ClinVar for Gene (Select 283576) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334256	NM_174976.2(ZDHHC22):c.127C>G (p.Leu43Val)	ZDHHC22 (L43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334255	NM_174976.2(ZDHHC22):c.344G>A (p.Gly115Asp)	ZDHHC22 (G115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334254	NM_174976.2(ZDHHC22):c.244G>A (p.Ala82Thr)	ZDHHC22 (A82T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3244101	NC_000014.8:g.(?_76173946)_(78082922_?)dup	AHSA1, ANGEL1 +20 more	Duplication	not provided	GUncertain significance
Select item 3192710	NM_174976.2(ZDHHC22):c.751T>C (p.Phe251Leu)	ZDHHC22 (F251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192709	NM_174976.2(ZDHHC22):c.67T>C (p.Phe23Leu)	ZDHHC22 (F23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192708	NM_174976.2(ZDHHC22):c.190A>G (p.Asn64Asp)	ZDHHC22 (N64D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192707	NM_174976.2(ZDHHC22):c.149A>G (p.His50Arg)	ZDHHC22 (H50R)	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 2405621	NM_174976.2(ZDHHC22):c.667G>T (p.Val223Leu)	ZDHHC22 (V223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328317	NM_174976.2(ZDHHC22):c.150C>A (p.His50Gln)	ZDHHC22 (H50Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302218	NM_174976.2(ZDHHC22):c.655G>A (p.Val219Met)	ZDHHC22 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281080	NM_174976.2(ZDHHC22):c.422T>C (p.Met141Thr)	ZDHHC22 (M141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270248	NM_174976.2(ZDHHC22):c.260C>T (p.Thr87Ile)	ZDHHC22 (T87I)	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 685506	GRCh37/hg19 14q24.3(chr14:77587406-77698358)x3	TMEM63C, ZDHHC22	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 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	LOC126862060, LOC126862061 +3282 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	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 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 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

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Links from Gene

Items: 29