C14orf178[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	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 148347	GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1	ADCK1, AHSA1 +72 more	Copy number loss	See cases	GLikely pathogenic
Select item 2684739	GRCh37/hg19 14q24.3(chr14:78152921-78505776)x3	ADCK1, ALKBH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684738	GRCh37/hg19 14q24.3-31.1(chr14:78078206-79605613)x3	ADCK1, ALKBH1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684737	GRCh37/hg19 14q24.3(chr14:77885734-78292290)x3	ADCK1, AHSA1 +8 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 1527828	GRCh37/hg19 14q24.3(chr14:77862909-78274607)	ADCK1, AHSA1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 980613	GRCh37/hg19 14q24.3-31.1(chr14:78075661-79605863)x4	SNW1, SLIRP +4 more	Copy number gain	not provided	GUncertain significance
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 393987	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579214)x3	ADCK1, ALKBH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253941	GRCh37/hg19 14q24.3(chr14:78146198-78504237)x3	SNW1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253839	GRCh37/hg19 14q24.3-31.1(chr14:78146198-79579273)x4	ADCK1, C14orf178 +3 more	Copy number gain	See cases	GUncertain significance

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Items: 20