ClinVar for Gene (Select 9488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306472	NM_004855.5(PIGB):c.844C>G (p.Gln282Glu)	PIGB (Q282E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306471	NM_004855.5(PIGB):c.1132T>G (p.Leu378Val)	PIGB (L378V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243904	NC_000015.9:g.(?_55611449)_(55722997_?)del	CCPG1, DNAAF4 +2 more	Deletion	not provided	GLikely pathogenic
Select item 3243875	NC_000015.9:g.(?_55646976)_(55647630_?)del	CCPG1, PIGB	Deletion	not provided	GPathogenic
Select item 3243874	NC_000015.9:g.(?_55611449)_(55622072_?)del	PIGB	Deletion	not provided	GPathogenic
Select item 3243873	NC_000015.9:g.(?_55611449)_(55619853_?)del	PIGB	Deletion	not provided	GPathogenic
Select item 3243872	NC_000015.9:g.(?_55611449)_(55613608_?)del	PIGB	Deletion	not provided	GPathogenic
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 3212777	NM_004855.5(PIGB):c.346A>G (p.Thr116Ala)	PIGB (T116A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063389	GRCh37/hg19 15q21.3(chr15:55527872-55621439)x1	PIGB, RAB27A	Copy number loss	not specified	GUncertain significance
Select item 3012391	NM_004855.5(PIGB):c.1124-8T>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007061	NM_004855.5(PIGB):c.234G>A (p.Val78=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3000649	NM_004855.5(PIGB):c.1337+8A>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994874	NM_004855.5(PIGB):c.1058+17T>C	PIGB	Single nucleotide variant (intron 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 2993799	NM_004855.5(PIGB):c.1143G>C (p.Leu381=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993152	NM_004855.5(PIGB):c.1141C>T (p.Leu381=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992843	NM_004855.5(PIGB):c.812T>A (p.Leu271Ter)	PIGB (L271*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2992590	NM_004855.5(PIGB):c.18dup (p.Lys7fs)	LOC130057104, PIGB (K7fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2987209	NM_004855.5(PIGB):c.1518+12T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986640	NM_004855.5(PIGB):c.441A>G (p.Gln147=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983322	NM_004855.5(PIGB):c.1124-20A>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978331	NM_004855.5(PIGB):c.653+16G>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978213	NM_004855.5(PIGB):c.1059-18T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2961014	NM_004855.5(PIGB):c.456T>A (p.Ala152=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959793	NM_004855.5(PIGB):c.903A>G (p.Thr301=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956960	NM_004855.5(PIGB):c.1326T>G (p.Thr442=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902039	NM_004855.5(PIGB):c.144G>A (p.Lys48=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890709	NM_004855.5(PIGB):c.1407T>C (p.Tyr469=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888561	NM_004855.5(PIGB):c.1314T>C (p.Pro438=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885049	NM_004855.5(PIGB):c.552A>G (p.Thr184=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879652	NM_004855.5(PIGB):c.522+15C>T	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874430	NM_004855.5(PIGB):c.502C>T (p.Gln168Ter)	PIGB (Q168*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2874112	NM_004855.5(PIGB):c.523-6T>G	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869209	NM_004855.5(PIGB):c.318G>A (p.Trp106Ter)	PIGB (W106*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2866135	NM_004855.5(PIGB):c.1337+9del	PIGB	Deletion (intron variant)	not provided	GBenign
Select item 2864429	NM_004855.5(PIGB):c.681T>G (p.Leu227=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857080	NM_004855.5(PIGB):c.610G>A (p.Ala204Thr)	PIGB (A204T)	Single nucleotide variant (missense variant)	not provided	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 2853806	NM_004855.5(PIGB):c.17G>T (p.Ser6Ile)	LOC130057104, PIGB (S6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850389	NM_004855.5(PIGB):c.795-15A>G	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846427	NM_004855.5(PIGB):c.954T>A (p.Val318=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844028	NM_004855.5(PIGB):c.1479A>G (p.Ser493=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836676	NM_004855.5(PIGB):c.653+11T>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834196	NM_004855.5(PIGB):c.1644C>T (p.Phe548=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2833250	NM_004855.5(PIGB):c.1172del (p.Phe391fs)	PIGB (F391fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2825201	NM_004855.5(PIGB):c.1338-9_1338-5del	PIGB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2824035	NM_004855.5(PIGB):c.951A>C (p.Pro317=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816460	NM_004855.5(PIGB):c.1180T>C (p.Leu394=)	PIGB	Single nucleotide variant (synonymous 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 2813443	NM_004855.5(PIGB):c.222C>T (p.Asn74=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813181	NM_004855.5(PIGB):c.885G>A (p.Val295=)	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 2809845	NM_004855.5(PIGB):c.299+18T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807900	NM_004855.5(PIGB):c.1302T>C (p.Phe434=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807786	NM_004855.5(PIGB):c.795-13T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805031	NM_004855.5(PIGB):c.345C>T (p.Tyr115=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803187	NM_004855.5(PIGB):c.369C>T (p.Ser123=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799353	NM_004855.5(PIGB):c.984T>C (p.Ile328=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798316	NM_004855.5(PIGB):c.1518+12T>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797321	NM_004855.5(PIGB):c.303T>G (p.Tyr101Ter)	PIGB (Y101*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2797075	NM_004855.5(PIGB):c.1029G>T (p.Val343=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793455	NM_004855.5(PIGB):c.523-15T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2791057	NM_004855.5(PIGB):c.1024T>C (p.Leu342=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789822	NM_004855.5(PIGB):c.1425A>G (p.Val475=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786830	NM_004855.5(PIGB):c.1518+20A>G	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786242	NM_004855.5(PIGB):c.1338-19G>A	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782218	NM_004855.5(PIGB):c.853C>T (p.Leu285=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776210	NM_004855.5(PIGB):c.522+1G>T	PIGB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2769741	NM_004855.5(PIGB):c.1337+1G>A	PIGB	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2767507	NM_004855.5(PIGB):c.523-6T>C	PIGB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767386	NM_004855.5(PIGB):c.126C>T (p.Tyr42=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748385	NM_004855.5(PIGB):c.927C>T (p.His309=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745088	NM_004855.5(PIGB):c.639A>G (p.Ser213=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744822	NM_004855.5(PIGB):c.417+14_417+30del	PIGB	Deletion (intron variant)	not provided	GLikely benign
Select item 2727060	NM_004855.5(PIGB):c.741C>T (p.Phe247=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716626	NM_004855.5(PIGB):c.482del (p.Ser160_Leu161insTer)	PIGB	Deletion (nonsense)	not provided	GPathogenic
Select item 2715941	NM_004855.5(PIGB):c.663C>G (p.Tyr221Ter)	PIGB (Y221*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2710308	NM_004855.5(PIGB):c.1151G>A (p.Trp384Ter)	PIGB (W384*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2708094	NM_004855.5(PIGB):c.1533C>T (p.Phe511=)	CCPG1, DNAAF4-CCPG1 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2701838	NM_004855.5(PIGB):c.720A>G (p.Thr240=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691286	NM_004855.5(PIGB):c.-2G>T	PIGB	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 2671585	Single allele	PIGB, RAB27A	Deletion	not provided	GLikely pathogenic
Select item 2645364	NM_004855.5(PIGB):c.537G>A (p.Leu179=)	PIGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580204	NM_004855.5(PIGB):c.1334A>G (p.Tyr445Cys)	PIGB (Y445C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2547021	NM_004855.5(PIGB):c.1342G>A (p.Val448Ile)	PIGB (V448I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540934	NM_004855.5(PIGB):c.1238A>G (p.Asp413Gly)	PIGB (D413G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2533661	NM_004855.5(PIGB):c.1042A>G (p.Thr348Ala)	PIGB (T348A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529519	NM_004855.5(PIGB):c.1595G>A (p.Arg532Gln)	CCPG1, DNAAF4-CCPG1 +1 more (R532Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2496003	NM_004855.5(PIGB):c.322T>C (p.Trp108Arg)	PIGB (W108R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434836	NM_004855.5(PIGB):c.1594C>T (p.Arg532Ter)	CCPG1, DNAAF4-CCPG1 +1 more (R532*)	Single nucleotide variant (non-coding transcript variant +2 more)	Developmental and epileptic encephalopathy, 80	GUncertain significance
Select item 2434835	NM_004855.5(PIGB):c.643T>G (p.Ser215Ala)	PIGB (S215A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 80	GUncertain significance

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