ClinVar for Gene (Select 382) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2460003	NM_001663.4(ARF6):c.488A>G (p.Tyr163Cys)	ARF6 (Y163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527812	GRCh37/hg19 14q21.2-21.3(chr14:45827312-50529931)	ARF6, DNAAF2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 784283	NM_001663.4(ARF6):c.219C>T (p.Leu73=)	ARF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710032	NM_001663.4(ARF6):c.51C>T (p.Leu17=)	ARF6, LOC130055556	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 690286	NM_001663.4(ARF6):c.187G>A (p.Asp63Asn)	ARF6, LOC130055556 (D63N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	LRR1, MAP4K5 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic