ClinVar for Gene (Select 51637) - ClinVar - NCBI

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Links from Gene

Items: 15

	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 2381541	NM_007361.4(NID2):c.4108T>C (p.Cys1370Arg)	NID2, RTRAF (C1370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318526	NM_007361.4(NID2):c.3741C>G (p.Asp1247Glu)	NID2, RTRAF (D1247E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288186	NM_007361.4(NID2):c.4051G>C (p.Glu1351Gln)	NID2, RTRAF (E1351Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267028	NM_007361.4(NID2):c.4070G>C (p.Arg1357Pro)	NID2, RTRAF (R1357P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223887	NM_007361.4(NID2):c.3778T>G (p.Leu1260Val)	NID2, RTRAF (L1260V)	Single nucleotide variant (missense variant +1 more)	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 724770	NM_007361.4(NID2):c.3979C>T (p.His1327Tyr)	NID2, RTRAF (H1327Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 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 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
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 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic