Related gene-specific medical variations for Gene (Select 23556) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373717	NM_176787.5(PIGN):c.1775C>T (p.Ser592Leu)	PIGN, LOC132090497 (S592L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242782	NC_000018.9:g.(?_59819871)_(59824934_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242781	NC_000018.9:g.(?_59772865)_(59775077_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 3242780	NC_000018.9:g.(?_59755969)_(59763203_?)dup	PIGN	Duplication	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 3242779	NC_000018.9:g.(?_59739886)_(59828586_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242778	NC_000018.9:g.(?_59805456)_(59828586_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242777	NC_000018.9:g.(?_59739886)_(59749999_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242775	NC_000018.9:g.(?_59713089)_(59752517_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242774	NC_000018.9:g.(?_59755969)_(59781892_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242773	NC_000018.9:g.(?_59828346)_(59828586_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3242772	NC_000018.9:g.(?_59713089)_(59828586_?)del	PIGN	Deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 3016726	NM_176787.5(PIGN):c.1173-9T>A	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2955004	NM_176787.5(PIGN):c.1173-9del	LOC132090498, PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GBenign
Select item 2912574	NM_176787.5(PIGN):c.1768-13T>G	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2910935	NM_176787.5(PIGN):c.1173-13T>C	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2864046	NM_176787.5(PIGN):c.1768-6T>C	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2853129	NM_176787.5(PIGN):c.1173-7T>C	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2846156	NM_176787.5(PIGN):c.1794C>T (p.Phe598=)	LOC132090497, PIGN	Single nucleotide variant (synonymous variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2817919	NM_176787.5(PIGN):c.1768-12T>G	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2791737	NM_176787.5(PIGN):c.1173-4A>G	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2760847	NM_176787.5(PIGN):c.1173-17C>T	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2741715	NM_176787.5(PIGN):c.1768-8G>A	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2741092	NM_176787.5(PIGN):c.1173-6A>G	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2720479	NM_176787.5(PIGN):c.1173-10T>A	LOC132090498, 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 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 2434842	NM_176787.5(PIGN):c.2018G>A (p.Ser673Asn)	PIGN (S673N)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2434841	NM_176787.5(PIGN):c.754G>T (p.Asp252Tyr)	PIGN (D252Y)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2434840	NM_176787.5(PIGN):c.532G>A (p.Val178Ile)	PIGN (V178I)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2155739	NM_176787.5(PIGN):c.1778T>A (p.Leu593Gln)	LOC132090497, PIGN (L593Q)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 2129357	NM_176787.5(PIGN):c.1768-18_1768-17del	LOC132090497, PIGN	Deletion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 2123025	NM_176787.5(PIGN):c.1768-7A>G	LOC132090497, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1935336	NM_176787.5(PIGN):c.1782T>A (p.Ser594Arg)	LOC132090497, PIGN (S594R)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1809142	GRCh37/hg19 18q21.33(chr18:59749355-59818707)x1	PIGN	Copy number loss	not provided	GUncertain significance
Select item 1802658	NM_176787.5(PIGN):c.1251+1G>T	PIGN	Single nucleotide variant (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1801464	NM_176787.5(PIGN):c.2673-514_2673-513insGCAAACCGGCCGGGCGGTGGCTGACGCCCTGTAATCCCAGCACTTTGGCAAAAGAAGGCCGAGGCGGGCGGATCACGAGGGTCAGGATATCGAGACAATTCCGGCTCTAAAACGGTGAAACCTCGTTCTATAAAAATATACCAAAACAATTAGACGGGCGTTGTGGCGGGCGCCTGTAAGTCCAGCTACCTTGGGAGGTGAGGCAGGAGAATGGCGTGAACCCGGGAGGGCGGAGCTTGCAGTCTGAGACGAGATCCCGCCACTGCACACAGCGCTGGGCGACAGAGCGCGAGACCCTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAGTGT	PIGN	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1579922	NM_176787.5(PIGN):c.1173-18T>C	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1526631	GRCh37/hg19 18q21.33(chr18:59765886-59818707)	PIGN	Copy number loss	not specified	GUncertain significance
Select item 1487949	NM_176787.5(PIGN):c.1173-1G>T	LOC132090498, PIGN	Single nucleotide variant (splice acceptor variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 1464409	NM_176787.5(PIGN):c.1173-8dup	LOC132090498, PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 1405285	NM_176787.5(PIGN):c.1768A>T (p.Met590Leu)	PIGN, LOC132090497 (M590L)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 1324909	NM_176787.5(PIGN):c.407G>A (p.Trp136Ter)	PIGN (W136*)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely pathogenic
Select item 1293982	NM_176787.5(PIGN):c.1173-83T>A	PIGN, LOC132090498	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274117	NM_176787.5(PIGN):c.1173-148A>C	LOC132090498, PIGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230359	NM_176787.5(PIGN):c.1768-59C>T	LOC132090497, PIGN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165070	NM_176787.5(PIGN):c.1173-16dup	LOC132090498, PIGN	Duplication (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GBenign
Select item 1091415	NM_176787.5(PIGN):c.1173-10_1173-9insA	LOC132090498, PIGN	Insertion (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 694261	NM_176787.5(PIGN):c.1790del (p.Phe597fs)	LOC132090497, PIGN (F597fs)	Deletion (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic
Select item 686030	GRCh37/hg19 18q21.33(chr18:59749354-59818707)x1	PIGN	Copy number loss	not provided	GPathogenic
Select item 643181	NM_176787.5(PIGN):c.1790T>C (p.Phe597Ser)	LOC132090497, PIGN (F597S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 591315	NM_176787.5(PIGN):c.2620-2A>T	PIGN	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 591210	NM_176787.5(PIGN):c.2685T>A (p.Tyr895Ter)	PIGN (Y895*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591177	NM_176787.5(PIGN):c.2180+1G>C	PIGN	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 564483	GRCh37/hg19 18q21.33(chr18:59749354-59810007)x1	PIGN	Copy number loss	not provided	GUncertain significance
Select item 539564	NM_176787.5(PIGN):c.1173-8A>G	LOC132090498, PIGN	Single nucleotide variant (intron variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GLikely benign
Select item 539550	NM_176787.5(PIGN):c.1793T>C (p.Phe598Ser)	LOC132090497, PIGN (F598S)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GUncertain significance
Select item 446119	NM_176787.5(PIGN):c.421dup (p.Ile141fs)	PIGN (I141fs)	Duplication (frameshift variant)	Multiple congenital anomalies-hypotonia-seizures syndrome 1	GPathogenic

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Links from Gene

Items: 57