20150[HGNC] - ClinVar

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Items: 24

	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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 3150613	NM_001308154.2(RAB15):c.470A>G (p.Asn157Ser)	CHURC1-FNTB, RAB15 (N111S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216149	NM_001308154.2(RAB15):c.327C>T (p.Tyr109=)	CHURC1-FNTB, RAB15 (T153M)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3150612	NM_001308154.2(RAB15):c.324+23C>T	CHURC1-FNTB, RAB15 (P116L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150611	NM_001308154.2(RAB15):c.316G>A (p.Val106Met)	CHURC1-FNTB, RAB15 (V106M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547774	NM_001308154.2(RAB15):c.299T>C (p.Met100Thr)	CHURC1-FNTB, RAB15 (M100T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312095	NM_001308154.2(RAB15):c.277G>A (p.Glu93Lys)	CHURC1-FNTB, RAB15 (E47K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147881	GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3	CHURC1-FNTB, FNTB +57 more	Copy number gain	See cases	GUncertain significance
Select item 3150610	NM_001308154.2(RAB15):c.100C>T (p.His34Tyr)	CHURC1-FNTB, RAB15 (H34Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346866	NM_001308154.2(RAB15):c.79C>G (p.Arg27Gly)	CHURC1-FNTB, RAB15 (R27G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486145	NM_001308154.2(RAB15):c.19G>A (p.Val7Met)	CHURC1-FNTB, RAB15 (V7M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3312096	NM_001308154.2(RAB15):c.14A>G (p.Tyr5Cys)	CHURC1-FNTB, RAB15 (Y5C)	Single nucleotide variant (missense variant +2 more)	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 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
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 1706498	GRCh37/hg19 14q23.2-23.3(chr14:64016496-65834490)x3	AKAP5, CHURC1 +16 more	Copy number gain	See cases	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 980604	GRCh37/hg19 14q23.1-23.3(chr14:61409856-65742610)x3	FNTB, AKAP5 +29 more	Copy number gain	not provided	GLikely pathogenic
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

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Items: 24