19856[HGNC] - ClinVar

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Items: 25

	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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	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 656294	NC_000014.8:g.(?_74111723)_(74727642_?)dup	COQ6, DNAL1 +58 more	Duplication	Primary ciliary dyskinesia 16	GUncertain significance
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 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 3118929	NM_001024674.3(LIN52):c.64C>T (p.Arg22Cys)	LIN52 (R20C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336410	NM_001024674.3(LIN52):c.107C>T (p.Ala36Val)	LIN52 (A36V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290767	NM_001024674.3(LIN52):c.126C>G (p.Phe42Leu)	LIN52 (F40L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233162	NM_001024674.3(LIN52):c.152C>G (p.Pro51Arg)	LIN52 (P51R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602579	NM_001024674.3(LIN52):c.176G>A (p.Arg59His)	LIN52 (R59H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283819	NM_001024674.3(LIN52):c.187G>A (p.Asp63Asn)	LIN52 (D61N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118927	NM_001024674.3(LIN52):c.218C>T (p.Thr73Met)	LIN52 (T71M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684735	GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3	ALDH6A1, BBOF1 +6 more	Copy number gain	not provided	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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1340029	GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3	ABCD4, ALDH6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 564126	GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3	ABCD4, ALDH6A1 +11 more	Copy number gain	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
Select item 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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Items: 25