13266[HGNC] - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 2466826	NM_020414.4(DDX24):c.2504A>G (p.Lys835Arg)	DDX24 (K835R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245113	NM_020414.4(DDX24):c.2494T>C (p.Cys832Arg)	DDX24 (C832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592720	NM_020414.4(DDX24):c.2479G>A (p.Glu827Lys)	DDX24 (E827K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080954	NM_020414.4(DDX24):c.2436G>C (p.Gln812His)	DDX24 (Q812H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271276	NM_020414.4(DDX24):c.2431A>G (p.Thr811Ala)	DDX24 (T811A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495227	NM_020414.4(DDX24):c.2405C>T (p.Thr802Met)	DDX24 (T802M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271281	NM_020414.4(DDX24):c.2386C>G (p.Leu796Val)	DDX24 (L796V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080953	NM_020414.4(DDX24):c.2377C>T (p.Arg793Cys)	DDX24 (R793C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233649	NM_020414.4(DDX24):c.2198G>A (p.Arg733Gln)	DDX24 (R733Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554375	NM_020414.4(DDX24):c.2068C>T (p.Leu690Phe)	DDX24 (L690F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493536	NM_020414.4(DDX24):c.2021G>A (p.Arg674Gln)	DDX24 (R674Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080952	NM_020414.4(DDX24):c.1996C>T (p.Arg666Cys)	DDX24 (R666C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080950	NM_020414.4(DDX24):c.1828C>G (p.Leu610Val)	DDX24, LOC126862030 (L610V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333893	NM_020414.4(DDX24):c.1765C>T (p.Arg589Cys)	DDX24, LOC126862030 (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271280	NM_020414.4(DDX24):c.1738T>A (p.Tyr580Asn)	DDX24, LOC126862030 (Y580N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528882	NM_020414.4(DDX24):c.1667A>G (p.Asn556Ser)	DDX24, LOC126862030 (N556S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481480	NM_020414.4(DDX24):c.1547C>T (p.Ala516Val)	DDX24, LOC126862030 (A516V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243491	NM_020414.4(DDX24):c.1538T>A (p.Val513Glu)	DDX24, LOC126862030 (V513E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352748	NM_020414.4(DDX24):c.1472T>C (p.Met491Thr)	DDX24, LOC126862030 (M491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470596	NM_020414.4(DDX24):c.1453C>T (p.Leu485Phe)	DDX24, LOC126862030 (L485F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229236	NM_020414.4(DDX24):c.1387C>T (p.Arg463Trp)	DDX24, LOC126862030 (R463W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394381	NM_020414.4(DDX24):c.1340G>A (p.Arg447Gln)	DDX24, LOC126862030 (R447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080948	NM_020414.4(DDX24):c.1339C>T (p.Arg447Trp)	DDX24, LOC126862030 (R447W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457940	NM_020414.4(DDX24):c.1309C>T (p.Arg437Cys)	DDX24, LOC126862030 (R437C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080947	NM_020414.4(DDX24):c.1256C>T (p.Ala419Val)	DDX24, LOC126862030 (A419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325437	NM_020414.4(DDX24):c.1253C>T (p.Thr418Ile)	DDX24, LOC126862030 (T418I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369700	NM_020414.4(DDX24):c.1222G>A (p.Asp408Asn)	DDX24 (D408N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471013	NM_020414.4(DDX24):c.1147T>C (p.Tyr383His)	DDX24 (Y383H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343327	NM_020414.4(DDX24):c.1132G>A (p.Ala378Thr)	DDX24 (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492422	NM_020414.4(DDX24):c.1111C>A (p.Gln371Lys)	DDX24 (Q371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239447	NM_020414.4(DDX24):c.1103A>C (p.Asn368Thr)	DDX24 (N368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359753	NM_020414.4(DDX24):c.1058A>G (p.Gln353Arg)	DDX24 (Q353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540241	NM_020414.4(DDX24):c.1035C>G (p.Ile345Met)	DDX24 (I345M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471735	NM_020414.4(DDX24):c.1033A>G (p.Ile345Val)	DDX24 (I345V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360463	NM_020414.4(DDX24):c.1003G>A (p.Asp335Asn)	DDX24 (D335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483341	NM_020414.4(DDX24):c.995T>G (p.Phe332Cys)	DDX24 (F332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080958	NM_020414.4(DDX24):c.989T>G (p.Leu330Trp)	DDX24 (L330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598424	NM_020414.4(DDX24):c.962C>G (p.Thr321Ser)	DDX24 (T321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392346	NM_020414.4(DDX24):c.941C>T (p.Ala314Val)	DDX24 (A314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080957	NM_020414.4(DDX24):c.875A>C (p.Glu292Ala)	DDX24 (E292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278493	NM_020414.4(DDX24):c.845G>C (p.Gly282Ala)	DDX24 (G282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535068	NM_020414.4(DDX24):c.809C>T (p.Thr270Ile)	DDX24 (T270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375209	NM_020414.4(DDX24):c.751A>G (p.Met251Val)	DDX24 (M251V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472113	NM_020414.4(DDX24):c.682C>G (p.Arg228Gly)	DDX24 (R228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271282	NM_020414.4(DDX24):c.679A>C (p.Ile227Leu)	DDX24 (I227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538844	NM_020414.4(DDX24):c.665C>T (p.Thr222Ile)	DDX24 (T222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253881	NM_020414.4(DDX24):c.665C>G (p.Thr222Ser)	DDX24 (T222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227077	NM_020414.4(DDX24):c.524A>G (p.Lys175Arg)	DDX24 (K175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600097	NM_020414.4(DDX24):c.438C>A (p.Asn146Lys)	DDX24 (N146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080955	NM_020414.4(DDX24):c.426G>A (p.Met142Ile)	DDX24 (M142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545706	NM_020414.4(DDX24):c.394A>G (p.Met132Val)	DDX24 (M132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528883	NM_020414.4(DDX24):c.386G>A (p.Gly129Glu)	DDX24 (G129E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271279	NM_020414.4(DDX24):c.383A>G (p.Gln128Arg)	DDX24 (Q128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368473	NM_020414.4(DDX24):c.347A>G (p.Lys116Arg)	DDX24 (K116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271278	NM_020414.4(DDX24):c.298A>C (p.Lys100Gln)	DDX24 (K100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403717	NM_020414.4(DDX24):c.275C>G (p.Ser92Cys)	DDX24 (S92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557676	NM_020414.4(DDX24):c.227G>T (p.Arg76Ile)	DDX24 (R76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080951	NM_020414.4(DDX24):c.189G>C (p.Lys63Asn)	DDX24 (K63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547355	NM_020414.4(DDX24):c.125G>C (p.Gly42Ala)	DDX24 (G42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080946	NM_020414.4(DDX24):c.114G>A (p.Met38Ile)	DDX24 (M38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540678	NM_020414.4(DDX24):c.110A>G (p.Asn37Ser)	DDX24 (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080956	NM_020414.4(DDX24):c.76G>T (p.Val26Leu)	DDX24 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 89