ClinVar for Gene (Select 9253) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202928	NM_004756.5(NUMBL):c.41C>T (p.Pro14Leu)	NUMBL (P14L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202927	NM_004756.5(NUMBL):c.419C>T (p.Thr140Ile)	NUMBL (T140I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202926	NM_004756.5(NUMBL):c.1777C>T (p.Pro593Ser)	NUMBL (P593S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202924	NM_004756.5(NUMBL):c.1385C>A (p.Pro462His)	NUMBL (P421H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2618647	NM_004756.5(NUMBL):c.77C>T (p.Pro26Leu)	NUMBL (P26L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2611882	NM_004756.5(NUMBL):c.1009C>T (p.Arg337Cys)	NUMBL (R337C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606008	NM_004756.5(NUMBL):c.163G>A (p.Ala55Thr)	NUMBL (A14T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539911	NM_004756.5(NUMBL):c.358G>T (p.Val120Leu)	NUMBL (V120L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522919	NM_004756.5(NUMBL):c.1681C>A (p.Pro561Thr)	NUMBL (P520T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520860	NM_004756.5(NUMBL):c.46C>T (p.Arg16Trp)	NUMBL (R16W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516412	NM_004756.5(NUMBL):c.784G>A (p.Val262Met)	NUMBL (V262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488810	NM_004756.5(NUMBL):c.874C>T (p.Arg292Trp)	NUMBL (R251W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426897	NC_000019.9:g.(?_41114106)_(41201979_?)dup	COQ8B, LTBP4 +1 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 2405652	NM_004756.5(NUMBL):c.1619T>C (p.Phe540Ser)	NUMBL (F499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400474	NM_004756.5(NUMBL):c.1613G>A (p.Gly538Glu)	NUMBL (G497E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397590	NM_004756.5(NUMBL):c.1484C>T (p.Pro495Leu)	NUMBL (P454L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388951	NM_004756.5(NUMBL):c.1519G>A (p.Val507Met)	NUMBL (V466M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384739	NM_004756.5(NUMBL):c.829G>T (p.Ala277Ser)	NUMBL (A236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379584	NM_004756.5(NUMBL):c.1621C>A (p.Pro541Thr)	NUMBL (P500T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330353	NM_004756.5(NUMBL):c.1174G>T (p.Gly392Cys)	NUMBL (G392C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318263	NM_004756.5(NUMBL):c.1477G>A (p.Ala493Thr)	NUMBL (A452T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2313659	NM_004756.5(NUMBL):c.1612G>A (p.Gly538Arg)	NUMBL (G538R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291094	NM_004756.5(NUMBL):c.1193C>A (p.Pro398His)	NUMBL (P398H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281460	NM_004756.5(NUMBL):c.1463C>T (p.Pro488Leu)	NUMBL (P447L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280383	NM_004756.5(NUMBL):c.59C>T (p.Pro20Leu)	NUMBL (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276694	NM_004756.5(NUMBL):c.1186G>A (p.Val396Met)	NUMBL (V355M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261184	NM_004756.5(NUMBL):c.502C>T (p.Arg168Cys)	NUMBL (R168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237148	NM_004756.5(NUMBL):c.593G>A (p.Arg198Gln)	NUMBL (R198Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230300	NM_004756.5(NUMBL):c.1058G>A (p.Gly353Asp)	NUMBL (G312D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212164	NM_004756.5(NUMBL):c.276G>C (p.Glu92Asp)	NUMBL (E92D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 689066	GRCh37/hg19 19q13.2(chr19:41191376-41239029)x3	COQ8B, ITPKC +1 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40