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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	not provided	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)	not provided +1 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)	not provided +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)	not provided +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
Select item 1581905	NM_032634.4(PIGO):c.3070-18C>T	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1207380	NM_032634.4(PIGO):c.3070-25C>T	PIGO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670827	NM_032634.4(PIGO):c.3070-51C>T	PIGO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677606	NM_032634.4(PIGO):c.3069+248dup	PIGO	Duplication (intron variant)	not provided	GLikely benign
Select item 35601	NM_032634.3(PIGO):c.3069+5G>A	PIGO	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 422406	NM_032634.4(PIGO):c.3069+2T>C	PIGO	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 1040767	NM_032634.4(PIGO):c.3069G>T (p.Gln1023His)	PIGO (Q1023H +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2732848	NM_032634.4(PIGO):c.3067C>T (p.Gln1023Ter)	PIGO (Q1023* +1 more)	Single nucleotide variant (nonsense)	Hyperphosphatasia with intellectual disability syndrome 2	GPathogenic
Select item 2743901	NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 450853	NM_032634.4(PIGO):c.3062G>C (p.Gly1021Ala)	PIGO (G1021A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1017938	NM_032634.4(PIGO):c.3061G>A (p.Gly1021Ser)	PIGO (G1021S +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 757971	NM_032634.4(PIGO):c.3048C>T (p.Tyr1016=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 750007	NM_032634.4(PIGO):c.3039C>T (p.Gly1013=)	PIGO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471173	NM_032634.4(PIGO):c.3038G>T (p.Gly1013Val)	PIGO (G1013V +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2201417	NM_032634.4(PIGO):c.3020C>G (p.Ala1007Gly)	PIGO (A590G +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 2530643	NM_032634.4(PIGO):c.3015C>A (p.Phe1005Leu)	PIGO (F1005L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848501	NM_032634.4(PIGO):c.3014T>C (p.Phe1005Ser)	PIGO (F1005S +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2 +1 more	GUncertain significance
Select item 1623699	NM_032634.4(PIGO):c.3003G>A (p.Ala1001=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 2011445	NM_032634.4(PIGO):c.3002C>A (p.Ala1001Glu)	PIGO (A1001E +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 650447	NM_032634.4(PIGO):c.3002C>T (p.Ala1001Val)	PIGO (A1001V +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1434010	NM_032634.4(PIGO):c.2996G>A (p.Arg999Gln)	PIGO (R582Q +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 850506	NM_032634.4(PIGO):c.2995C>T (p.Arg999Trp)	PIGO (R999W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2049124	NM_032634.4(PIGO):c.2991G>C (p.Arg997=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign
Select item 1478202	NM_032634.4(PIGO):c.2990G>T (p.Arg997Leu)	PIGO (R580L +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 1312202	NM_032634.4(PIGO):c.2990G>A (p.Arg997Gln)	PIGO (R580Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310184	NM_032634.4(PIGO):c.2989C>T (p.Arg997Trp)	PIGO (R580W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1348418	NM_032634.4(PIGO):c.2988G>C (p.Met996Ile)	PIGO (M996I +1 more)	Single nucleotide variant (missense variant)	Hyperphosphatasia with intellectual disability syndrome 2	GUncertain significance
Select item 473229	NM_032634.4(PIGO):c.2979G>A (p.Leu993=)	PIGO	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2886922	NM_032634.4(PIGO):c.2967A>G (p.Glu989=)	PIGO	Single nucleotide variant (synonymous variant)	Hyperphosphatasia with intellectual disability syndrome 2	GLikely benign

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