ClinVar for Gene (Select 85457) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267430	NM_033426.3(CIPC):c.745A>G (p.Ser249Gly)	CIPC (S249G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267429	NM_033426.3(CIPC):c.744C>A (p.Ser248Arg)	CIPC (S248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267428	NM_033426.3(CIPC):c.956A>G (p.Asn319Ser)	CIPC (N319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3145117	NM_033426.3(CIPC):c.964G>C (p.Val322Leu)	CIPC (V322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145116	NM_033426.3(CIPC):c.902G>A (p.Arg301His)	CIPC (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145115	NM_033426.3(CIPC):c.874C>G (p.Pro292Ala)	CIPC (P292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145114	NM_033426.3(CIPC):c.847T>A (p.Ser283Thr)	CIPC (S283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145113	NM_033426.3(CIPC):c.740C>G (p.Ser247Cys)	CIPC (S247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145112	NM_033426.3(CIPC):c.688G>A (p.Gly230Ser)	CIPC (G230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145110	NM_033426.3(CIPC):c.326T>G (p.Leu109Arg)	CIPC (L109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145109	NM_033426.3(CIPC):c.185A>G (p.Asp62Gly)	CIPC (D62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145108	NM_033426.3(CIPC):c.17C>G (p.Pro6Arg)	CIPC (P6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145107	NM_033426.3(CIPC):c.124T>A (p.Ser42Thr)	CIPC (S42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145106	NM_033426.3(CIPC):c.1186C>G (p.His396Asp)	CIPC (H396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2597463	NM_033426.3(CIPC):c.515T>C (p.Leu172Pro)	CIPC (L172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549656	NM_033426.3(CIPC):c.515T>G (p.Leu172Arg)	CIPC (L172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533964	NM_033426.3(CIPC):c.557A>G (p.Lys186Arg)	CIPC (K186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468254	NM_033426.3(CIPC):c.928C>T (p.Arg310Trp)	CIPC (R310W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397630	NM_033426.3(CIPC):c.181G>A (p.Glu61Lys)	CIPC (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387160	NM_033426.3(CIPC):c.1189C>T (p.Pro397Ser)	CIPC (P397S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386247	NM_033426.3(CIPC):c.1141C>G (p.Pro381Ala)	CIPC (P381A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380694	NM_033426.3(CIPC):c.1142C>G (p.Pro381Arg)	CIPC (P381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372580	NM_033426.3(CIPC):c.302A>G (p.Lys101Arg)	CIPC (K101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324036	NM_033426.3(CIPC):c.591G>T (p.Leu197Phe)	CIPC (L197F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314599	NM_033426.3(CIPC):c.974A>G (p.His325Arg)	CIPC (H325R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301366	NM_033426.3(CIPC):c.941A>G (p.His314Arg)	CIPC (H314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241800	NM_033426.3(CIPC):c.1179C>G (p.Phe393Leu)	CIPC (F393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210770	NM_033426.3(CIPC):c.1183G>A (p.Asp395Asn)	CIPC (D395N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210769	NM_033426.3(CIPC):c.1117G>T (p.Ala373Ser)	CIPC (A373S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 686858	GRCh37/hg19 14q24.3-32.11(chr14:77274990-89803137)x1	ADCK1, AHSA1 +35 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 441709	GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1	ADCK1, AHSA1 +27 more	Copy number loss	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
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	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 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45