PIGP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 146086	GRCh38/hg38 21q22.12-22.2(chr21:35543872-39993338)x1	B3GALT5, B3GALT5-AS1 +177 more	Copy number loss	See cases	GPathogenic
Select item 144137	GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1	CBR1, CBR1-AS1 +110 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 149278	GRCh38/hg38 21q22.13(chr21:37001929-37339004)x1	DSCR9, LOC111556145 +19 more	Copy number loss	See cases	GLikely benign
Select item 397552	NM_153682.3(PIGP):c.384del (p.Glu129fs)	PIGP (E103fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 55 +1 more	GPathogenic/Likely pathogenic
Select item 1559960	NM_153682.3(PIGP):c.381C>T (p.Ala127=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431817	NM_153682.3(PIGP):c.380C>T (p.Ala127Val)	PIGP (A101V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3306506	NM_153682.3(PIGP):c.376G>T (p.Ala126Ser)	PIGP (A126S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165486	NM_153682.3(PIGP):c.376G>C (p.Ala126Pro)	PIGP (A150P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713319	NM_153682.3(PIGP):c.369C>T (p.Phe123=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1366931	NM_153682.3(PIGP):c.361C>T (p.Gln121Ter)	PIGP (Q145* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1348297	NM_153682.3(PIGP):c.352G>C (p.Glu118Gln)	PIGP (E92Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2008040	NM_153682.3(PIGP):c.345T>C (p.Ser115=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173154	NM_153682.3(PIGP):c.343T>G (p.Ser115Ala)	PIGP (S139A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471039	NM_153682.3(PIGP):c.341T>C (p.Ile114Thr)	PIGP (I88T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1609322	NM_153682.3(PIGP):c.336A>C (p.Arg112Ser)	PIGP (R112S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1904355	NM_153682.3(PIGP):c.333A>T (p.Leu111Phe)	PIGP (L135F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1424654	NM_153682.3(PIGP):c.332T>G (p.Leu111Ter)	PIGP (L135* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 709520	NM_153682.3(PIGP):c.327A>C (p.Pro109=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2105495	NM_153682.3(PIGP):c.322A>T (p.Ile108Phe)	PIGP (I82F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1962003	NM_153682.3(PIGP):c.322A>G (p.Ile108Val)	PIGP (I108V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990017	NM_153682.3(PIGP):c.318G>A (p.Glu106=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900079	NM_153682.3(PIGP):c.309C>T (p.Tyr103=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388806	NM_153682.3(PIGP):c.308dup (p.Tyr103Ter)	PIGP (Y77* +2 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1908311	NM_153682.3(PIGP):c.307T>C (p.Tyr103His)	PIGP (Y103H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385959	NM_153682.3(PIGP):c.292C>T (p.Gln98Ter)	PIGP (Q122* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3020708	NM_153682.3(PIGP):c.291T>C (p.Asn97=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1519026	NM_153682.3(PIGP):c.290del (p.Asn97fs)	PIGP (N121fs +2 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 1519755	NM_153682.3(PIGP):c.284C>A (p.Ala95Glu)	PIGP (A69E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113371	NM_153682.3(PIGP):c.282T>C (p.Tyr94=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789860	NM_153682.3(PIGP):c.281A>G (p.Tyr94Cys)	PIGP (Y118C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1347145	NM_153682.3(PIGP):c.277A>G (p.Asn93Asp)	PIGP (N117D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839201	NM_153682.3(PIGP):c.275-4A>G	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695165	NM_153682.3(PIGP):c.275-6T>C	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814264	NM_153682.3(PIGP):c.275-7C>A	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814265	NM_153682.3(PIGP):c.275-13T>C	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994783	NM_153682.3(PIGP):c.275-14G>A	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814266	NM_153682.3(PIGP):c.275-15G>T	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560634	NM_153682.3(PIGP):c.275-20T>A	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2734980	NM_153682.3(PIGP):c.274+18G>C	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640571	NM_153682.3(PIGP):c.274+12del	PIGP	Deletion (intron variant)	not provided	GLikely benign
Select item 1642588	NM_153682.3(PIGP):c.274+11A>G	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970691	NM_153682.3(PIGP):c.274+9A>G	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651595	NM_153682.3(PIGP):c.274+8T>C	PIGP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581498	NM_153682.3(PIGP):c.264T>C (p.His88=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101297	NM_153682.3(PIGP):c.259A>T (p.Ile87Phe)	PIGP (I61F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183573	NM_153682.3(PIGP):c.253G>A (p.Asp85Asn)	PIGP (D59N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933215	NM_153682.3(PIGP):c.252C>T (p.Leu84=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000109	NM_153682.3(PIGP):c.243C>T (p.Thr81=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2025940	NM_153682.3(PIGP):c.243C>A (p.Thr81=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1412330	NM_153682.3(PIGP):c.239G>A (p.Ser80Asn)	PIGP (S104N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973242	NM_153682.3(PIGP):c.237G>A (p.Met79Ile)	PIGP (M103I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040890	NM_153682.3(PIGP):c.233T>C (p.Met78Thr)	PIGP (M52T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481910	NM_153682.3(PIGP):c.226A>T (p.Ile76Phe)	PIGP (I100F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1988593	NM_153682.3(PIGP):c.215T>C (p.Leu72Pro)	PIGP (L46P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1384815	NM_153682.3(PIGP):c.214C>T (p.Leu72Phe)	PIGP (L96F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377286	NM_153682.3(PIGP):c.211G>A (p.Val71Met)	PIGP (V71M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1579956	NM_153682.3(PIGP):c.210C>T (p.Tyr70=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367211	NM_153682.3(PIGP):c.199G>A (p.Val67Ile)	PIGP (V41I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431561	NM_153682.3(PIGP):c.197T>C (p.Ile66Thr)	PIGP (I66T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709521	NM_153682.3(PIGP):c.196A>G (p.Ile66Val)	PIGP (I40V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1636545	NM_153682.3(PIGP):c.189T>C (p.Leu63=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760219	NM_153682.3(PIGP):c.186C>T (p.Leu62=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970679	NM_153682.3(PIGP):c.182A>G (p.Tyr61Cys)	PIGP (Y61C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504548	NM_153682.3(PIGP):c.181T>C (p.Tyr61His)	PIGP (Y61H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669625	NM_153682.3(PIGP):c.180C>A (p.Val60=)	PIGP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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