PIGB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 58571	GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3	CCPG1, DNAAF4 +23 more	Copy number gain	See cases	GPathogenic
Select item 1327019	NM_004855.5(PIGB):c.-16A>G	PIGB	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 2691286	NM_004855.5(PIGB):c.-2G>T	PIGB	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2078790	NM_004855.5(PIGB):c.8G>A (p.Arg3Lys)	LOC130057104, PIGB (R3K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991731	NM_004855.5(PIGB):c.9G>A (p.Arg3=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2062947	NM_004855.5(PIGB):c.10C>T (p.Pro4Ser)	LOC130057104, PIGB (P4S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1922974	NM_004855.5(PIGB):c.10C>G (p.Pro4Ala)	LOC130057104, PIGB (P4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792079	NM_004855.5(PIGB):c.13C>T (p.Leu5=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992590	NM_004855.5(PIGB):c.18dup (p.Lys7fs)	LOC130057104, PIGB (K7fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2853806	NM_004855.5(PIGB):c.17G>T (p.Ser6Ile)	LOC130057104, PIGB (S6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916968	NM_004855.5(PIGB):c.24C>T (p.Cys8=)	LOC130057104, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504134	NM_004855.5(PIGB):c.25G>A (p.Gly9Arg)	LOC130057104, PIGB (G9R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2853850	NM_004855.5(PIGB):c.37G>A (p.Gly13Arg)	LOC130057104, PIGB (G13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982744	NM_004855.5(PIGB):c.38G>A (p.Gly13Glu)	LOC130057104, PIGB (G13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958436	NM_004855.5(PIGB):c.38G>C (p.Gly13Ala)	LOC130057104, PIGB (G13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116577	NM_004855.5(PIGB):c.40G>A (p.Gly14Ser)	LOC130057104, PIGB (G14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2089629	NM_004855.5(PIGB):c.53G>A (p.Ser18Asn)	LOC130057104, PIGB (S18N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196383	NM_004855.5(PIGB):c.58A>G (p.Thr20Ala)	LOC130057104, PIGB (T20A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1958739	NM_004855.5(PIGB):c.71T>A (p.Leu24His)	LOC130057104, PIGB (L24H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098872	NM_004855.5(PIGB):c.73C>T (p.Gln25Ter)	LOC130057104, PIGB (Q25*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2135505	NM_004855.5(PIGB):c.87C>A (p.His29Gln)	PIGB (H29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3212778	NM_004855.5(PIGB):c.88G>C (p.Gly30Arg)	PIGB (G30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2100570	NM_004855.5(PIGB):c.88G>A (p.Gly30Ser)	PIGB (G30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694752	NM_004855.5(PIGB):c.89G>C (p.Gly30Ala)	PIGB (G30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943029	NM_004855.5(PIGB):c.91A>T (p.Lys31Ter)	PIGB (K31*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1912677	NM_004855.5(PIGB):c.97A>G (p.Lys33Glu)	PIGB (K33E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102408	NM_004855.5(PIGB):c.110G>A (p.Arg37Lys)	PIGB (R37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107996	NM_004855.5(PIGB):c.113A>C (p.Lys38Thr)	PIGB (K38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955057	NM_004855.5(PIGB):c.123G>C (p.Leu41Phe)	PIGB (L41F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767386	NM_004855.5(PIGB):c.126C>T (p.Tyr42=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994001	NM_004855.5(PIGB):c.135C>T (p.Thr45=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357121	NM_004855.5(PIGB):c.139G>A (p.Glu47Lys)	PIGB (E47K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106440	NM_004855.5(PIGB):c.140A>G (p.Glu47Gly)	PIGB (E47G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902039	NM_004855.5(PIGB):c.144G>A (p.Lys48=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599716	NM_004855.5(PIGB):c.155G>A (p.Arg52His)	LOC130057105, PIGB (R52H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2968289	NM_004855.5(PIGB):c.158G>A (p.Arg53His)	LOC130057105, PIGB (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003078	NM_004855.5(PIGB):c.159C>T (p.Arg53=)	LOC130057105, PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050320	NM_004855.5(PIGB):c.161G>A (p.Gly54Glu)	LOC130057105, PIGB (G54E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177615	NM_004855.5(PIGB):c.163+3G>A	LOC130057105, PIGB	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1981196	NM_004855.5(PIGB):c.163+6T>C	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1634196	NM_004855.5(PIGB):c.163+12G>C	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903419	NM_004855.5(PIGB):c.163+14C>T	LOC130057105, PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978117	NM_004855.5(PIGB):c.164-19G>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015532	NM_004855.5(PIGB):c.165T>C (p.Asp55=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1592016	NM_004855.5(PIGB):c.187C>T (p.Leu63=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2060934	NM_004855.5(PIGB):c.202A>T (p.Ile68Leu)	PIGB (I68L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689514	NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)	PIGB (R71Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GPathogenic
Select item 2813443	NM_004855.5(PIGB):c.222C>T (p.Asn74=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988608	NM_004855.5(PIGB):c.225C>A (p.Cys75Ter)	PIGB (C75*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 3007061	NM_004855.5(PIGB):c.234G>A (p.Val78=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974146	NM_004855.5(PIGB):c.277G>A (p.Val93Ile)	PIGB (V93I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2196523	NM_004855.5(PIGB):c.282A>G (p.Ser94=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810729	NM_004855.5(PIGB):c.284A>G (p.His95Arg)	PIGB (H95R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154784	NM_004855.5(PIGB):c.299A>C (p.Asn100Thr)	PIGB (N100T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151286	NM_004855.5(PIGB):c.299A>G (p.Asn100Ser)	PIGB (N100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937941	NM_004855.5(PIGB):c.299+1A>G	PIGB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2022320	NM_004855.5(PIGB):c.299+13G>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809845	NM_004855.5(PIGB):c.299+18T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030337	NM_004855.5(PIGB):c.299+20_299+21insGT	PIGB	Insertion (intron variant)	not provided	GLikely benign
Select item 2816265	NM_004855.5(PIGB):c.300-20T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035977	NM_004855.5(PIGB):c.300-13T>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942414	NM_004855.5(PIGB):c.300-8G>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988561	NM_004855.5(PIGB):c.300-1A>G	PIGB	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2797321	NM_004855.5(PIGB):c.303T>G (p.Tyr101Ter)	PIGB (Y101*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1914343	NM_004855.5(PIGB):c.303T>C (p.Tyr101=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103314	NM_004855.5(PIGB):c.304G>A (p.Gly102Ser)	PIGB (G102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2869209	NM_004855.5(PIGB):c.318G>A (p.Trp106Ter)	PIGB (W106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2496003	NM_004855.5(PIGB):c.322T>C (p.Trp108Arg)	PIGB (W108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434833	NM_004855.5(PIGB):c.334C>G (p.Leu112Val)	PIGB (L112V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2805031	NM_004855.5(PIGB):c.345C>T (p.Tyr115=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212777	NM_004855.5(PIGB):c.346A>G (p.Thr116Ala)	PIGB (T116A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2803187	NM_004855.5(PIGB):c.369C>T (p.Ser123=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986325	NM_004855.5(PIGB):c.370A>T (p.Ile124Phe)	PIGB (I124F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2017292	NM_004855.5(PIGB):c.388C>T (p.Leu130Phe)	PIGB (L130F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178592	NM_004855.5(PIGB):c.391T>C (p.Leu131=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976714	NM_004855.5(PIGB):c.392T>G (p.Leu131Ter)	PIGB (L131*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 80 +1 more	GPathogenic
Select item 2160030	NM_004855.5(PIGB):c.405T>C (p.Ser135=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968336	NM_004855.5(PIGB):c.417+6T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2744822	NM_004855.5(PIGB):c.417+14_417+30del	PIGB	Deletion (intron variant)	not provided	GLikely benign
Select item 1628443	NM_004855.5(PIGB):c.417+14A>G	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931604	NM_004855.5(PIGB):c.418-13T>A	PIGB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2194458	NM_004855.5(PIGB):c.418-5T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554728	NM_004855.5(PIGB):c.418-4G>A	PIGB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1381342	NM_004855.5(PIGB):c.421T>C (p.Trp141Arg)	PIGB (W141R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2986640	NM_004855.5(PIGB):c.441A>G (p.Gln147=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974413	NM_004855.5(PIGB):c.448C>A (p.Leu150Met)	PIGB (L150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567121	NM_004855.5(PIGB):c.448C>T (p.Leu150=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666650	NM_004855.5(PIGB):c.453T>C (p.Ser151=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2961014	NM_004855.5(PIGB):c.456T>A (p.Ala152=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995863	NM_004855.5(PIGB):c.463G>C (p.Asp155His)	PIGB (D155H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GLikely pathogenic
Select item 2716626	NM_004855.5(PIGB):c.482del (p.Ser160_Leu161insTer)	PIGB	Deletion (nonsense)	not provided	GPathogenic
Select item 1585299	NM_004855.5(PIGB):c.485T>C (p.Met162Thr)	PIGB (M162T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1964730	NM_004855.5(PIGB):c.487A>G (p.Lys163Glu)	PIGB (K163E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536980	NM_004855.5(PIGB):c.488A>G (p.Lys163Arg)	PIGB (K163R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2071077	NM_004855.5(PIGB):c.497A>G (p.Glu166Gly)	PIGB (E166G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2874430	NM_004855.5(PIGB):c.502C>T (p.Gln168Ter)	PIGB (Q168*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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