960	NM_002481.4(PPP1R12B):c.2521G>C (p.Gly841Arg)	PPP1R12B (G67R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309319	NM_002481.4(PPP1R12B):c.2549A>T (p.Tyr850Phe)	PPP1R12B (Y76F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590019	NM_002481.4(PPP1R12B):c.2575C>T (p.Arg859Cys)	PPP1R12B (R859C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370005	NM_002481.4(PPP1R12B):c.2587C>T (p.Arg863Trp)	PPP1R12B (R89W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569230	NM_002481.4(PPP1R12B):c.2588G>A (p.Arg863Gln)	PPP1R12B (R67Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320725	NM_002481.4(PPP1R12B):c.2596C>T (p.Arg866Cys)	PPP1R12B (R70C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519441	NM_002481.4(PPP1R12B):c.2617C>T (p.Arg873Cys)	PPP1R12B (R873C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309318	NM_002481.4(PPP1R12B):c.2627A>G (p.Glu876Gly)	PPP1R12B (E876G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217418	NM_002481.4(PPP1R12B):c.2712G>T (p.Gln904His)	PPP1R12B (Q904H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271711	NM_002481.4(PPP1R12B):c.2734T>C (p.Ser912Pro)	PPP1R12B (S116P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533394	NM_002481.4(PPP1R12B):c.2783G>A (p.Arg928Gln)	PPP1R12B (R132Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217419	NM_002481.4(PPP1R12B):c.2831G>A (p.Arg944His)	PPP1R12B (R170H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309323	NM_002481.4(PPP1R12B):c.2884G>A (p.Asp962Asn)	PPP1R12B (D1023N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3063110	GRCh37/hg19 1q32.1(chr1:202261387-202375150)x3	LGR6, PPP1R12B +1 more	Copy number gain	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565212	GRCh37/hg19 1q32.1(chr1:202407113-202727279)x1	PPP1R12B, SYT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 73