17893[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2641518	NM_001346397.1(PGAP2):c.-102G>C	PGAP2 (G12A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2570161	NM_001145438.2(PGAP2):c.97A>T (p.Arg33Trp)	PGAP2 (R33W)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1030428	NM_001346397.2(PGAP2):c.10A>G (p.Ile4Val)	PGAP2 (I4V)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 1235044	NM_001145438.2(PGAP2):c.139+55C>T	PGAP2 (P20S)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 1238749	NM_001145438.2(PGAP2):c.139+207T>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289378	NM_001145438.2(PGAP2):c.140-301A>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182903	NM_001145438.2(PGAP2):c.140-300C>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220981	NM_001145438.2(PGAP2):c.140-227_140-225del	PGAP2	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1234659	NM_001145438.2(PGAP2):c.140-105G>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2255516	NM_001145438.2(PGAP2):c.142A>G (p.Arg48Gly)	PGAP2 (R42G +1 more)	Single nucleotide variant (missense variant +4 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2641519	NM_001256235.1(PGAP2):c.-58T>C	PGAP2 (W43R +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2641520	NM_001256235.1(PGAP2):c.-44G>A	PGAP2 (R8K)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1279122	NM_014489.4(PGAP2):c.-30C>G	LOC130005158, PGAP2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1236447	NM_014489.4(PGAP2):c.-10-223G>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1678531	NM_014489.4(PGAP2):c.1A>G (p.Met1Val)	PGAP2 (M1V +2 more)	Single nucleotide variant (missense variant +5 more)	Hyperphosphatasia with intellectual disability syndrome 3	GLikely pathogenic
Select item 694699	NM_014489.4(PGAP2):c.2T>G (p.Met1Arg)	PGAP2 (C13G +3 more)	Single nucleotide variant (missense variant +4 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 2047137	NM_014489.4(PGAP2):c.10G>A (p.Val4Ile)	PGAP2 (V61I +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 754083	NM_014489.4(PGAP2):c.30G>T (p.Arg10=)	PGAP2 (G22V)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 50505	NM_014489.4(PGAP2):c.46C>T (p.Arg16Trp)	PGAP2 (R16W +2 more)	Single nucleotide variant (missense variant +4 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 2459988	NM_014489.4(PGAP2):c.47G>A (p.Arg16Gln)	PGAP2 (G28S +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 738390	NM_014489.4(PGAP2):c.52C>T (p.Arg18Cys)	PGAP2 (R18C +2 more)	Single nucleotide variant (missense variant +4 more)	not provided	GLikely benign
Select item 3211649	NM_014489.4(PGAP2):c.53G>A (p.Arg18His)	PGAP2 (A8T +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 816936	NM_014489.4(PGAP2):c.97G>A (p.Ala33Thr)	PGAP2 (A33T +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2429794	NM_014489.4(PGAP2):c.112A>G (p.Ile38Val)	PGAP2 (I38V +2 more)	Single nucleotide variant (missense variant +4 more)	Autism spectrum disorder	GLikely benign
Select item 750027	NM_014489.4(PGAP2):c.129C>A (p.Leu43=)	PGAP2 (S55Y +1 more)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 2235024	NM_014489.4(PGAP2):c.146C>T (p.Thr49Ile)	PGAP2 (T49I +4 more)	Single nucleotide variant (missense variant +4 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 723080	NM_014489.4(PGAP2):c.150G>T (p.Thr50=)	PGAP2 (R40L +1 more)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 3006467	NM_014489.4(PGAP2):c.165+11G>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1531384	NM_014489.4(PGAP2):c.165+20A>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188739	NM_014489.4(PGAP2):c.165+56A>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1302030	NM_014489.4(PGAP2):c.166-221G>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283630	NM_014489.4(PGAP2):c.166-94C>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2299941	NM_014489.4(PGAP2):c.170C>T (p.Thr57Met)	PGAP2 (T114M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355147	NM_014489.4(PGAP2):c.188C>T (p.Ser63Phe)	PGAP2 (S120F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3305935	NM_014489.4(PGAP2):c.206T>C (p.Leu69Ser)	PGAP2 (L126S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211644	NM_014489.4(PGAP2):c.214G>A (p.Asp72Asn)	PGAP2 (D129N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211645	NM_014489.4(PGAP2):c.229C>T (p.Arg77Trp)	PGAP2 (R134W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3211646	NM_014489.4(PGAP2):c.235C>T (p.Arg79Cys)	PGAP2 (R136C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299547	NM_014489.4(PGAP2):c.280G>A (p.Gly94Ser)	PGAP2 (G94S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279991	NM_014489.4(PGAP2):c.329C>T (p.Thr110Met)	PGAP2 (T110M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1233879	NM_014489.4(PGAP2):c.348+47T>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296690	NM_014489.4(PGAP2):c.348+134A>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264935	NM_014489.4(PGAP2):c.348+145G>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284099	NM_014489.4(PGAP2):c.348+188T>C	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040676	NM_014489.4(PGAP2):c.349-959A>C	PGAP2	Single nucleotide variant (synonymous variant +3 more)	PGAP2-related disorder	GLikely benign
Select item 931683	NM_014489.4(PGAP2):c.349-910C>A	PGAP2 (H89N +1 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 1231487	NM_014489.4(PGAP2):c.349-802A>G	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266076	NM_014489.4(PGAP2):c.349-745A>G	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302031	NM_014489.4(PGAP2):c.349-706G>A	PGAP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2007056	NM_014489.4(PGAP2):c.349-6C>T	PGAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2429795	NM_014489.4(PGAP2):c.368C>T (p.Ser123Leu)	PGAP2 (S102L +6 more)	Single nucleotide variant (missense variant +3 more)	Autism spectrum disorder	GLikely benign
Select item 633511	NM_014489.4(PGAP2):c.380C>T (p.Ala127Val)	PGAP2 (A184V +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GLikely pathogenic
Select item 802650	NM_014489.4(PGAP2):c.391dup (p.Glu131fs)	PGAP2 (E110fs +8 more)	Duplication (frameshift variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 3211647	NM_014489.4(PGAP2):c.388G>A (p.Gly130Arg)	PGAP2 (G87R +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 827783	NM_014489.4(PGAP2):c.391G>T (p.Glu131Ter)	PGAP2 (E110* +8 more)	Single nucleotide variant (nonsense +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 802651	NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly)	PGAP2 (E70G +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 802652	NM_014489.4(PGAP2):c.395T>G (p.Val132Gly)	PGAP2 (V111G +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 2533298	NM_014489.4(PGAP2):c.430C>G (p.Leu144Val)	PGAP2 (L140V +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368972	NM_014489.4(PGAP2):c.445C>T (p.Arg149Cys)	PGAP2 (R106C +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 802653	NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser)	PGAP2 (F146S +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GLikely pathogenic
Select item 50502	NM_014489.4(PGAP2):c.479A>G (p.Tyr160Cys)	PGAP2 (Y99C +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 2058142	NM_014489.4(PGAP2):c.481C>T (p.Leu161Phe)	PGAP2 (L151F +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3305936	NM_014489.4(PGAP2):c.487T>G (p.Cys163Gly)	PGAP2 (C163G +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 50506	NM_014489.4(PGAP2):c.491C>T (p.Thr164Ile)	PGAP2 (T160I +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 3211648	NM_014489.4(PGAP2):c.511C>T (p.Arg171Cys)	PGAP2 (R161C +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 725983	NM_014489.4(PGAP2):c.516G>A (p.Pro172=)	PGAP2 (A115T +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2532326	NM_014489.4(PGAP2):c.530A>T (p.Asn177Ile)	PGAP2 (N134I +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 424970	NM_014489.4(PGAP2):c.530A>G (p.Asn177Ser)	PGAP2 (N134S +6 more)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 714153	NM_014489.4(PGAP2):c.535G>A (p.Gly179Ser)	PGAP2 (G118S +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2463827	NM_014489.4(PGAP2):c.542A>G (p.Asn181Ser)	PGAP2 (N238S +6 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2706761	NM_014489.4(PGAP2):c.544G>A (p.Val182Ile)	PGAP2 (V239I +9 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1985401	NM_014489.4(PGAP2):c.547G>A (p.Val183Met)	PGAP2 (R125H +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3020235	NM_014489.4(PGAP2):c.558C>T (p.Leu186=)	PGAP2 (R167C +2 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1421387	NM_014489.4(PGAP2):c.559G>A (p.Ala187Thr)	PGAP2 (R129H +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1992129	NM_014489.4(PGAP2):c.561G>A (p.Ala187=)	PGAP2 (V130I +2 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 50504	NM_014489.4(PGAP2):c.563T>C (p.Leu188Ser)	PGAP2 (L127S +6 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1511828	NM_014489.4(PGAP2):c.602-3C>T	PGAP2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 724055	NM_014489.4(PGAP2):c.606C>T (p.Ile202=)	PGAP2 (P183S +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2712857	NM_014489.4(PGAP2):c.609C>T (p.His203=)	PGAP2 (R184* +3 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3211651	NM_014489.4(PGAP2):c.610G>A (p.Glu204Lys)	PGAP2 (E261K +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410050	NM_014489.4(PGAP2):c.615T>A (p.Asn205Lys)	PGAP2 (C148S +10 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GUncertain significance
Select item 3046288	NM_014489.4(PGAP2):c.645C>G (p.Leu215=)	PGAP2 (R108G +3 more)	Single nucleotide variant (synonymous variant +2 more)	PGAP2-related disorder	GLikely benign
Select item 424971	NM_014489.4(PGAP2):c.646G>A (p.Gly216Arg)	PGAP2 (G173R +9 more)	Single nucleotide variant (missense variant +1 more)	Hyperphosphatasia with intellectual disability syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1805802	NM_014489.4(PGAP2):c.657C>T (p.Leu219=)	PGAP2 (P112S +3 more)	Single nucleotide variant (synonymous variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 3	GUncertain significance
Select item 2998832	NM_014489.4(PGAP2):c.672C>T (p.Leu224=)	PGAP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2231389	NM_014489.4(PGAP2):c.708+4C>T	PGAP2 (R177W +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2984152	NM_014489.4(PGAP2):c.708+18C>T	PGAP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2641521	NM_014489.4(PGAP2):c.708+36C>A	PGAP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 377014	NM_014489.4(PGAP2):c.712C>T (p.Arg238Cys)	PGAP2 (R195C +16 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 50503	NM_014489.4(PGAP2):c.713G>C (p.Arg238Pro)	PGAP2 (R177P +8 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 3	GPathogenic
Select item 522122	NM_014489.4(PGAP2):c.732dup (p.Gln245fs)	PGAP2 (Q224fs +16 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1373662	NM_014489.4(PGAP2):c.730A>T (p.Lys244Ter)	PGAP2 (K183* +16 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2237650	NM_014489.4(PGAP2):c.736C>T (p.Arg246Trp)	PGAP2 (A209V +17 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2692369	NM_014489.4(PGAP2):c.737G>T (p.Arg246Leu)	PGAP2 (R181L +8 more)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 3	GLikely pathogenic

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