ClinVar for Gene (Select 8650) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301446	NM_001005743.2(NUMB):c.1869A>C (p.Leu623Phe)	NUMB (L575F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301445	NM_001005743.2(NUMB):c.1921A>G (p.Ser641Gly)	NUMB (S593G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202922	NM_001005743.2(NUMB):c.889C>T (p.Arg297Cys)	NUMB (R286C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202921	NM_001005743.2(NUMB):c.611C>T (p.Ala204Val)	NUMB (A193V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202920	NM_001005743.2(NUMB):c.557G>A (p.Arg186Gln)	NUMB (R186Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202919	NM_001005743.2(NUMB):c.221G>C (p.Gly74Ala)	NUMB (G74A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202918	NM_001005743.2(NUMB):c.1252G>T (p.Gly418Cys)	NUMB (G407C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202917	NM_001005743.2(NUMB):c.1130C>T (p.Ala377Val)	NUMB (A366V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684733	GRCh37/hg19 14q24.2-24.3(chr14:72984321-73975604)x3	DCAF4, DPF3 +8 more	Copy number gain	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 2644361	NM_001005743.2(NUMB):c.1938G>A (p.Thr646=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614769	NM_001005743.2(NUMB):c.1246G>A (p.Glu416Lys)	NUMB (E357K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551050	NM_001005743.2(NUMB):c.1339G>A (p.Val447Met)	NUMB (V399M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526678	NM_001005743.2(NUMB):c.527G>A (p.Cys176Tyr)	NUMB (C165Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513230	NM_001005743.2(NUMB):c.1888C>T (p.Arg630Cys)	NUMB (R571C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475154	NM_001005743.2(NUMB):c.1612G>A (p.Val538Ile)	NUMB (V490I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461555	NM_001005743.2(NUMB):c.1838T>G (p.Val613Gly)	NUMB (V613G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458601	NM_001005743.2(NUMB):c.1130C>A (p.Ala377Asp)	NUMB (A366D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457981	NM_001005743.2(NUMB):c.670A>G (p.Ile224Val)	NUMB (I224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371210	NM_001005743.2(NUMB):c.625A>G (p.Ile209Val)	NUMB (I198V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348512	NM_001005743.2(NUMB):c.1399C>T (p.Leu467Phe)	NUMB (L419F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338104	NM_001005743.2(NUMB):c.874C>T (p.Arg292Cys)	NUMB (R281C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325605	NM_001005743.2(NUMB):c.1441C>T (p.Pro481Ser)	NUMB (P422S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318211	NM_001005743.2(NUMB):c.875G>A (p.Arg292His)	NUMB (R281H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269924	NM_001005743.2(NUMB):c.1637A>G (p.Gln546Arg)	NUMB (Q535R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260127	NM_001005743.2(NUMB):c.1378G>C (p.Ala460Pro)	NUMB (A449P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234008	NM_001005743.2(NUMB):c.1527G>C (p.Gln509His)	NUMB (Q509H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807977	GRCh37/hg19 14q24.2(chr14:73216923-73758752)x3	DCAF4, DPF3 +5 more	Copy number gain	not provided	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 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 769401	NM_001005743.2(NUMB):c.1875T>C (p.Asn625=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768663	NM_001005743.2(NUMB):c.345T>C (p.Ser115=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768662	NM_001005743.2(NUMB):c.1089C>T (p.Thr363=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
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 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 42