51077[Gene ID] - ClinVar

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

Search results

Items: 29

	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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 2525293	NM_015962.5(FCF1):c.55C>G (p.Leu19Val)	FCF1 (L7V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476618	NM_015962.5(FCF1):c.65A>G (p.Gln22Arg)	FCF1 (Q10R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270517	NM_015962.5(FCF1):c.142G>A (p.Val48Ile)	FCF1 (V48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093928	NM_015962.5(FCF1):c.144T>C (p.Val48=)	FCF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2384600	NM_015962.5(FCF1):c.211G>A (p.Val71Ile)	FCF1 (V71I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093929	NM_015962.5(FCF1):c.218C>G (p.Thr73Ser)	FCF1 (T61S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358396	NM_015962.5(FCF1):c.259G>A (p.Val87Met)	FCF1 (V75M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093930	NM_015962.5(FCF1):c.284A>G (p.Tyr95Cys)	FCF1 (Y95C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093931	NM_015962.5(FCF1):c.298C>T (p.Pro100Ser)	FCF1 (P88S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278271	NM_015962.5(FCF1):c.329T>C (p.Ile110Thr)	FCF1 (I110T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093932	NM_015962.5(FCF1):c.389A>G (p.Glu130Gly)	FCF1 (E130G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093933	NM_015962.5(FCF1):c.455A>G (p.His152Arg)	FCF1 (H140R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278273	NM_015962.5(FCF1):c.514C>A (p.Pro172Thr)	FCF1 (P160T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278272	NM_015962.5(FCF1):c.578A>T (p.Tyr193Phe)	FCF1 (Y181F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 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 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	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 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic

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: 29