"GeneDx"[submitter] AND "PIGG"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 60162	GRCh38/hg38 4p16.3(chr4:85149-634761)x1	LOC105374338, LOC126806939 +17 more	Copy number loss	See cases	GUncertain significance
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 145816	GRCh38/hg38 4p16.3(chr4:227660-570745)x3	LOC129991947, LOC129991948 +7 more	Copy number gain	See cases	GLikely benign
Select item 1273789	NC_000004.12:g.498959C>G	PIGG, ZNF721	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1342094	NC_000004.12:g.499005T>G	PIGG, ZNF721	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326544	NC_000004.12:g.499126T>C	PIGG, ZNF721	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1300670	NC_000004.12:g.499129T>C	ZNF721, PIGG	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1239959	NC_000004.12:g.499142G>A	PIGG, ZNF721	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1300317	NC_000004.12:g.499178C>T	PIGG	Single nucleotide variant	not provided	GLikely benign
Select item 772758	NM_001127178.3(PIGG):c.24C>G (p.Phe8Leu)	PIGG (F8L)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1700736	NM_001127178.3(PIGG):c.56G>A (p.Gly19Glu)	PIGG (G19E)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 652187	NM_001127178.3(PIGG):c.121G>A (p.Gly41Arg)	PIGG (G41R)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 1300822	NM_001127178.3(PIGG):c.155-139A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376911	NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp)	PIGG (A53D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 445328	NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr)	PIGG (S55Y)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 1405466	NM_001127178.3(PIGG):c.220G>C (p.Asp74His)	PIGG (D74H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 280494	NM_001127178.3(PIGG):c.342dup (p.Thr115fs)	PIGG (T26fs +1 more)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1704052	NM_001127178.3(PIGG):c.347T>G (p.Met116Arg)	PIGG (M116R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1301135	NM_001127178.3(PIGG):c.360+44T>C	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300503	NM_001127178.3(PIGG):c.360+268A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281300	NM_001127178.3(PIGG):c.361-232A>T	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277205	NM_001127178.3(PIGG):c.361-71_361-69dup	PIGG	Duplication (intron variant)	not provided	GBenign
Select item 1261982	NM_001127178.3(PIGG):c.361-69dup	PIGG	Duplication (intron variant)	not provided	GBenign
Select item 1257091	NM_001127178.3(PIGG):c.361-70_361-69dup	PIGG	Duplication (intron variant)	not provided	GBenign
Select item 1300495	NM_001127178.3(PIGG):c.361-69del	PIGG	Deletion (intron variant)	not provided	GLikely benign
Select item 1233734	NM_001127178.3(PIGG):c.361-68T>A	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343055	NM_001127178.3(PIGG):c.374G>T (p.Gly125Val)	PIGG (G125V +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3373708	NM_001127178.3(PIGG):c.466A>G (p.Lys156Glu)	PIGG (K156E +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3373716	NM_001127178.3(PIGG):c.542C>T (p.Thr181Ile)	PIGG (T181I +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1314935	NM_001127178.3(PIGG):c.571-164A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1304731	NM_001127178.3(PIGG):c.587C>T (p.Thr196Met)	PIGG (T107M +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3343054	NM_001127178.3(PIGG):c.668A>G (p.His223Arg)	PIGG (H101R +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1454110	NM_001127178.3(PIGG):c.678G>T (p.Gly226=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GConflicting classifications of pathogenicity
Select item 575404	NM_001127178.3(PIGG):c.712G>A (p.Glu238Lys)	PIGG (E238K +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 476351	NM_001127178.3(PIGG):c.724G>A (p.Val242Met)	PIGG (V242M +2 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +2 more	GConflicting classifications of pathogenicity
Select item 476352	NM_001127178.3(PIGG):c.750G>A (p.Leu250=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GLikely benign
Select item 445879	NM_001127178.3(PIGG):c.759+16G>A	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 1300370	NM_001127178.3(PIGG):c.759+64del	PIGG	Deletion (intron variant)	not provided	GLikely benign
Select item 1234816	NM_001127178.3(PIGG):c.759+91C>A	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300954	NM_001127178.3(PIGG):c.759+278C>T	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 542902	NM_001127178.3(PIGG):c.771G>A (p.Thr257=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 664689	NM_001127178.3(PIGG):c.832G>A (p.Gly278Arg)	PIGG (G156R +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 837646	NM_001127178.3(PIGG):c.860C>T (p.Thr287Ile)	PIGG (T165I +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GUncertain significance
Select item 766941	NM_001127178.3(PIGG):c.864T>A (p.Pro288=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 476354	NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser)	PIGG (A295S +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 476355	NM_001127178.3(PIGG):c.885G>A (p.Ala295=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GLikely benign
Select item 1453486	NM_001127178.3(PIGG):c.901+1del	PIGG	Deletion (splice donor variant +1 more)	not provided +1 more	GPathogenic
Select item 1247027	NM_001127178.3(PIGG):c.901+152T>C	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 807654	NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)	PIGG (R215* +3 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 1690460	NM_001127178.3(PIGG):c.956C>T (p.Ala319Val)	PIGG (A186V +3 more)	Single nucleotide variant (missense variant +2 more)	See cases +3 more	GUncertain significance
Select item 1195745	NM_001127178.3(PIGG):c.974C>T (p.Pro325Leu)	PIGG (P192L +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 476358	NM_001127178.3(PIGG):c.990T>C (p.Ser330=)	PIGG	Single nucleotide variant (synonymous variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 542899	NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn)	PIGG (S333N +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GConflicting classifications of pathogenicity
Select item 1700737	NM_001127178.3(PIGG):c.1016T>G (p.Val339Gly)	PIGG (V206G +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 476312	NM_001127178.3(PIGG):c.1114+8A>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 445675	NM_001127178.3(PIGG):c.1114+9A>G	PIGG	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely benign
Select item 1668316	NM_001127178.3(PIGG):c.1114+15C>T	PIGG	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1300838	NM_001127178.3(PIGG):c.1114+226C>G	PIGG	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1301098	NM_001127178.3(PIGG):c.1115-245G>A	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178519	NM_001127178.3(PIGG):c.1115-243A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256767	NM_001127178.3(PIGG):c.1115-220C>T	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263511	NM_001127178.3(PIGG):c.1115-216A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300366	NM_001127178.3(PIGG):c.1115-174A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1301078	NM_001127178.3(PIGG):c.1115-151C>G	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 620287	NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter)	PIGG (W388* +5 more)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GPathogenic
Select item 542879	NM_001127178.3(PIGG):c.1183G>A (p.Glu395Lys)	PIGG (E395K +5 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 855118	NM_001127178.3(PIGG):c.1207A>G (p.Asn403Asp)	PIGG (N314D +5 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 1214420	NM_001127178.3(PIGG):c.1210del (p.Leu404fs)	PIGG (L271fs +5 more)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 1429425	NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter)	PIGG (Q68* +5 more)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GPathogenic/Likely pathogenic
Select item 476314	NM_001127178.3(PIGG):c.1254G>A (p.Thr418=)	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign/Likely 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 +1 more	GPathogenic/Likely pathogenic
Select item 1301099	NM_001127178.3(PIGG):c.1332+134G>A	PIGG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225604	NM_001127178.3(PIGG):c.1332+181A>G	PIGG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 572574	NM_001127178.3(PIGG):c.1370T>C (p.Leu457Pro)	PIGG (L457P +7 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 649764	NM_001127178.3(PIGG):c.1372C>T (p.Arg458Cys)	PIGG (R458C +7 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 1170159	NM_001127178.3(PIGG):c.1373G>A (p.Arg458His)	PIGG (A321T +7 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GBenign
Select item 476316	NM_001127178.3(PIGG):c.1387C>G (p.Leu463Val)	PIGG (L463V +7 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GLikely benign
Select item 542882	NM_001127178.3(PIGG):c.1418C>T (p.Ser473Phe)	PIGG (S473F +7 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 476317	NM_001127178.3(PIGG):c.1451C>T (p.Ser484Leu)	PIGG (S484L +6 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +3 more	GLikely benign
Select item 953327	NM_001127178.3(PIGG):c.1456G>A (p.Val486Ile)	PIGG (V397I +6 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GUncertain significance
Select item 1314813	NM_001127178.3(PIGG):c.1521_1544del (p.Ala508_Ala515del)	PIGG	Deletion (inframe_deletion +3 more)	not provided	GUncertain significance
Select item 476318	NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)	PIGG (W505* +6 more)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal recessive 53 +3 more	GConflicting classifications of pathogenicity
Select item 476319	NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val)	PIGG (A507V +6 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign/Likely benign
Select item 843061	NM_001127178.3(PIGG):c.1547C>T (p.Ser516Leu)	PIGG (S173L +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +2 more	GUncertain significance
Select item 772031	NM_001127178.3(PIGG):c.1561G>A (p.Val521Met)	PIGG (V178M +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +1 more	GLikely benign
Select item 817494	NM_001127178.3(PIGG):c.1579_1580delinsG (p.Thr527fs)	PIGG (T184fs +7 more)	Indel (frameshift variant +2 more)	not provided	GPathogenic
Select item 1035232	NM_001127178.3(PIGG):c.1585G>A (p.Val529Met)	PIGG (V396M +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 53 +2 more	GConflicting classifications of pathogenicity
Select item 846047	NM_001127178.3(PIGG):c.1614+6T>G	PIGG	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 53 +1 more	GConflicting classifications of pathogenicity
Select item 1301127	NM_001127178.3(PIGG):c.1614+311C>A	PIGG	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign

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