"GeneDx"[submitter] AND "PIGQ"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 1164853	NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala)	PIGQ (T14A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 526274	NM_004204.5(PIGQ):c.91G>A (p.Val31Met)	PIGQ (V31M)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 77 +3 more	GUncertain significance
Select item 1041437	NM_004204.5(PIGQ):c.148G>T (p.Ala50Ser)	PIGQ (A50S)	Single nucleotide variant (missense variant)	Epilepsy +2 more	GUncertain significance
Select item 1305788	NM_004204.5(PIGQ):c.190G>A (p.Gly64Ser)	PIGQ (G64S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311156	NM_004204.5(PIGQ):c.376G>A (p.Val126Ile)	PIGQ (V126I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1358699	NM_004204.5(PIGQ):c.481G>T (p.Gly161Cys)	PIGQ (G161C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 843815	NM_004204.5(PIGQ):c.512G>A (p.Arg171His)	PIGQ (R171H)	Single nucleotide variant (missense variant)	Epilepsy +2 more	GUncertain significance
Select item 641628	NM_004204.5(PIGQ):c.604G>A (p.Ala202Thr)	PIGQ (A202T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1164854	NM_004204.5(PIGQ):c.639C>T (p.Cys213=)	PIGQ	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1306372	NM_004204.5(PIGQ):c.682G>C (p.Ala228Pro)	PIGQ (A228P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1228620	NM_004204.5(PIGQ):c.690-169C>T	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 456055	NM_004204.5(PIGQ):c.915G>C (p.Leu305=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy +1 more	GBenign
Select item 453003	NM_004204.5(PIGQ):c.942+1G>A	PIGQ	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3372272	NM_004204.5(PIGQ):c.942+3G>C	PIGQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1185511	NM_004204.5(PIGQ):c.942+92A>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1233747	NM_004204.5(PIGQ):c.943-249A>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185512	NM_004204.5(PIGQ):c.943-77A>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1314074	NM_004204.5(PIGQ):c.1036C>G (p.Arg346Gly)	PIGQ (R346G)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GUncertain significance
Select item 1381208	NM_004204.5(PIGQ):c.1088C>A (p.Ser363Tyr)	PIGQ (S363Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708629	NM_004204.5(PIGQ):c.1184T>A (p.Leu395His)	PIGQ (L395H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449630	NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del)	PIGQ (Y400del)	Deletion (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1185513	NM_004204.5(PIGQ):c.1224-63C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1285714	NM_004204.5(PIGQ):c.1335+267_1335+338del	PIGQ	Deletion (intron variant)	not provided	GBenign
Select item 1260449	NM_004204.5(PIGQ):c.1335+265C>T	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266322	NM_004204.5(PIGQ):c.1335+267A>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272361	NM_004204.5(PIGQ):c.1335+278_1335+349del	PIGQ	Deletion (intron variant)	not provided	GBenign
Select item 1268936	NM_004204.5(PIGQ):c.1335+278A>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220814	NM_004204.5(PIGQ):c.1336-158C>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185514	NM_004204.5(PIGQ):c.1336-94C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 587445	NM_004204.5(PIGQ):c.1345G>A (p.Gly449Arg)	PIGQ (G449R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185515	NM_004204.5(PIGQ):c.1416+104C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185516	NM_004204.5(PIGQ):c.1416+142T>G	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1281528	NM_004204.5(PIGQ):c.1417-193G>A	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221884	NM_004204.5(PIGQ):c.1417-148A>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164855	NM_004204.5(PIGQ):c.1461C>G (p.Leu487=)	PIGQ	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 718059	NM_004204.5(PIGQ):c.1501C>T (p.Leu501Phe)	PIGQ (L501F)	Single nucleotide variant (missense variant)	Epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1257172	NM_004204.5(PIGQ):c.1532-237C>T	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223258	NM_004204.5(PIGQ):c.1532-197T>C	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221473	NM_004204.5(PIGQ):c.1532-175C>T	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185517	NM_004204.5(PIGQ):c.1532-133G>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +1 more	GBenign
Select item 1185518	NM_004204.5(PIGQ):c.1532-110C>T	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185567	NM_004204.5(PIGQ):c.1532-68G>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1185304	NM_004204.5(PIGQ):c.1532-50T>A	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1250642	NM_004204.5(PIGQ):c.1532-24G>A	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185305	NM_004204.5(PIGQ):c.1532-23T>C	PIGQ	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 1164856	NM_004204.5(PIGQ):c.1532-17del	PIGQ	Deletion (intron variant)	not specified +3 more	GBenign
Select item 1164857	NM_004204.5(PIGQ):c.1532-15T>C	PIGQ	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 659666	NM_004204.5(PIGQ):c.1546C>T (p.Arg516Cys)	PIGQ (R516C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1164858	NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser)	PIGQ (G523S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 77 +2 more	GBenign
Select item 426220	NM_004204.5(PIGQ):c.1592A>C (p.Gln531Pro)	PIGQ (Q531P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1278920	NM_004204.5(PIGQ):c.1594-184C>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258851	NM_004204.5(PIGQ):c.1594-155T>C	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179494	NM_004204.5(PIGQ):c.1594-147T>C	PIGQ	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286263	NM_004204.5(PIGQ):c.1594-116A>G	PIGQ	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 659445	NM_004204.5(PIGQ):c.1628C>T (p.Thr543Ile)	PIGQ (T543I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1265550	NM_004204.5(PIGQ):c.*90T>C	PIGQ (C592R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1277846	NM_004204.5(PIGQ):c.*318T>C	PIGQ (C668R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1226575	NM_004204.5(PIGQ):c.*319G>A	PIGQ (C668Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1241226	NM_004204.5(PIGQ):c.*671C>T	PIGQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1238207	NM_004204.5(PIGQ):c.*729G>A	PIGQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1260398	NM_004204.5(PIGQ):c.*808A>G	PIGQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1246708	NM_004204.5(PIGQ):c.*816T>C	PIGQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282515	NM_004204.5(PIGQ):c.*899C>T	PIGQ	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253755	GRCh37/hg19 16p13.3(chr16:450686-1007236)x3	MSLN, PRR35 +27 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71