ClinVar for Gene (Select 92856) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109552	NM_033416.3(IMP4):c.776G>A (p.Arg259His)	IMP4 (R171H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109551	NM_033416.3(IMP4):c.736G>A (p.Glu246Lys)	IMP4 (E158K +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109550	NM_033416.3(IMP4):c.473C>T (p.Pro158Leu)	IMP4 (P156L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109549	NM_033416.3(IMP4):c.310C>G (p.Leu104Val)	IMP4 (L102V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109548	NM_033416.3(IMP4):c.140G>A (p.Arg47His)	IMP4 (R47H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109547	NM_033416.3(IMP4):c.119G>A (p.Arg40His)	IMP4 (R40H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109546	NM_033416.3(IMP4):c.116A>G (p.Asn39Ser)	IMP4 (N39S)	Single nucleotide variant (missense variant +1 more)	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 2616118	NM_033416.3(IMP4):c.452T>C (p.Val151Ala)	IMP4 (V149A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607536	NM_033416.3(IMP4):c.647G>A (p.Arg216Gln)	IMP4 (R214Q +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2552809	NM_033416.3(IMP4):c.820C>T (p.Arg274Cys)	IMP4 (R189C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531236	NM_033416.3(IMP4):c.748C>T (p.Arg250Cys)	IMP4 (R195C +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493737	NM_033416.3(IMP4):c.403G>C (p.Asp135His)	IMP4 (D117H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487569	NM_033416.3(IMP4):c.62C>T (p.Ala21Val)	IMP4 (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399467	NM_033416.3(IMP4):c.507G>A (p.Met169Ile)	IMP4 (M167I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363038	NM_033416.3(IMP4):c.377G>A (p.Arg126Gln)	IMP4 (R125Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351616	NM_033416.3(IMP4):c.326C>T (p.Pro109Leu)	IMP4 (P109L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317007	NM_033416.3(IMP4):c.715C>G (p.His239Asp)	IMP4 (H182D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301457	NM_033416.3(IMP4):c.739G>A (p.Val247Ile)	IMP4 (V229I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268013	NM_033416.3(IMP4):c.823T>C (p.Trp275Arg)	IMP4 (W187R +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246337	NM_033416.3(IMP4):c.639C>G (p.Asp213Glu)	IMP4 (D156E +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233860	NM_033416.3(IMP4):c.749G>A (p.Arg250His)	IMP4 (R165H +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227812	NM_033416.3(IMP4):c.143G>A (p.Arg48Gln)	IMP4 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214554	NM_033416.3(IMP4):c.451G>A (p.Val151Ile)	IMP4 (V151I +6 more)	Single nucleotide variant (missense variant)	not specified	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 1074572	NC_000002.11:g.(?_131098481)_(131104041_?)del	CCDC115, IMP4	Deletion	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 427823	Multiple alleles			Congenital disorders of glycosylation type II	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	SMPD4, CCDC115 +4 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 153715	GRCh38/hg38 2q21.1(chr2:130059752-130427257)x1	CCDC115, CCDC74B +22 more	Copy number loss	See cases	GUncertain significance
Select item 153676	GRCh38/hg38 2q21.1(chr2:130146886-130388116)x1	CCDC115, IMP4 +16 more	Copy number loss	See cases	GUncertain significance
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 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 144836	GRCh38/hg38 2q21.1(chr2:130077004-130465575)x3	CCDC115, CCDC74B +23 more	Copy number gain	See cases	GBenign
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 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 67