5295[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 146335	GRCh38/hg38 5q12.1-13.2(chr5:63207112-71291191)x3	ADAMTS6, AK6 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 57512	GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1	ADAMTS6, AK6 +115 more	Copy number loss	See cases	GPathogenic
Select item 154729	GRCh38/hg38 5q12.3-13.2(chr5:65976124-71317474)x3	AK6, CCDC125 +101 more	Copy number gain	See cases	GUncertain significance
Select item 1301271	NM_181523.3(PIK3R1):c.-386-183C>T	PIK3R1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204979	NM_181523.3(PIK3R1):c.-280A>G	PIK3R1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1591013	NM_181523.3(PIK3R1):c.9T>C (p.Ala3=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2934374	NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 286403	NM_181523.3(PIK3R1):c.25A>G (p.Arg9Gly)	PIK3R1 (R9G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 436317	NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val)	PIK3R1 (A10V)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +3 more	GUncertain significance
Select item 2141566	NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2043408	NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 1313345	NM_181523.3(PIK3R1):c.62A>T (p.Asp21Val)	PIK3R1 (D21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 463166	NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)	PIK3R1 (I22T)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 3306623	NM_181523.3(PIK3R1):c.87A>G (p.Ile29Met)	PIK3R1 (I29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653084	NM_181523.3(PIK3R1):c.88T>C (p.Leu30=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 2930667	NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2103702	NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)	PIK3R1 (G35D)	Indel (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1396161	NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala)	PIK3R1 (G35A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2938041	NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 1088476	NM_181523.3(PIK3R1):c.108C>A (p.Ser36=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 1354488	NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro)	PIK3R1 (L40P)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1718323	NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)	PIK3R1 (E51K)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1999320	NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)	PIK3R1 (I53V)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 3212981	NM_181523.3(PIK3R1):c.158T>C (p.Ile53Thr)	PIK3R1 (I53T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2000466	NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 1141270	NM_181523.3(PIK3R1):c.168A>G (p.Leu56=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 661141	NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)	PIK3R1 (N57S)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2939897	NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)	PIK3R1 (E61D)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 934762	NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile)	PIK3R1 (T62I)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 463163	NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +3 more	GBenign/Likely benign
Select item 871774	NM_181523.3(PIK3R1):c.202dup (p.Asp68fs)	PIK3R1 (D68fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 440070	NM_181523.3(PIK3R1):c.197G>A (p.Arg66Lys)	PIK3R1 (R66K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2160284	NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 951482	NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)	PIK3R1 (G67E)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 1053229	NM_181523.3(PIK3R1):c.202G>C (p.Asp68His)	PIK3R1 (D68H)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 463164	NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)	PIK3R1 (D68N)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2938577	NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2934068	NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)	PIK3R1 (F69L)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1018392	NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu)	PIK3R1 (P70L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 762043	NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +3 more	GLikely benign
Select item 2119098	NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 159722	NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +4 more	GBenign/Likely benign
Select item 1414170	NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)	PIK3R1 (V74I)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2945406	NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2946486	NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)	PIK3R1 (S83L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 764425	NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 846266	NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)	PIK3R1 (P84R)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 450796	NM_181523.3(PIK3R1):c.251C>T (p.Pro84Leu)	PIK3R1 (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843492	NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)	PIK3R1 (T86I)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2007295	NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2059716	NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2933379	NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)	PIK3R1 (R90W)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2940039	NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)	PIK3R1 (P92R)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1020344	NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln)	PIK3R1 (R93Q)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 744362	NM_181523.3(PIK3R1):c.291T>C (p.Val97=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 436314	NM_181523.3(PIK3R1):c.291T>G (p.Val97=)	PIK3R1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3212982	NM_181523.3(PIK3R1):c.296C>G (p.Pro99Arg)	PIK3R1 (P99R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2926915	NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)	PIK3R1 (G100A)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 1132785	NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)	PIK3R1 (S102L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1165262	NM_181523.3(PIK3R1):c.306G>A (p.Ser102=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GBenign
Select item 2928076	NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2934825	NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)	PIK3R1 (D107H)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 2172742	NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)	PIK3R1 (Q111del)	Microsatellite (inframe_deletion)	SHORT syndrome +2 more	GUncertain significance
Select item 1540528	NM_181523.3(PIK3R1):c.330A>G (p.Gln110=)	PIK3R1	Single nucleotide variant (synonymous variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 853571	NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)	PIK3R1 (Q111R)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1002218	NM_181523.3(PIK3R1):c.334+4A>G	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 961973	NM_181523.3(PIK3R1):c.334+4_334+9del	PIK3R1	Deletion (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1988682	NM_181523.3(PIK3R1):c.334+7A>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GLikely benign
Select item 1164326	NM_181523.3(PIK3R1):c.334+12T>C	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GBenign
Select item 1666769	NM_181523.3(PIK3R1):c.334+14_334+15delinsCA	PIK3R1	Indel (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 159723	NM_181523.3(PIK3R1):c.334+14A>C	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +4 more	GBenign/Likely benign
Select item 1909990	NM_181523.3(PIK3R1):c.334+18G>C	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 1159864	NM_181523.3(PIK3R1):c.334+18G>A	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GLikely benign
Select item 1265204	NM_181523.3(PIK3R1):c.334+83T>C	PIK3R1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628263	NM_181523.3(PIK3R1):c.334+12973A>C	PIK3R1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688197	NM_181523.3(PIK3R1):c.335-21006dup	PIK3R1	Duplication (intron variant)	not specified	GBenign
Select item 1179700	NM_181523.3(PIK3R1):c.335-198C>G	PIK3R1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585249	NM_181523.3(PIK3R1):c.335-17G>T	PIK3R1	Single nucleotide variant (intron variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 2921939	NM_181523.3(PIK3R1):c.335-15T>G	PIK3R1	Single nucleotide variant (intron variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2942741	NM_181523.3(PIK3R1):c.335-3C>T	PIK3R1	Single nucleotide variant (intron variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1713680	NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)	PIK3R1 (T114I)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1436159	NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe)	PIK3R1 (L115F)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1047215	NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val)	PIK3R1 (L115V)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1162973	NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr)	PIK3R1 (P116T)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +3 more	GUncertain significance
Select item 855460	NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)	PIK3R1 (P116L)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 851179	NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 1637287	NM_181523.3(PIK3R1):c.351T>C (p.Asp117=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 1134274	NM_181523.3(PIK3R1):c.369C>A (p.Ala123=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2941515	NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)	PIK3R1 (P125R)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 2100975	NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)	PIK3R1 (D126N)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 2003051	NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)	PIK3R1 (P129L)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1105455	NM_181523.3(PIK3R1):c.387G>A (p.Pro129=)	PIK3R1	Single nucleotide variant (synonymous variant)	SHORT syndrome +2 more	GLikely benign
Select item 2434857	NM_181523.3(PIK3R1):c.397A>G (p.Ile133Val)	PIK3R1 (I133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117402	NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)	PIK3R1 (I133T)	Single nucleotide variant (missense variant)	Agammaglobulinemia 7, autosomal recessive +2 more	GUncertain significance
Select item 969295	NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met)	PIK3R1 (I133M)	Single nucleotide variant (missense variant)	Immunodeficiency 36 +2 more	GUncertain significance
Select item 1521478	NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe)	PIK3R1 (L135F)	Single nucleotide variant (missense variant)	SHORT syndrome +2 more	GUncertain significance
Select item 1579024	NM_181523.3(PIK3R1):c.405C>T (p.Leu135=)	PIK3R1	Single nucleotide variant (synonymous variant)	Immunodeficiency 36 +2 more	GLikely benign
Select item 1408501	NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu)	PIK3R1 (V136L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance

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