PIGN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC130062750, LOC130062751 +430 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 more	Copy number loss	See cases	GPathogenic
Select item 1224902	NM_176787.5(PIGN):c.*178dup	PIGN	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1203448	NM_176787.5(PIGN):c.*125A>G	PIGN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 648516	NC_000018.9:g.(?_59713069)_(60131307_?)dup	LOC132090497, LOC130062628 +16 more	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 472229	NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn)	PIGN (S928N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2040490	NM_176787.5(PIGN):c.2776C>A (p.Pro926Thr)	PIGN (P926T)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1509123	NM_176787.5(PIGN):c.2771del (p.Gly924fs)	PIGN (G924fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2270101	NM_176787.5(PIGN):c.2770G>A (p.Gly924Ser)	PIGN (G924S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 859862	NM_176787.5(PIGN):c.2768G>C (p.Cys923Ser)	PIGN (C923S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 2114893	NM_176787.5(PIGN):c.2766A>G (p.Leu922=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2090978	NM_176787.5(PIGN):c.2764C>T (p.Leu922=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2762314	NM_176787.5(PIGN):c.2763A>G (p.Arg921=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 948007	NM_176787.5(PIGN):c.2761dup (p.Arg921fs)	PIGN (R921fs)	Duplication (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1795573	NM_176787.5(PIGN):c.2751G>A (p.Thr917=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 472228	NM_176787.5(PIGN):c.2751G>T (p.Thr917=)	PIGN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 586231	NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)	PIGN (T917M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1046650	NM_176787.5(PIGN):c.2747C>T (p.Thr916Ile)	PIGN (T916I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 946479	NM_176787.5(PIGN):c.2746A>G (p.Thr916Ala)	PIGN (T916A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 472227	NM_176787.5(PIGN):c.2745C>G (p.Leu915=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2801929	NM_176787.5(PIGN):c.2742G>T (p.Leu914=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 589510	NM_176787.5(PIGN):c.2740C>T (p.Leu914=)	PIGN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2434843	NM_176787.5(PIGN):c.2737C>T (p.Gln913Ter)	PIGN (Q913*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2648774	NM_176787.5(PIGN):c.2736C>G (p.Ala912=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 2118245	NM_176787.5(PIGN):c.2736C>T (p.Ala912=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 737088	NM_176787.5(PIGN):c.2733G>C (p.Leu911=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 2797814	NM_176787.5(PIGN):c.2730C>T (p.Gly910=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 737665	NM_176787.5(PIGN):c.2724C>T (p.Leu908=)	PIGN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2798250	NM_176787.5(PIGN):c.2721C>T (p.Phe907=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1387855	NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu)	PIGN (F907L)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 1666783	NM_176787.5(PIGN):c.2713T>C (p.Leu905=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472226	NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu)	PIGN (F904L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 589126	NM_176787.5(PIGN):c.2707A>G (p.Ile903Val)	PIGN (I903V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 2954900	NM_176787.5(PIGN):c.2706C>T (p.Thr902=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1475663	NM_176787.5(PIGN):c.2701A>G (p.Met901Val)	PIGN (M901V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1648007	NM_176787.5(PIGN):c.2700C>T (p.Ser900=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2661953	NM_176787.5(PIGN):c.2699C>G (p.Ser900Cys)	PIGN (S900C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314418	NM_176787.5(PIGN):c.2695A>G (p.Met899Val)	PIGN (M899V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 577994	NM_176787.5(PIGN):c.2693T>C (p.Val898Ala)	PIGN (V898A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 3212811	NM_176787.5(PIGN):c.2692G>T (p.Val898Phe)	PIGN (V898F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2694811	NM_176787.5(PIGN):c.2691T>A (p.Ile897=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 591210	NM_176787.5(PIGN):c.2685T>A (p.Tyr895Ter)	PIGN (Y895*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2190984	NM_176787.5(PIGN):c.2684A>G (p.Tyr895Cys)	PIGN (Y895C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 449082	NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)	PIGN (S893R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653844	NM_176787.5(PIGN):c.2674A>G (p.Ile892Val)	PIGN (I892V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1078796	NM_176787.5(PIGN):c.2673-8T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1605766	NM_176787.5(PIGN):c.2673-16T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2094347	NM_176787.5(PIGN):c.2673-20A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1190538	NM_176787.5(PIGN):c.2673-113C>T	PIGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1801464	NM_176787.5(PIGN):c.2673-514_2673-513insGCAAACCGGCCGGGCGGTGGCTGACGCCCTGTAATCCCAGCACTTTGGCAAAAGAAGGCCGAGGCGGGCGGATCACGAGGGTCAGGATATCGAGACAATTCCGGCTCTAAAACGGTGAAACCTCGTTCTATAAAAATATACCAAAACAATTAGACGGGCGTTGTGGCGGGCGCCTGTAAGTCCAGCTACCTTGGGAGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGGCGGAGCTTGCAGTCTGAGACGAGATCCCGCCACTGCACACAGCGCTGGGCGACAGAGCGCGAGACCCTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTGT	PIGN	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 2986001	NM_176787.5(PIGN):c.2672+16del	PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2026435	NM_176787.5(PIGN):c.2672+13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472225	NM_176787.5(PIGN):c.2672+10A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1077305	NM_176787.5(PIGN):c.2672+7T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1436090	NM_176787.5(PIGN):c.2672+4T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1369181	NM_176787.5(PIGN):c.2672+3A>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 449284	NM_176787.5(PIGN):c.2672+1G>T	PIGN	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451788	NM_176787.5(PIGN):c.2672G>A (p.Ser891Asn)	PIGN (S891N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007807	NM_176787.5(PIGN):c.2671A>G (p.Ser891Gly)	PIGN (S891G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1417744	NM_176787.5(PIGN):c.2668A>G (p.Thr890Ala)	PIGN (T890A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1994693	NM_176787.5(PIGN):c.2666G>T (p.Gly889Val)	PIGN (G889V)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2789630	NM_176787.5(PIGN):c.2655del (p.Trp885fs)	PIGN (W885fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 2086119	NM_176787.5(PIGN):c.2655G>C (p.Trp885Cys)	PIGN (W885C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1401181	NM_176787.5(PIGN):c.2651G>T (p.Ser884Ile)	PIGN (S884I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2735265	NM_176787.5(PIGN):c.2646_2647insA (p.Gly883fs)	PIGN (G883fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 846654	NM_176787.5(PIGN):c.2647G>A (p.Gly883Ser)	PIGN (G883S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 844036	NM_176787.5(PIGN):c.2644_2645insTGCC (p.Tyr882fs)	PIGN (Y882fs)	Insertion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1093801	NM_176787.5(PIGN):c.2637C>T (p.Val879=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign

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