5334[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 149123	GRCh38/hg38 2q33.1(chr2:197793546-198667205)x3	LINC01923, LOC108353821 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2286600	NM_006226.4(PLCL1):c.7G>C (p.Glu3Gln)	PLCL1 (E3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307398	NM_006226.4(PLCL1):c.41C>T (p.Pro14Leu)	PLCL1 (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405517	NM_006226.4(PLCL1):c.44A>C (p.Asp15Ala)	PLCL1 (D15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326341	NM_006226.4(PLCL1):c.49G>A (p.Ala17Thr)	PLCL1 (A17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529281	NM_006226.4(PLCL1):c.68C>T (p.Pro23Leu)	PLCL1 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375869	NM_006226.4(PLCL1):c.71G>A (p.Arg24Gln)	PLCL1 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329278	NM_006226.4(PLCL1):c.101T>A (p.Val34Glu)	PLCL1 (V34E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339329	NM_006226.4(PLCL1):c.107C>T (p.Ala36Val)	PLCL1 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470149	NM_006226.4(PLCL1):c.176C>T (p.Ala59Val)	PLCL1 (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58813	GRCh38/hg38 2q33.1(chr2:198024870-199489395)x1	LINC01923, LOC112806073 +8 more	Copy number loss	See cases	GPathogenic
Select item 2604427	NM_006226.4(PLCL1):c.402T>A (p.Phe134Leu)	PLCL1 (F134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271278	NM_006226.4(PLCL1):c.502C>G (p.Leu168Val)	PLCL1 (L168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272684	NM_006226.4(PLCL1):c.627T>A (p.Asp209Glu)	PLCL1 (D209E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214598	NM_006226.4(PLCL1):c.721T>C (p.Phe241Leu)	PLCL1 (F241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411668	NM_006226.4(PLCL1):c.733A>G (p.Lys245Glu)	PLCL1 (K245E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622655	NM_006226.4(PLCL1):c.775A>T (p.Met259Leu)	PLCL1 (M259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616576	NM_006226.4(PLCL1):c.805A>G (p.Lys269Glu)	PLCL1 (K269E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214599	NM_006226.4(PLCL1):c.820A>G (p.Thr274Ala)	PLCL1 (T274A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651798	NM_006226.4(PLCL1):c.833C>T (p.Ala278Val)	PLCL1 (A278V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2341218	NM_006226.4(PLCL1):c.890G>A (p.Arg297His)	PLCL1 (R297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523694	NM_006226.4(PLCL1):c.1009C>A (p.Leu337Ile)	PLCL1 (L337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364858	NM_006226.4(PLCL1):c.1037C>T (p.Thr346Ile)	PLCL1 (T346I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294814	NM_006226.4(PLCL1):c.1100G>A (p.Arg367His)	PLCL1 (R367H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214588	NM_006226.4(PLCL1):c.1136A>G (p.Gln379Arg)	PLCL1 (Q379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651799	NM_006226.4(PLCL1):c.1403T>A (p.Phe468Tyr)	PLCL1 (F468Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651800	NM_006226.4(PLCL1):c.1405C>A (p.Arg469=)	PLCL1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2493954	NM_006226.4(PLCL1):c.1405C>G (p.Arg469Gly)	PLCL1 (R469G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296137	NM_006226.4(PLCL1):c.1444G>T (p.Ala482Ser)	PLCL1 (A482S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214590	NM_006226.4(PLCL1):c.1634C>T (p.Pro545Leu)	PLCL1 (P545L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214591	NM_006226.4(PLCL1):c.1692G>A (p.Met564Ile)	PLCL1 (M564I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569452	NM_006226.4(PLCL1):c.1708G>A (p.Val570Ile)	PLCL1 (V570I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216036	NM_006226.4(PLCL1):c.1735A>G (p.Ile579Val)	PLCL1 (I579V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214592	NM_006226.4(PLCL1):c.1759G>A (p.Asp587Asn)	PLCL1 (D587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490157	NM_006226.4(PLCL1):c.1794G>C (p.Arg598Ser)	PLCL1 (R598S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245874	NM_006226.4(PLCL1):c.1887G>C (p.Glu629Asp)	PLCL1 (E629D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214593	NM_006226.4(PLCL1):c.1943G>A (p.Arg648Lys)	PLCL1 (R648K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489653	NM_006226.4(PLCL1):c.1945A>T (p.Ile649Phe)	PLCL1 (I649F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726945	NM_006226.4(PLCL1):c.1986T>C (p.Cys662=)	PLCL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3307396	NM_006226.4(PLCL1):c.2029A>G (p.Met677Val)	PLCL1 (M677V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257279	NM_006226.4(PLCL1):c.2030T>G (p.Met677Arg)	PLCL1 (M677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728220	NM_006226.4(PLCL1):c.2046G>T (p.Thr682=)	PLCL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256081	NM_006226.4(PLCL1):c.2179A>G (p.Ile727Val)	PLCL1 (I727V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219157	NM_006226.4(PLCL1):c.2210A>G (p.Lys737Arg)	PLCL1 (K737R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307399	NM_006226.4(PLCL1):c.2237T>A (p.Ile746Lys)	PLCL1 (I746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267432	NM_006226.4(PLCL1):c.2264A>G (p.His755Arg)	PLCL1 (H755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307401	NM_006226.4(PLCL1):c.2294G>T (p.Arg765Ile)	PLCL1 (R765I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539339	NM_006226.4(PLCL1):c.2533A>T (p.Ile845Leu)	PLCL1 (I845L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387981	NM_006226.4(PLCL1):c.2618C>G (p.Thr873Ser)	PLCL1 (T873S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214594	NM_006226.4(PLCL1):c.2650G>T (p.Asp884Tyr)	PLCL1 (D884Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651801	NM_006226.4(PLCL1):c.2689G>A (p.Ala897Thr)	PLCL1 (A897T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387982	NM_006226.4(PLCL1):c.2693T>C (p.Ile898Thr)	PLCL1 (I898T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307400	NM_006226.4(PLCL1):c.2696A>T (p.Asp899Val)	PLCL1 (D899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204642	NM_006226.4(PLCL1):c.2708A>G (p.Asn903Ser)	PLCL1 (N903S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372198	NM_006226.4(PLCL1):c.2722A>T (p.Ile908Phe)	PLCL1 (I908F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3307397	NM_006226.4(PLCL1):c.2813A>T (p.Asp938Val)	PLCL1 (D938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554265	NM_006226.4(PLCL1):c.2825C>T (p.Ser942Leu)	PLCL1 (S942L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519810	NM_006226.4(PLCL1):c.2840T>A (p.Met947Lys)	PLCL1 (M947K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316699	NM_006226.4(PLCL1):c.2841G>T (p.Met947Ile)	PLCL1 (M947I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651802	NM_006226.4(PLCL1):c.2919+8A>G	PLCL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2262873	NM_006226.4(PLCL1):c.2936G>A (p.Arg979Gln)	PLCL1 (R979Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775803	NM_006226.4(PLCL1):c.2955G>A (p.Ala985=)	PLCL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2472733	NM_006226.4(PLCL1):c.3020A>C (p.His1007Pro)	PLCL1 (H1007P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497706	NM_006226.4(PLCL1):c.3128A>G (p.Asn1043Ser)	PLCL1 (N1043S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214596	NM_006226.4(PLCL1):c.3208A>G (p.Ser1070Gly)	PLCL1 (S1070G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
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 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 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 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 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 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	PGAP1, PLCL1 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
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 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	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 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 687839	GRCh37/hg19 2q33.1(chr2:198659152-199561764)x3	PLCL1	Copy number gain	not provided	GUncertain significance
Select item 687824	GRCh37/hg19 2q33.1(chr2:198852970-201350417)x1	C2orf69, FTCDNL1 +5 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
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 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic

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