NUMB[gene] - ClinVar

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Items: 42

	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 58331	GRCh38/hg38 14q24.2-24.3(chr14:72886764-73367226)x3	DCAF4, DPF3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2644361	NM_001005743.2(NUMB):c.1938G>A (p.Thr646=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 769401	NM_001005743.2(NUMB):c.1875T>C (p.Asn625=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 768662	NM_001005743.2(NUMB):c.1089C>T (p.Thr363=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 768663	NM_001005743.2(NUMB):c.345T>C (p.Ser115=)	NUMB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
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 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 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

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Items: 42