84720[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001752, LOC130001753 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001810, LOC130001811 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC113839555, LOC113839556 +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001585, LOC130001586 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	PUM3, QNG1 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001472, LOC130001473 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	ACER2, ACO1 +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	LOC130001648, LOC130001649 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC130001569, LOC130001570 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +893 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001690, LOC130001691 +585 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001818, LOC130001819 +690 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	LOC126860615, LOC126860616 +435 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	LOC130001735, LOC130001736 +503 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 914783	NM_032634.4(PIGO):c.*382G>A	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366748	NM_032634.4(PIGO):c.*372A>T	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366749	NM_032634.4(PIGO):c.*267C>G	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GBenign/Likely benign
Select item 914784	NM_032634.4(PIGO):c.*251C>T	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 914785	NM_032634.4(PIGO):c.*221G>A	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 914786	NM_032634.4(PIGO):c.*220G>C	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 976623	NM_032634.4(PIGO):c.*219G>A	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366750	NM_032634.4(PIGO):c.*61C>T	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366751	NM_032634.4(PIGO):c.*41T>G	PIGO	Single nucleotide variant (3 prime UTR variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GBenign
Select item 420520	NM_032634.4(PIGO):c.*8TG[1]	PIGO	Microsatellite (3 prime UTR variant)	PIGO-related disorder +1 more	GLikely benign
Select item 1127064	NM_032634.4(PIGO):c.3267G>A (p.Arg1089=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2128496	NM_032634.4(PIGO):c.3261_3262delinsAG (p.Gln1088Glu)	PIGO (Q1088E +1 more)	Indel (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 569462	NM_032634.4(PIGO):c.3262C>G (p.Gln1088Glu)	PIGO (Q1088E +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 805131	NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter)	PIGO (Q670* +1 more)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 999991	NM_032634.4(PIGO):c.3253C>A (p.Leu1085Met)	PIGO (L1085M +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1210966	NM_032634.4(PIGO):c.3244C>T (p.Gln1082Ter)	PIGO (Q1082* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2112365	NM_032634.4(PIGO):c.3233C>G (p.Ser1078Cys)	PIGO (S661C +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1032978	NM_032634.4(PIGO):c.3233C>T (p.Ser1078Phe)	PIGO (S661F +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 540458	NM_032634.4(PIGO):c.3231C>T (p.Ser1077=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 972120	NM_032634.4(PIGO):c.3230G>C (p.Ser1077Thr)	PIGO (S1077T +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2043117	NM_032634.4(PIGO):c.3219T>C (p.Asp1073=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2802211	NM_032634.4(PIGO):c.3216G>T (p.Val1072=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 452203	NM_032634.4(PIGO):c.3213_3214del (p.Arg1071fs)	PIGO (R1071fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1044129	NM_032634.4(PIGO):c.3212G>A (p.Arg1071Lys)	PIGO (R1071K +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1118499	NM_032634.4(PIGO):c.3207G>A (p.Val1069=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2090400	NM_032634.4(PIGO):c.3199G>C (p.Ala1067Pro)	PIGO (A650P +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1986168	NM_032634.4(PIGO):c.3198A>T (p.Ile1066=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 660495	NM_032634.4(PIGO):c.3198A>G (p.Ile1066Met)	PIGO (I649M +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 625991	NM_032634.4(PIGO):c.3194G>C (p.Gly1065Ala)	PIGO (G1065A +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1948168	NM_032634.4(PIGO):c.3178G>C (p.Val1060Leu)	PIGO (V1060L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 848758	NM_032634.4(PIGO):c.3178G>A (p.Val1060Met)	PIGO (V1060M +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366752	NM_032634.4(PIGO):c.3177C>T (p.Ser1059=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 750008	NM_032634.4(PIGO):c.3174C>T (p.Ser1058=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1370116	NM_032634.4(PIGO):c.3169G>T (p.Val1057Leu)	PIGO (V640L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1465414	NM_032634.4(PIGO):c.3167T>G (p.Ile1056Ser)	PIGO (I639S +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 378364	NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)	PIGO (F1055L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1036755	NM_032634.4(PIGO):c.3154_3155delinsTT (p.Ala1052Phe)	PIGO (A635F +1 more)	Indel (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2897295	NM_032634.4(PIGO):c.3141-9T>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1086874	NM_032634.4(PIGO):c.3141-9T>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 507051	NM_032634.4(PIGO):c.3141-9T>A	PIGO	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1588344	NM_032634.4(PIGO):c.3141-13C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 385727	NM_032634.4(PIGO):c.3141-15C>T	PIGO	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2826770	NM_032634.4(PIGO):c.3141-19T>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1586606	NM_032634.4(PIGO):c.3140+13G>C	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1900141	NM_032634.4(PIGO):c.3140+11T>A	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2158867	NM_032634.4(PIGO):c.3138del (p.Lys1047fs)	PIGO (K630fs +1 more)	Deletion (frameshift variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1148334	NM_032634.4(PIGO):c.3135C>T (p.Ala1045=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2496273	NM_032634.4(PIGO):c.3133G>T (p.Ala1045Ser)	PIGO (A1045S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2043337	NM_032634.4(PIGO):c.3126A>G (p.Lys1042=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2012615	NM_032634.4(PIGO):c.3118G>T (p.Val1040Phe)	PIGO (V623F +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 366753	NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)	PIGO (V1040I +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 262097	NM_032634.4(PIGO):c.3114C>T (p.Leu1038=)	PIGO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 582749	NM_032634.4(PIGO):c.3113T>G (p.Leu1038Arg)	PIGO (L1038R +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 658322	NM_032634.4(PIGO):c.3107G>A (p.Arg1036Lys)	PIGO (R619K +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 969558	NM_032634.4(PIGO):c.3104G>A (p.Arg1035His)	PIGO (R1035H +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 945008	NM_032634.4(PIGO):c.3104G>T (p.Arg1035Leu)	PIGO (R1035L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 450677	NM_032634.4(PIGO):c.3103C>T (p.Arg1035Cys)	PIGO (R1035C +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 2542285	NM_032634.4(PIGO):c.3100C>T (p.Leu1034Phe)	PIGO (L1034F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2000263	NM_032634.4(PIGO):c.3099C>T (p.Ile1033=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 649301	NM_032634.4(PIGO):c.3099C>G (p.Ile1033Met)	PIGO (I1033M +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 643744	NM_032634.4(PIGO):c.3098T>C (p.Ile1033Thr)	PIGO (I616T +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1128564	NM_032634.4(PIGO):c.3096C>T (p.Ser1032=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 842828	NM_032634.4(PIGO):c.3086T>C (p.Leu1029Ser)	PIGO (L1029S +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1647328	NM_032634.4(PIGO):c.3078C>T (p.Ala1026=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1958682	NM_032634.4(PIGO):c.3073C>T (p.Leu1025=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1605898	NM_032634.4(PIGO):c.3070-12CTC[2]	PIGO	Microsatellite (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1136045	NM_032634.4(PIGO):c.3070-6C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2711160	NM_032634.4(PIGO):c.3070-12C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1602422	NM_032634.4(PIGO):c.3070-14_3070-12del	PIGO	Microsatellite (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 366754	NM_032634.4(PIGO):c.3070-12C>G	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1621195	NM_032634.4(PIGO):c.3070-15C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign

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