9649[HGNC] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 144835	GRCh38/hg38 2q21.1(chr2:130029216-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 144823	GRCh38/hg38 2q21.1(chr2:130029216-130414455)x3	CCDC115, CCDC74B +22 more	Copy number gain	See cases	GBenign
Select item 153715	GRCh38/hg38 2q21.1(chr2:130059752-130427257)x1	CCDC115, CCDC74B +22 more	Copy number loss	See cases	GUncertain significance
Select item 144836	GRCh38/hg38 2q21.1(chr2:130077004-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
Select item 2579260	GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1	CCDC115, CCDC74B +19 more	Copy number loss	Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies	GPathogenic
Select item 153676	GRCh38/hg38 2q21.1(chr2:130146886-130388116)x1	CCDC115, IMP4 +16 more	Copy number loss	See cases	GUncertain significance
Select item 3149147	NM_014369.4(PTPN18):c.7C>T (p.Arg3Cys)	LOC129934771, PTPN18 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361022	NM_014369.4(PTPN18):c.52C>T (p.Arg18Trp)	LOC129934771, PTPN18 (R18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149142	NM_014369.4(PTPN18):c.53G>A (p.Arg18Gln)	LOC129934771, PTPN18 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410349	NM_014369.4(PTPN18):c.53G>T (p.Arg18Leu)	LOC129934771, PTPN18 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311424	NM_014369.4(PTPN18):c.133G>C (p.Val45Leu)	PTPN18 (V45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149138	NM_014369.4(PTPN18):c.151G>A (p.Gly51Ser)	PTPN18 (G51S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232197	NM_014369.4(PTPN18):c.158G>A (p.Arg53Gln)	PTPN18 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360682	NM_014369.4(PTPN18):c.185A>G (p.Tyr62Cys)	PTPN18 (Y62C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214845	NM_014369.4(PTPN18):c.190G>C (p.Asp64His)	PTPN18 (D64H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149139	NM_014369.4(PTPN18):c.256T>C (p.Tyr86His)	PTPN18 (Y86H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311427	NM_014369.4(PTPN18):c.278G>C (p.Arg93Pro)	PTPN18 (R93P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297028	NM_014369.4(PTPN18):c.342C>G (p.Asp114Glu)	PTPN18 (D114E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149140	NM_014369.4(PTPN18):c.365T>G (p.Phe122Cys)	PTPN18 (F122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455675	NM_014369.4(PTPN18):c.413G>A (p.Arg138Gln)	PTPN18 (R138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403971	NM_014369.4(PTPN18):c.427C>T (p.Arg143Trp)	PTPN18 (R143W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311422	NM_014369.4(PTPN18):c.428G>A (p.Arg143Gln)	PTPN18 (R143Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308512	NM_014369.4(PTPN18):c.442G>C (p.Glu148Gln)	PTPN18 (E148Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149141	NM_014369.4(PTPN18):c.455T>G (p.Leu152Arg)	PTPN18 (L45R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317598	NM_014369.4(PTPN18):c.496T>C (p.Trp166Arg)	PTPN18 (W166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298758	NM_014369.4(PTPN18):c.512T>G (p.Ile171Ser)	PTPN18 (I171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149143	NM_014369.4(PTPN18):c.593G>A (p.Arg198His)	PTPN18 (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149144	NM_014369.4(PTPN18):c.622C>T (p.Leu208Phe)	PTPN18 (L208F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306622	NM_014369.4(PTPN18):c.630G>A (p.Met210Ile)	PTPN18 (M210I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321116	NM_014369.4(PTPN18):c.632T>G (p.Val211Gly)	PTPN18 (V211G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508187	NM_014369.4(PTPN18):c.661G>C (p.Gly221Arg)	PTPN18 (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149145	NM_014369.4(PTPN18):c.662G>A (p.Gly221Asp)	PTPN18 (G114D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291810	NM_014369.4(PTPN18):c.683A>G (p.His228Arg)	PTPN18 (H121R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357797	NM_014369.4(PTPN18):c.692C>T (p.Ala231Val)	PTPN18 (A124V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149146	NM_014369.4(PTPN18):c.778C>A (p.Leu260Ile)	PTPN18 (L153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311425	NM_014369.4(PTPN18):c.811C>T (p.Arg271Trp)	PTPN18 (R164W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208531	NM_014369.4(PTPN18):c.812G>A (p.Arg271Gln)	PTPN18 (R164Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311423	NM_014369.4(PTPN18):c.817G>A (p.Ala273Thr)	PTPN18 (A166T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149148	NM_014369.4(PTPN18):c.818C>T (p.Ala273Val)	PTPN18 (A273V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381209	NM_014369.4(PTPN18):c.841T>A (p.Tyr281Asn)	PTPN18 (Y281N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149149	NM_014369.4(PTPN18):c.860C>T (p.Thr287Met)	PTPN18 (T180M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347792	NM_014369.4(PTPN18):c.904C>G (p.His302Asp)	PTPN18 (H195D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395409	NM_014369.4(PTPN18):c.937C>G (p.Leu313Val)	PTPN18 (L206V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279771	NM_014369.4(PTPN18):c.943G>A (p.Asp315Asn)	PTPN18 (D208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226641	NM_014369.4(PTPN18):c.961C>T (p.Arg321Trp)	PTPN18 (R214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149150	NM_014369.4(PTPN18):c.987A>G (p.Ile329Met)	PTPN18 (I222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353597	NM_014369.4(PTPN18):c.992G>A (p.Arg331His)	PTPN18 (R224H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307476	NM_014369.4(PTPN18):c.1018A>G (p.Ile340Val)	PTPN18 (I233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364567	NM_014369.4(PTPN18):c.1028C>T (p.Pro343Leu)	PTPN18 (P236L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491491	NM_014369.4(PTPN18):c.1084G>A (p.Ala362Thr)	PTPN18 (A255T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380247	NM_014369.4(PTPN18):c.1096G>A (p.Ala366Thr)	PTPN18 (A366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528740	NM_014369.4(PTPN18):c.1124G>A (p.Gly375Glu)	PTPN18 (G375E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149134	NM_014369.4(PTPN18):c.1141C>T (p.Arg381Cys)	PTPN18 (R274C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524095	NM_014369.4(PTPN18):c.1157C>G (p.Ala386Gly)	PTPN18 (A279G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149135	NM_014369.4(PTPN18):c.1183C>G (p.Arg395Gly)	PTPN18 (R395G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149136	NM_014369.4(PTPN18):c.1264G>A (p.Gly422Arg)	PTPN18 (G422R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533630	NM_014369.4(PTPN18):c.1277A>G (p.Tyr426Cys)	PTPN18 (Y426C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149137	NM_014369.4(PTPN18):c.1327C>T (p.Arg443Cys)	PTPN18 (R336C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3024615	GRCh37/hg19 2q21.1(chr2:130817091-131143296)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684697	GRCh37/hg19 2q21.1(chr2:130817326-132099295)x1	AMER3, ARHGEF4 +16 more	Copy number loss	not provided	GUncertain significance
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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 689342	GRCh37/hg19 2q21.1(chr2:130825667-131215515)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688660	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 688128	GRCh37/hg19 2q21.1(chr2:130795738-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 687795	GRCh37/hg19 2q21.1(chr2:131041190-131159016)x3	CCDC115, IMP4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686988	GRCh37/hg19 2q21.1(chr2:130817325-131238042)x3	CCDC115, CCDC74B +7 more	Copy number gain	not provided	GUncertain significance
Select item 686688	GRCh37/hg19 2q21.1(chr2:130868379-131157859)x3	IMP4, MZT2B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686507	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 686134	GRCh37/hg19 2q21.1(chr2:130805260-131157859)x3	CCDC115, CCDC74B +6 more	Copy number gain	not provided	GUncertain significance
Select item 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	not provided	GUncertain significance
Select item 685386	GRCh37/hg19 2q21.1(chr2:130916858-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685028	GRCh37/hg19 2q21.1(chr2:130906186-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 684998	GRCh37/hg19 2q21.1(chr2:130817346-131157859)x1	CCDC115, CCDC74B +6 more	Copy number loss	not provided	GUncertain significance
Select item 684907	GRCh37/hg19 2q21.1(chr2:130904459-131157859)x1	CCDC115, IMP4 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562617	GRCh37/hg19 2q21.1(chr2:130874475-131765997)x1	TUBA3E, PTPN18 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 562516	GRCh37/hg19 2q21.1(chr2:131029777-131145689)x1	CCDC115, IMP4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443178	GRCh37/hg19 2q21.1-21.2(chr2:130920847-134220436)x3	AMER3, ARHGEF4 +23 more	Copy number gain	See cases	GUncertain significance
Select item 443063	GRCh37/hg19 2q21.1(chr2:130685932-131478005)x3	CCDC115, CCDC74B +11 more	Copy number gain	See cases	GUncertain significance
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 442675	GRCh37/hg19 2q21.1(chr2:130904460-131145689)x1	CCDC115, IMP4 +4 more	Copy number loss	See cases	GUncertain significance
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 395306	GRCh37/hg19 2q21.1(chr2:130877782-131132074)x3	PTPN18, TUBA3E +6 more	Copy number gain	See cases	GBenign
Select item 264675	NC_000002.11:g.(130939272_131096872)_(131116671_?)del	CCDC115, IMP4 +4 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Items: 94