90557[Gene ID] - ClinVar

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Items: 82

	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 148042	GRCh38/hg38 2q21.1(chr2:130743933-131549753)x1	AMER3, ARHGEF4 +24 more	Copy number loss	See cases	GUncertain significance
Select item 152948	GRCh38/hg38 2q21.1-21.2(chr2:131100857-132436431)x3	ANKRD30BL, CCDC74A +32 more	Copy number gain	See cases	GUncertain significance
Select item 154056	GRCh38/hg38 2q21.1-21.2(chr2:131291207-132406186)x3	ANKRD30BL, CCDC74A +24 more	Copy number gain	See cases	GLikely benign
Select item 152224	GRCh38/hg38 2q21.1(chr2:131337384-131619715)x1	CCDC74A, LINC01120 +10 more	Copy number loss	See cases	GLikely benign
Select item 150362	GRCh38/hg38 2q21.1(chr2:131337384-131605323)x1	CCDC74A, LINC01120 +10 more	Copy number loss	See cases	GLikely benign
Select item 150720	GRCh38/hg38 2q21.1(chr2:131340404-131643336)x1	CCDC74A, LINC01087 +11 more	Copy number loss	See cases	GLikely benign
Select item 151118	GRCh38/hg38 2q21.1-21.2(chr2:131409034-131940119)x1	CDRT15P3, LINC01087 +14 more	Copy number loss	See cases	GUncertain significance
Select item 150449	GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x1	CCDC74A, LINC01087 +13 more	Copy number loss	See cases	GLikely benign
Select item 150443	GRCh38/hg38 2q21.1-21.2(chr2:131451345-131736366)x3	CCDC74A, LINC01087 +13 more	Copy number gain	See cases	GLikely benign
Select item 3139367	NM_001258306.3(CCDC74A):c.14G>A (p.Gly5Glu)	CCDC74A (G5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516536	NM_001258306.3(CCDC74A):c.25G>A (p.Gly9Arg)	CCDC74A (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532305	NM_001258306.3(CCDC74A):c.29C>T (p.Thr10Met)	CCDC74A (T10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525741	NM_001258306.3(CCDC74A):c.34C>T (p.Pro12Ser)	CCDC74A (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283048	NM_001258306.3(CCDC74A):c.35C>G (p.Pro12Arg)	CCDC74A (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407873	NM_001258306.3(CCDC74A):c.50C>T (p.Thr17Ile)	CCDC74A (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264297	NM_001258306.3(CCDC74A):c.71G>A (p.Arg24His)	CCDC74A, LOC129934785 (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139374	NM_001258306.3(CCDC74A):c.76C>T (p.Arg26Cys)	CCDC74A, LOC129934785 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264296	NM_001258306.3(CCDC74A):c.80C>G (p.Pro27Arg)	CCDC74A, LOC129934785 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216513	NM_001258306.3(CCDC74A):c.83C>T (p.Ser28Phe)	CCDC74A, LOC129934785 (S28F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484731	NM_001258306.3(CCDC74A):c.89G>C (p.Gly30Ala)	CCDC74A, LOC129934785 (G30A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600278	NM_001258306.3(CCDC74A):c.132C>G (p.Ser44Arg)	CCDC74A (S44R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139368	NM_001258306.3(CCDC74A):c.177C>G (p.Phe59Leu)	CCDC74A (F59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399284	NM_001258306.3(CCDC74A):c.225C>G (p.Ile75Met)	CCDC74A (I75M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588227	NM_001258306.3(CCDC74A):c.233T>G (p.Leu78Arg)	CCDC74A (L78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386640	NM_001258306.3(CCDC74A):c.241G>A (p.Glu81Lys)	CCDC74A (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219028	NM_001258306.3(CCDC74A):c.257A>G (p.His86Arg)	CCDC74A (H86R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278726	NM_001258306.3(CCDC74A):c.296-177T>C	CCDC74A (L106P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139369	NM_001258306.3(CCDC74A):c.296-154G>A	CCDC74A (G114S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139370	NM_001258306.3(CCDC74A):c.296-121G>C	CCDC74A (V167L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598783	NM_001258306.3(CCDC74A):c.296-114C>T	CCDC74A (P127L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139371	NM_001258306.3(CCDC74A):c.296-31G>A	CCDC74A (G155S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139372	NM_001258306.3(CCDC74A):c.296-25G>A	CCDC74A (A199T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2540691	NM_001258306.3(CCDC74A):c.296-7C>T	CCDC74A (P163S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528719	NM_001258306.3(CCDC74A):c.301C>T (p.Leu101Phe)	CCDC74A (L101F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264295	NM_001258306.3(CCDC74A):c.309G>A (p.Met103Ile)	CCDC74A (M145I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222013	NM_001258306.3(CCDC74A):c.467G>C (p.Gly156Ala)	CCDC74A (G156A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139373	NM_001258306.3(CCDC74A):c.489G>C (p.Lys163Asn)	CCDC74A (K229N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476081	NM_001258306.3(CCDC74A):c.499G>C (p.Glu167Gln)	CCDC74A (E275Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345418	NM_001258306.3(CCDC74A):c.566G>C (p.Gly189Ala)	CCDC74A (G189A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389516	NM_001258306.3(CCDC74A):c.628G>A (p.Glu210Lys)	CCDC74A (E276K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259240	NM_001258306.3(CCDC74A):c.640C>T (p.Arg214Cys)	CCDC74A (R214C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3139376	NM_001258306.3(CCDC74A):c.766A>C (p.Thr256Pro)	CCDC74A (T364P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139377	NM_001258306.3(CCDC74A):c.770A>G (p.His257Arg)	CCDC74A (I193V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139378	NM_001258306.3(CCDC74A):c.781G>T (p.Val261Phe)	CCDC74A (R196S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330418	NM_001258306.3(CCDC74A):c.792G>C (p.Lys264Asn)	CCDC74A (K372N +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230253	NM_001258306.3(CCDC74A):c.799T>G (p.Ser267Ala)	CCDC74A (S375A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139362	NM_001258306.3(CCDC74A):c.802A>G (p.Lys268Glu)	CCDC74A (K268E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258961	NM_001258306.3(CCDC74A):c.830A>T (p.Glu277Val)	CCDC74A (E277V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352915	NM_001258306.3(CCDC74A):c.832C>T (p.Arg278Cys)	CCDC74A (R386C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139363	NM_001258306.3(CCDC74A):c.836C>T (p.Ala279Val)	CCDC74A (A321V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347715	NM_001258306.3(CCDC74A):c.844C>T (p.Pro282Ser)	CCDC74A (P324S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139364	NM_001258306.3(CCDC74A):c.847G>A (p.Ala283Thr)	CCDC74A (A325T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622957	NM_001258306.3(CCDC74A):c.851T>C (p.Leu284Pro)	CCDC74A (L350P +4 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2651376	NM_001258306.3(CCDC74A):c.891G>A (p.Lys297=)	CCDC74A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2262956	NM_001258306.3(CCDC74A):c.902C>T (p.Ala301Val)	CCDC74A (A343V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139365	NM_001258306.3(CCDC74A):c.911A>C (p.Lys304Thr)	CCDC74A (K346T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139366	NM_001258306.3(CCDC74A):c.914G>A (p.Arg305Gln)	CCDC74A (R305Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383044	NM_001258306.3(CCDC74A):c.917G>A (p.Arg306His)	CCDC74A (R369H +4 more)	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 2684708	GRCh37/hg19 2q21.1-21.2(chr2:131777624-134871884)x1	ARHGEF4, CCDC74A +11 more	Copy number loss	not provided	GUncertain significance
Select item 1807594	GRCh37/hg19 2q21.1-21.2(chr2:132058665-133163759)x3	C2orf27A, CCDC74A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1710918	GRCh37/hg19 2q21.1-21.2(chr2:131853044-133195255)x3	C2orf27A, CCDC74A +7 more	Copy number gain	See cases	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 685771	GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)x3	AMER3, IMP4 +23 more	Copy number gain	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 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 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 395355	GRCh37/hg19 2q21.1-21.2(chr2:132290940-132515623)x3	CCDC74A, LINC03124	Copy number gain	See cases	GBenign
Select item 395345	GRCh37/hg19 2q21.1-21.2(chr2:132290940-132508293)x3	CCDC74A, LINC03124	Copy number gain	See cases	GBenign/Likely benign
Select item 395308	GRCh37/hg19 2q21.1-21.2(chr2:132287932-132508293)x3	CCDC74A, LINC03124	Copy number gain	See cases	GBenign
Select item 394058	GRCh37/hg19 2q21.1-21.2(chr2:132287932-132558490)x3	CCDC74A, CDRT15P3 +1 more	Copy number gain	See cases	GBenign
Select item 393884	GRCh37/hg19 2q21.1(chr2:132238316-132290940)x3	CCDC74A, MZT2A +1 more	Copy number gain	See cases	GBenign
Select item 393531	GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3	CCDC74A, MZT2A +1 more	Copy number gain	VATER association	GLikely benign

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Items: 82