51241[geneid] - 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	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 3076449	NM_016468.7(COX16):c.251C>T (p.Pro84Leu)	COX16, SYNJ2BP-COX16 (P60L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1120203	NM_016468.7(COX16):c.244C>T (p.Arg82Ter)	COX16, SYNJ2BP-COX16 (R82* +4 more)	Single nucleotide variant (nonsense)	Mitochondrial complex IV deficiency, nuclear type 22	GPathogenic
Select item 3076448	NM_016468.7(COX16):c.238A>G (p.Asn80Asp)	COX16, SYNJ2BP-COX16 (N56D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234511	NM_016468.7(COX16):c.210C>T (p.Ile70=)	SYNJ2BP-COX16, COX16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076447	NM_016468.7(COX16):c.210C>G (p.Ile70Met)	COX16, SYNJ2BP-COX16 (I146M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076445	NM_016468.7(COX16):c.205A>G (p.Lys69Glu)	COX16, SYNJ2BP-COX16 (K121E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076444	NM_016468.7(COX16):c.195G>A (p.Ser65=)	COX16, SYNJ2BP-COX16	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3076443	NM_016468.7(COX16):c.194C>T (p.Ser65Leu)	COX16, SYNJ2BP-COX16 (S117L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578720	NM_016468.7(COX16):c.184T>C (p.Ser62Pro)	COX16, SYNJ2BP-COX16 (S114P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3076442	NM_016468.7(COX16):c.166C>A (p.Leu56Met)	COX16, SYNJ2BP-COX16 (L141M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519096	NM_016468.7(COX16):c.101G>A (p.Arg34His)	COX16, SYNJ2BP-COX16 (R34H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557241	NM_016468.7(COX16):c.58G>A (p.Val20Ile)	COX16, LOC130055985 +1 more (V20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076450	NM_016468.7(COX16):c.49G>A (p.Gly17Ser)	COX16, LOC130055985 +1 more (G17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264162	NM_016468.7(COX16):c.41A>C (p.Lys14Thr)	COX16, LOC130055985 +1 more (K14T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685493	GRCh37/hg19 14q24.2(chr14:70651622-70949256)x1	ADAM21, COX16 +2 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
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 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	AP5M1, EXOC5 +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 24