ClinVar for Gene (Select 54872) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212797	NM_001127178.3(PIGG):c.841T>C (p.Ser281Pro)	PIGG (S192P +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3212796	NM_001127178.3(PIGG):c.5G>A (p.Arg2Gln)	PIGG (R2Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3212794	NM_001127178.3(PIGG):c.2908G>A (p.Val970Ile)	PIGG (V627I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212793	NM_001127178.3(PIGG):c.2599G>T (p.Asp867Tyr)	PIGG (D524Y +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212792	NM_001127178.3(PIGG):c.22T>C (p.Phe8Leu)	PIGG (F8L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3212791	NM_001127178.3(PIGG):c.1959G>A (p.Met653Ile)	PIGG (M142I +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212789	NM_001127178.3(PIGG):c.1617C>G (p.Asn539Lys)	PIGG (N173K +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212787	NM_001127178.3(PIGG):c.1357G>A (p.Val453Ile)	PIGG (V110I +7 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 3212786	NM_001127178.3(PIGG):c.1099C>T (p.Pro367Ser)	PIGG (P234S +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3066082	NM_001127178.3(PIGG):c.1328del (p.Leu443fs)	PIGG (L100fs +3 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3034096	NM_001127178.3(PIGG):c.1614+184T>C	PIGG (V584A)	Single nucleotide variant (3 prime UTR variant +3 more)	PIGG-related condition	GLikely benign
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	USP17L10, USP17L11 +117 more	Copy number loss	not provided	GPathogenic
Select item 3017780	NM_001127178.3(PIGG):c.2330T>G (p.Leu777Ter)	PIGG (L434* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 3016566	NM_001127178.3(PIGG):c.1333-7_1333-6del	PIGG	Deletion (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 3014549	NM_001127178.3(PIGG):c.1115-14dup	PIGG	Duplication (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 3013683	NM_001127178.3(PIGG):c.784T>C (p.Leu262=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 3012409	NM_001127178.3(PIGG):c.1332+15A>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 3011446	NM_001127178.3(PIGG):c.2199C>T (p.Cys733=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2996570	NM_001127178.3(PIGG):c.759+7C>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2978365	NM_001127178.3(PIGG):c.1752C>G (p.Thr584=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2977242	NM_001127178.3(PIGG):c.924C>T (p.His308=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2971179	NM_001127178.3(PIGG):c.931C>T (p.Gln311Ter)	PIGG (Q189* +3 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2970276	NM_001127178.3(PIGG):c.105T>C (p.Ser35=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2970142	NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)	PIGG (Q296fs +5 more)	Duplication (frameshift variant +3 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2969356	NM_001127178.3(PIGG):c.225C>T (p.Ala75=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2968915	NM_001127178.3(PIGG):c.2343A>G (p.Gln781=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2967926	NM_001127178.3(PIGG):c.102C>A (p.Ser34=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2958329	NM_001127178.3(PIGG):c.927C>T (p.Val309=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2956989	NM_001127178.3(PIGG):c.1347C>T (p.Leu449=)	PIGG (S312F +1 more)	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2919339	NM_001127178.3(PIGG):c.2202C>T (p.Tyr734=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2916588	NM_001127178.3(PIGG):c.1947C>T (p.Arg649=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2913758	NM_001127178.3(PIGG):c.1269G>C (p.Leu423=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2912329	NM_001127178.3(PIGG):c.534T>C (p.Asp178=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2912048	NM_001127178.3(PIGG):c.2261+20G>A	PIGG	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2903121	NM_001127178.3(PIGG):c.1530G>A (p.Gly510=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2894854	NM_001127178.3(PIGG):c.1114+20C>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2894062	NM_001127178.3(PIGG):c.36C>T (p.Cys12=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2886114	NM_001127178.3(PIGG):c.1455C>T (p.Ala485=)	PIGG	Single nucleotide variant (non-coding transcript variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2883102	NM_001127178.3(PIGG):c.155-9_155-6del	PIGG	Deletion (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2881673	NM_001127178.3(PIGG):c.918A>G (p.Pro306=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2881348	NM_001127178.3(PIGG):c.1080A>G (p.Lys360=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2880398	NM_001127178.3(PIGG):c.2586C>T (p.Asn862=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2878500	NM_001127178.3(PIGG):c.2760del (p.Phe921fs)	PIGG (F555fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2871583	NM_001127178.3(PIGG):c.2691G>T (p.Leu897=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2871376	NM_001127178.3(PIGG):c.1897C>T (p.Arg633Ter)	PIGG (R290* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2869461	NM_001127178.3(PIGG):c.1333-7G>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2861858	NM_001127178.3(PIGG):c.1833G>A (p.Val611=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2859826	NM_001127178.3(PIGG):c.1641G>A (p.Trp547Ter)	PIGG (W414* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2858620	NM_001127178.3(PIGG):c.2070-10C>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2853914	NM_001127178.3(PIGG):c.901+19T>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2842521	NM_001127178.3(PIGG):c.318G>A (p.Val106=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2840837	NM_001127178.3(PIGG):c.2793T>C (p.Val931=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2832559	NM_001127178.3(PIGG):c.2367C>G (p.Leu789=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2824790	NM_001127178.3(PIGG):c.1736_1758del (p.Tyr579fs)	PIGG (Y236fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2822628	NM_001127178.3(PIGG):c.2069+2T>G	PIGG	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 53	GLikely pathogenic
Select item 2817986	NM_001127178.3(PIGG):c.155-19T>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2809245	NM_001127178.3(PIGG):c.2703C>T (p.His901=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2808880	NM_001127178.3(PIGG):c.411C>T (p.Leu137=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2808040	NM_001127178.3(PIGG):c.1177T>C (p.Leu393=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2806358	NM_001127178.3(PIGG):c.489T>C (p.Asp163=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2803212	NM_001127178.3(PIGG):c.690C>T (p.Pro230=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2803201	NM_001127178.3(PIGG):c.154+13C>T	PIGG	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2797871	NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)	PIGG (E256* +3 more)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2794265	NM_001127178.3(PIGG):c.902-14T>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2793673	NM_001127178.3(PIGG):c.901+16T>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2784633	NM_001127178.3(PIGG):c.1824_1834del (p.Leu609fs)	PIGG (L601fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2783563	NM_001127178.3(PIGG):c.711C>T (p.Ser237=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2782095	NM_001127178.3(PIGG):c.1686C>T (p.Val562=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2772396	NM_001127178.3(PIGG):c.801del (p.Asp268fs)	PIGG (D179fs +3 more)	Deletion (frameshift variant +3 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2770908	NM_001127178.3(PIGG):c.2069+16C>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2769730	NM_001127178.3(PIGG):c.861A>G (p.Thr287=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2769725	NM_001127178.3(PIGG):c.759+15C>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2767325	NM_001127178.3(PIGG):c.2262-9_2262-7del	PIGG	Deletion (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2766602	NM_001127178.3(PIGG):c.2418C>T (p.Ala806=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2766601	NM_001127178.3(PIGG):c.510C>T (p.Phe170=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2766056	NM_001127178.3(PIGG):c.681C>T (p.Pro227=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2760226	NM_001127178.3(PIGG):c.2572-20G>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2760206	NM_001127178.3(PIGG):c.2735+11T>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2758318	NM_001127178.3(PIGG):c.2103T>A (p.Ala701=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2756301	NM_001127178.3(PIGG):c.154+2T>C	PIGG	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely pathogenic
Select item 2754510	NM_001127178.3(PIGG):c.1811_1812del (p.Glu604fs)	PIGG (E471fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2753431	NM_001127178.3(PIGG):c.1333-1G>A	PIGG	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal recessive 53	GLikely pathogenic
Select item 2752209	NM_001127178.3(PIGG):c.2332del (p.Lys779fs)	PIGG (K268fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 53	GPathogenic
Select item 2750735	NM_001127178.3(PIGG):c.2452G>C (p.Ala818Pro)	PIGG (A307P +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 53	GUncertain significance
Select item 2749280	NM_001127178.3(PIGG):c.759+16G>T	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2746597	NM_001127178.3(PIGG):c.2157G>C (p.Val719=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2740601	NM_001127178.3(PIGG):c.2370G>A (p.Lys790=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2737261	NM_001127178.3(PIGG):c.1663C>T (p.Leu555=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2732165	NM_001127178.3(PIGG):c.2011C>T (p.Leu671=)	PIGG	Single nucleotide variant (synonymous variant +1 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2726712	NM_001127178.3(PIGG):c.760-15T>C	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2724467	NM_001127178.3(PIGG):c.1365G>A (p.Gln455=)	PIGG (R318K +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Intellectual disability, autosomal recessive 53	GLikely benign
Select item 2718060	NM_001127178.3(PIGG):c.1386G>A (p.Glu462=)	PIGG (S325N)	Single nucleotide variant (synonymous variant +4 more)	Intellectual disability, autosomal recessive 53	GLikely benign

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