PIGN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 472229	NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn)	PIGN (S928N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +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)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +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)	not provided +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)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +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)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +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
Select item 1715848	NM_176787.5(PIGN):c.2636T>C (p.Val879Ala)	PIGN (V879A)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 938970	NM_176787.5(PIGN):c.2635G>A (p.Val879Ile)	PIGN (V879I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 579491	NM_176787.5(PIGN):c.2624T>G (p.Phe875Cys)	PIGN (F875C)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1793946	NM_176787.5(PIGN):c.2620C>A (p.His874Asn)	PIGN (H874N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GUncertain significance
Select item 663869	NM_176787.5(PIGN):c.2620-1G>A	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 1465986	NM_176787.5(PIGN):c.2620-2A>G	PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 591315	NM_176787.5(PIGN):c.2620-2A>T	PIGN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1116784	NM_176787.5(PIGN):c.2620-17_2620-15dup	PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 681232	NM_176787.5(PIGN):c.2620-17_2620-16dup	PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GBenign
Select item 587858	NM_176787.5(PIGN):c.2620-17dup	PIGN	Duplication (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1128189	NM_176787.5(PIGN):c.2620-6_2620-5insTC	PIGN	Insertion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 218857	NM_176787.5(PIGN):c.2620-5del	PIGN	Deletion (intron variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2858061	NM_176787.5(PIGN):c.2620-14T>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2199138	NM_176787.5(PIGN):c.2620-18C>T	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2865265	NM_176787.5(PIGN):c.2620-19C>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2727474	NM_176787.5(PIGN):c.2620-19C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1190816	NM_176787.5(PIGN):c.2619+156del	PIGN	Deletion (intron variant)	not provided	GLikely benign
Select item 1334081	NM_176787.5(PIGN):c.2619+87G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1200105	NM_176787.5(PIGN):c.2619+46G>T	PIGN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157492	NM_176787.5(PIGN):c.2619+20T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2701805	NM_176787.5(PIGN):c.2619+17T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2909231	NM_176787.5(PIGN):c.2619+15G>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2730944	NM_176787.5(PIGN):c.2619+14G>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1170494	NM_176787.5(PIGN):c.2619+14G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GBenign/Likely benign
Select item 2775624	NM_176787.5(PIGN):c.2619+13T>C	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2916403	NM_176787.5(PIGN):c.2619+12C>G	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2582488	NM_176787.5(PIGN):c.2619+5G>A	PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2068012	NM_176787.5(PIGN):c.2615C>G (p.Ala872Gly)	PIGN (A872G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1793752	NM_176787.5(PIGN):c.2608A>G (p.Ile870Val)	PIGN (I870V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2095041	NM_176787.5(PIGN):c.2606A>G (p.Asp869Gly)	PIGN (D869G)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2693988	NM_176787.5(PIGN):c.2601A>C (p.Ile867=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 472224	NM_176787.5(PIGN):c.2600T>C (p.Ile867Thr)	PIGN (I867T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 576219	NM_176787.5(PIGN):c.2596G>A (p.Val866Ile)	PIGN (V866I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 1186462	NM_176787.5(PIGN):c.2595C>T (p.Leu865=)	PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1 +1 more	GLikely benign
Select item 472223	NM_176787.5(PIGN):c.2590G>A (p.Val864Ile)	PIGN (V864I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance

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