2325[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 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 2252095	NM_017437.3(CPSF2):c.28C>G (p.Leu10Val)	CPSF2 (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362422	NM_017437.3(CPSF2):c.124A>G (p.Met42Val)	CPSF2 (M42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269276	NM_017437.3(CPSF2):c.403G>A (p.Val135Met)	CPSF2 (V135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264252	NM_017437.3(CPSF2):c.416G>A (p.Gly139Asp)	CPSF2 (G139D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076885	NM_017437.3(CPSF2):c.436A>G (p.Ile146Val)	CPSF2 (I146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076886	NM_017437.3(CPSF2):c.668T>C (p.Val223Ala)	CPSF2 (V223A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076887	NM_017437.3(CPSF2):c.800C>T (p.Ala267Val)	CPSF2 (A114V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605081	NM_017437.3(CPSF2):c.850G>A (p.Val284Ile)	CPSF2 (V284I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076889	NM_017437.3(CPSF2):c.986G>A (p.Ser329Asn)	CPSF2 (S329N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241602	NM_017437.3(CPSF2):c.997C>A (p.Leu333Met)	CPSF2 (L180M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609395	NM_017437.3(CPSF2):c.1019A>C (p.Asp340Ala)	CPSF2 (D187A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076881	NM_017437.3(CPSF2):c.1081C>T (p.Pro361Ser)	CPSF2 (P208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308893	NM_017437.3(CPSF2):c.1091T>C (p.Leu364Ser)	CPSF2 (L211S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076882	NM_017437.3(CPSF2):c.1096C>T (p.Arg366Cys)	CPSF2 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076883	NM_017437.3(CPSF2):c.1097G>A (p.Arg366His)	CPSF2 (R213H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400479	NM_017437.3(CPSF2):c.1310C>T (p.Thr437Met)	CPSF2 (T437M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344952	NM_017437.3(CPSF2):c.1346G>A (p.Arg449His)	CPSF2 (R296H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269275	NM_017437.3(CPSF2):c.1378T>G (p.Ser460Ala)	CPSF2 (S460A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339396	NM_017437.3(CPSF2):c.1387A>T (p.Met463Leu)	CPSF2 (M310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468930	NM_017437.3(CPSF2):c.1531A>G (p.Met511Val)	CPSF2 (M511V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480058	NM_017437.3(CPSF2):c.1590A>C (p.Glu530Asp)	CPSF2 (E530D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397038	NM_017437.3(CPSF2):c.1601G>A (p.Arg534Gln)	CPSF2 (R381Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479197	NM_017437.3(CPSF2):c.1736G>A (p.Arg579His)	CPSF2 (R579H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550799	NM_017437.3(CPSF2):c.1895A>T (p.Asp632Val)	CPSF2 (D632V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531287	NM_017437.3(CPSF2):c.1922A>C (p.Lys641Thr)	CPSF2 (K488T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269274	NM_017437.3(CPSF2):c.1969G>A (p.Gly657Arg)	CPSF2 (G504R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349818	NM_017437.3(CPSF2):c.1985T>C (p.Met662Thr)	CPSF2 (M611T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260289	NM_017437.3(CPSF2):c.2080A>T (p.Ser694Cys)	CPSF2 (S541C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541618	NM_017437.3(CPSF2):c.2085G>T (p.Glu695Asp)	CPSF2 (E695D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323006	NM_017437.3(CPSF2):c.2089A>G (p.Ile697Val)	CPSF2 (I646V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539879	NM_017437.3(CPSF2):c.2090T>A (p.Ile697Asn)	CPSF2 (I544N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076884	NM_017437.3(CPSF2):c.2317G>C (p.Asp773His)	CPSF2 (D620H +2 more)	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	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	SLC24A4, TC2N +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 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 564098	GRCh37/hg19 14q32.12(chr14:92614740-92766925)x1	CPSF2	Copy number loss	not provided	GUncertain significance
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 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: 55