51241[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +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=)	COX16, SYNJ2BP-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 specified +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	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 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 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +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	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24