ClinVar for Gene (Select 117583) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689653	NM_001302769.2(PARD3B):c.1222G>A (p.Gly408Ser)	PARD3B (G408S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689652	NM_001302769.2(PARD3B):c.1693G>A (p.Glu565Lys)	PARD3B (E503K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689651	NM_001302769.2(PARD3B):c.608C>A (p.Thr203Lys)	PARD3B (T203K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634087	NM_001302769.2(PARD3B):c.2473G>A (p.Glu825Lys)	PARD3B (E756K +2 more)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GUncertain significance
Select item 2631702	NM_001302769.2(PARD3B):c.1610C>A (p.Ala537Asp)	PARD3B (A537D)	Single nucleotide variant (missense variant +1 more)	PARD3B-related disorder	GUncertain significance
Select item 2630340	NM_001302769.2(PARD3B):c.680+1_680+3dup	PARD3B	Duplication (splice donor variant)	PARD3B-related disorder	GUncertain significance
Select item 2629011	NM_001302769.2(PARD3B):c.1882C>A (p.Leu628Met)	PARD3B (L566M +1 more)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GUncertain significance
Select item 2623992	NM_001302769.2(PARD3B):c.2476G>A (p.Asp826Asn)	PARD3B (D757N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613327	NM_001302769.2(PARD3B):c.3194G>A (p.Gly1065Asp)	PARD3B (G1065D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602117	NM_001302769.2(PARD3B):c.3247G>A (p.Ala1083Thr)	PARD3B (A1014T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597154	NM_001302769.2(PARD3B):c.263T>C (p.Ile88Thr)	PARD3B (I88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591088	NM_001302769.2(PARD3B):c.2601A>G (p.Ile867Met)	PARD3B (I798M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2570141	NM_001302769.2(PARD3B):c.1333A>G (p.Thr445Ala)	PARD3B (T445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558779	NM_001302769.2(PARD3B):c.2566C>A (p.Arg856Ser)	PARD3B (R787S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520877	NM_001302769.2(PARD3B):c.3278C>T (p.Pro1093Leu)	PARD3B (P1031L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513635	NM_001302769.2(PARD3B):c.3089G>A (p.Arg1030Gln)	PARD3B (R1030Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484772	NM_001302769.2(PARD3B):c.1640A>G (p.Asn547Ser)	PARD3B (N547S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475237	NM_001302769.2(PARD3B):c.821T>C (p.Phe274Ser)	PARD3B (F274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463102	NM_001302769.2(PARD3B):c.748G>A (p.Glu250Lys)	PARD3B (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461474	NM_001302769.2(PARD3B):c.2921C>T (p.Pro974Leu)	PARD3B (P974L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458233	NM_001302769.2(PARD3B):c.1097C>T (p.Ser366Leu)	PARD3B (S366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456352	NM_001302769.2(PARD3B):c.3437C>T (p.Pro1146Leu)	PARD3B (P1146L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412300	NM_001302769.2(PARD3B):c.2950C>T (p.Arg984Trp)	PARD3B (R984W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410763	NM_001302769.2(PARD3B):c.1331G>A (p.Arg444Gln)	PARD3B (R444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407093	NM_001302769.2(PARD3B):c.3221G>A (p.Arg1074His)	PARD3B (R1012H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406534	NM_001302769.2(PARD3B):c.1061G>A (p.Arg354Gln)	PARD3B (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382697	NM_001302769.2(PARD3B):c.787G>A (p.Val263Ile)	PARD3B (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380781	NM_001302769.2(PARD3B):c.733G>A (p.Glu245Lys)	PARD3B (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374015	NM_001302769.2(PARD3B):c.1721T>C (p.Met574Thr)	PARD3B (M512T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362363	NM_001302769.2(PARD3B):c.3598C>G (p.Pro1200Ala)	PARD3B (P1131A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357667	NM_001302769.2(PARD3B):c.2844A>C (p.Glu948Asp)	PARD3B (E948D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353595	NM_001302769.2(PARD3B):c.2567G>T (p.Arg856Leu)	PARD3B (R787L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351142	NM_001302769.2(PARD3B):c.463G>A (p.Ala155Thr)	PARD3B (A155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348382	NM_001302769.2(PARD3B):c.1634G>A (p.Arg545Gln)	PARD3B (R483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346586	NM_001302769.2(PARD3B):c.3220C>T (p.Arg1074Cys)	PARD3B (R1005C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342405	NM_001302769.2(PARD3B):c.2452C>T (p.Pro818Ser)	PARD3B (P749S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339171	NM_001302769.2(PARD3B):c.2980G>C (p.Asp994His)	PARD3B (D994H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337893	NM_001302769.2(PARD3B):c.1399G>A (p.Ala467Thr)	PARD3B (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333640	NM_001302769.2(PARD3B):c.1672C>T (p.Leu558Phe)	PARD3B (L558F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331672	NM_001302769.2(PARD3B):c.1381A>G (p.Thr461Ala)	PARD3B (T461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326142	NM_001302769.2(PARD3B):c.842C>A (p.Pro281Gln)	PARD3B (P281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325149	NM_001302769.2(PARD3B):c.795A>C (p.Lys265Asn)	PARD3B (K265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323891	NM_001302769.2(PARD3B):c.615G>T (p.Glu205Asp)	PARD3B (E205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317088	NM_001302769.2(PARD3B):c.2382A>C (p.Glu794Asp)	PARD3B (E794D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316101	NM_001302769.2(PARD3B):c.2879G>A (p.Arg960Gln)	PARD3B (R960Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311580	NM_001302769.2(PARD3B):c.3280G>A (p.Val1094Ile)	PARD3B (V1094I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310698	NM_001302769.2(PARD3B):c.884A>G (p.Gln295Arg)	PARD3B (Q295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306918	NM_001302769.2(PARD3B):c.2539G>A (p.Gly847Ser)	PARD3B (G785S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296225	NM_001302769.2(PARD3B):c.2569A>C (p.Lys857Gln)	PARD3B (K857Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294903	NM_001302769.2(PARD3B):c.859G>A (p.Val287Met)	PARD3B (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289939	NM_001302769.2(PARD3B):c.3472G>C (p.Asp1158His)	PARD3B (D1158H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285369	NM_001302769.2(PARD3B):c.1163A>G (p.Lys388Arg)	PARD3B (K388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283591	NM_001302769.2(PARD3B):c.1699A>T (p.Met567Leu)	PARD3B (M505L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280077	NM_001302769.2(PARD3B):c.2660G>T (p.Gly887Val)	PARD3B (G818V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277968	NM_001302769.2(PARD3B):c.3265G>C (p.Gly1089Arg)	PARD3B (G1027R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274140	NM_001302769.2(PARD3B):c.332A>G (p.Gln111Arg)	PARD3B (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271705	NM_001302769.2(PARD3B):c.950A>T (p.Lys317Ile)	PARD3B (K317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269085	NM_001302769.2(PARD3B):c.952G>T (p.Val318Leu)	PARD3B (V318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265877	NM_001302769.2(PARD3B):c.886T>G (p.Tyr296Asp)	PARD3B (Y296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263100	NM_001302769.2(PARD3B):c.3211C>T (p.His1071Tyr)	PARD3B (H970Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250885	NM_001302769.2(PARD3B):c.377C>T (p.Pro126Leu)	PARD3B (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249460	NM_001302769.2(PARD3B):c.512C>T (p.Thr171Met)	PARD3B (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248096	NM_001302769.2(PARD3B):c.145C>G (p.His49Asp)	PARD3B (H49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232464	NM_001302769.2(PARD3B):c.379T>A (p.Ser127Thr)	PARD3B (S127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213287	NM_001302769.2(PARD3B):c.745C>T (p.His249Tyr)	PARD3B (H249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210163	NM_001302769.2(PARD3B):c.3142G>A (p.Glu1048Lys)	PARD3B (E947K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205599	NM_001302769.2(PARD3B):c.1225C>T (p.Pro409Ser)	PARD3B (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809222	GRCh37/hg19 2q33.3(chr2:205519999-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 1808985	GRCh37/hg19 2q33.3(chr2:205519961-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 994315	NM_001302769.2(PARD3B):c.3574A>T (p.Thr1192Ser)	PARD3B (T1091S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 994314	NM_001302769.2(PARD3B):c.3457G>C (p.Gly1153Arg)	PARD3B (G1052R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994311	NM_001302769.2(PARD3B):c.3042C>T (p.Asp1014=)	PARD3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 783350	NM_001302769.2(PARD3B):c.150C>T (p.His50=)	PARD3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688069	GRCh37/hg19 2q33.2-33.3(chr2:204858354-205794074)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 686439	GRCh37/hg19 2q33.3(chr2:205800577-206805019)x3	NRP2, PARD3B	Copy number gain	not provided	GUncertain significance
Select item 686218	GRCh37/hg19 2q33.3(chr2:205519998-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 686215	GRCh37/hg19 2q33.3(chr2:205519998-205638704)x1	PARD3B	Copy number loss	not provided	GUncertain significance
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 562632	GRCh37/hg19 2q33.3(chr2:205758734-206958189)x3	NRP2, INO80D +1 more	Copy number gain	not provided	GLikely benign
Select item 545255	NC_000002.12:g.(?_205264941)_(205497509_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic
Select item 545254	NC_000002.12:g.(?_205102232)_(205198713_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442231	GRCh37/hg19 2q33.3(chr2:205801070-206805019)x3	NRP2, PARD3B	Copy number gain	See cases	GLikely benign

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