30849[Gene ID] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2406674	NM_014602.3(PIK3R4):c.4060G>A (p.Val1354Met)	PIK3R4 (V1354M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292763	NM_014602.3(PIK3R4):c.4039A>G (p.Thr1347Ala)	PIK3R4 (T1347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213010	NM_014602.3(PIK3R4):c.3974C>T (p.Pro1325Leu)	PIK3R4 (P1325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323266	NM_014602.3(PIK3R4):c.3872A>G (p.Tyr1291Cys)	PIK3R4 (Y1291C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654145	NM_014602.3(PIK3R4):c.3818C>G (p.Pro1273Arg)	PIK3R4 (P1273R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267245	NM_014602.3(PIK3R4):c.3811G>T (p.Ala1271Ser)	PIK3R4 (A1271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328509	NM_014602.3(PIK3R4):c.3671T>G (p.Leu1224Arg)	PIK3R4	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397904	NM_014602.3(PIK3R4):c.3615G>T (p.Gln1205His)	PIK3R4 (Q1205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213008	NM_014602.3(PIK3R4):c.3591G>T (p.Gln1197His)	PIK3R4 (Q1197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213007	NM_014602.3(PIK3R4):c.3577C>T (p.His1193Tyr)	PIK3R4 (H1193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592493	NM_014602.3(PIK3R4):c.3574A>G (p.Met1192Val)	PIK3R4 (M1192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213006	NM_014602.3(PIK3R4):c.3419A>T (p.Lys1140Met)	PIK3R4 (K1140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559449	NM_014602.3(PIK3R4):c.3404T>C (p.Leu1135Ser)	PIK3R4 (L1135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401292	NM_014602.3(PIK3R4):c.3298G>A (p.Asp1100Asn)	PIK3R4 (D1100N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741903	NM_014602.3(PIK3R4):c.3285C>T (p.Asp1095=)	PIK3R4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3213005	NM_014602.3(PIK3R4):c.3196G>C (p.Val1066Leu)	PIK3R4 (V1066L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377880	NM_014602.3(PIK3R4):c.3164A>T (p.His1055Leu)	PIK3R4 (H1055L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231491	NM_014602.3(PIK3R4):c.3158G>T (p.Gly1053Val)	PIK3R4 (G1053V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739849	NM_014602.3(PIK3R4):c.3103A>G (p.Ile1035Val)	PIK3R4 (I1035V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720180	NM_014602.3(PIK3R4):c.3073A>T (p.Met1025Leu)	PIK3R4 (M1025L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2237231	NM_014602.3(PIK3R4):c.3025G>A (p.Ala1009Thr)	PIK3R4 (A1009T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272267	NM_014602.3(PIK3R4):c.2986G>A (p.Val996Met)	PIK3R4 (V996M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213004	NM_014602.3(PIK3R4):c.2939G>A (p.Arg980His)	PIK3R4 (R980H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560047	NM_014602.3(PIK3R4):c.2929C>A (p.Pro977Thr)	PIK3R4 (P977T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305161	NM_014602.3(PIK3R4):c.2855G>A (p.Arg952Gln)	PIK3R4 (R952Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512791	NM_014602.3(PIK3R4):c.2765C>T (p.Pro922Leu)	PIK3R4 (P922L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213003	NM_014602.3(PIK3R4):c.2678A>G (p.Glu893Gly)	PIK3R4 (E893G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213002	NM_014602.3(PIK3R4):c.2677G>A (p.Glu893Lys)	PIK3R4 (E893K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213001	NM_014602.3(PIK3R4):c.2672G>A (p.Arg891His)	PIK3R4 (R891H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275581	NM_014602.3(PIK3R4):c.2635A>G (p.Ser879Gly)	PIK3R4 (S879G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360245	NM_014602.3(PIK3R4):c.2627C>T (p.Pro876Leu)	PIK3R4 (P876L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213000	NM_014602.3(PIK3R4):c.2620G>T (p.Ala874Ser)	PIK3R4 (A874S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262571	NM_014602.3(PIK3R4):c.2553A>T (p.Gln851His)	PIK3R4 (Q851H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212999	NM_014602.3(PIK3R4):c.2537G>C (p.Arg846Thr)	PIK3R4 (R846T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787975	NM_014602.3(PIK3R4):c.2128-3T>C	PIK3R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778288	NM_014602.3(PIK3R4):c.2095C>G (p.Leu699Val)	PIK3R4 (L699V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3212997	NM_014602.3(PIK3R4):c.2014C>T (p.Arg672Cys)	PIK3R4 (R672C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248713	NM_014602.3(PIK3R4):c.1832A>G (p.Gln611Arg)	PIK3R4 (Q611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212996	NM_014602.3(PIK3R4):c.1688G>A (p.Arg563Gln)	PIK3R4 (R563Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335377	NM_014602.3(PIK3R4):c.1674A>C (p.Glu558Asp)	PIK3R4 (E558D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212995	NM_014602.3(PIK3R4):c.1530C>A (p.Asp510Glu)	PIK3R4 (D510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454629	NM_014602.3(PIK3R4):c.1498G>C (p.Val500Leu)	PIK3R4 (V500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212994	NM_014602.3(PIK3R4):c.1485A>T (p.Arg495Ser)	PIK3R4 (R495S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718402	NM_014602.3(PIK3R4):c.1451-10T>C	PIK3R4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654146	NM_014602.3(PIK3R4):c.1413C>T (p.Ala471=)	PIK3R4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770350	NM_014602.3(PIK3R4):c.1342G>A (p.Val448Ile)	PIK3R4 (V448I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3212993	NM_014602.3(PIK3R4):c.1297G>A (p.Val433Met)	PIK3R4 (V433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654147	NM_014602.3(PIK3R4):c.1271A>G (p.His424Arg)	PIK3R4 (H424R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2294032	NM_014602.3(PIK3R4):c.1228A>G (p.Ser410Gly)	PIK3R4 (S410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222216	NM_014602.3(PIK3R4):c.1118A>T (p.Asn373Ile)	PIK3R4 (N373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212992	NM_014602.3(PIK3R4):c.1064A>C (p.His355Pro)	PIK3R4 (H355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718313	NM_014602.3(PIK3R4):c.1039C>T (p.Arg347Trp)	PIK3R4 (R347W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2264091	NM_014602.3(PIK3R4):c.943G>C (p.Ala315Pro)	PIK3R4 (A315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213012	NM_014602.3(PIK3R4):c.926A>C (p.Lys309Thr)	PIK3R4 (K309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368513	NM_014602.3(PIK3R4):c.887G>A (p.Arg296His)	PIK3R4 (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205772	NM_014602.3(PIK3R4):c.868G>A (p.Val290Ile)	PIK3R4 (V290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246306	NM_014602.3(PIK3R4):c.479A>G (p.Asn160Ser)	PIK3R4 (N160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213011	NM_014602.3(PIK3R4):c.424T>G (p.Ser142Ala)	PIK3R4 (S142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213009	NM_014602.3(PIK3R4):c.368T>C (p.Ile123Thr)	PIK3R4 (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619102	NM_014602.3(PIK3R4):c.349C>T (p.Arg117Cys)	PIK3R4 (R117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709754	NM_014602.3(PIK3R4):c.339C>T (p.Arg113=)	PIK3R4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541798	NM_014602.3(PIK3R4):c.307A>G (p.Arg103Gly)	PIK3R4 (R103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212998	NM_014602.3(PIK3R4):c.229A>G (p.Arg77Gly)	PIK3R4 (R77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980055	GRCh37/hg19 3q22.1(chr3:129946771-130672255)x3	PIK3R4, COL6A5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 77