NMBR[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 1252678	NM_002511.4(NMBR):c.1168C>A (p.Leu390Met)	NMBR (L242M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2289204	NM_002511.4(NMBR):c.1141G>A (p.Gly381Arg)	NMBR (G381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457679	NM_002511.4(NMBR):c.1106C>T (p.Ala369Val)	NMBR (A221V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736180	NM_002511.4(NMBR):c.1077G>A (p.Ala359=)	NMBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709232	NM_002511.4(NMBR):c.1074A>G (p.Ser358=)	NMBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2519623	NM_002511.4(NMBR):c.1031A>C (p.Lys344Thr)	NMBR (K344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511481	NM_002511.4(NMBR):c.979C>G (p.Leu327Val)	NMBR (L179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770365	NM_002511.4(NMBR):c.928C>T (p.Arg310Trp)	NMBR (R310W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2322505	NM_002511.4(NMBR):c.862T>A (p.Tyr288Asn)	NMBR (Y140N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300135	NM_002511.4(NMBR):c.823T>A (p.Phe275Ile)	NMBR (F275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200781	NM_002511.4(NMBR):c.733A>C (p.Asn245His)	NMBR (N245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320094	NM_002511.4(NMBR):c.709A>C (p.Lys237Gln)	NMBR (K237Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213336	NM_002511.4(NMBR):c.706G>A (p.Ala236Thr)	NMBR (A236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514472	NM_002511.4(NMBR):c.670C>G (p.Pro224Ala)	NMBR (P224A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357291	NM_002511.4(NMBR):c.669A>G (p.Ile223Met)	NMBR (I223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622759	NM_002511.4(NMBR):c.605C>T (p.Pro202Leu)	NMBR (P54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229150	NM_002511.4(NMBR):c.554C>T (p.Ala185Val)	NMBR (A185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200780	NM_002511.4(NMBR):c.514G>A (p.Val172Met)	NMBR (V24M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368538	NM_002511.4(NMBR):c.511T>C (p.Ser171Pro)	NMBR (S171P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656945	NM_002511.4(NMBR):c.499A>G (p.Ile167Val)	NMBR (I167V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2338899	NM_002511.4(NMBR):c.461C>T (p.Ser154Leu)	NMBR (S6L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300136	NM_002511.4(NMBR):c.453G>A (p.Met151Ile)	NMBR (M151I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2273810	NM_002511.4(NMBR):c.442C>G (p.Pro148Ala)	NMBR (P148A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616066	NM_002511.4(NMBR):c.434T>C (p.Ile145Thr)	NMBR (I145T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200778	NM_002511.4(NMBR):c.414C>A (p.Ser138Arg)	NMBR (S138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200777	NM_002511.4(NMBR):c.382G>A (p.Gly128Arg)	NMBR (G128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339609	NM_002511.4(NMBR):c.350A>G (p.Lys117Arg)	NMBR (K117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200775	NM_002511.4(NMBR):c.290T>A (p.Val97Asp)	NMBR (V97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525164	NM_002511.4(NMBR):c.227G>A (p.Ser76Asn)	NMBR (S76N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220040	NM_002511.4(NMBR):c.217G>T (p.Ala73Ser)	NMBR (A73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301192	NM_002511.4(NMBR):c.170G>C (p.Gly57Ala)	NMBR (G57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515397	NM_002511.4(NMBR):c.142T>A (p.Ser48Thr)	NMBR (S48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711317	NM_002511.4(NMBR):c.138C>T (p.Ile46=)	NMBR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2511172	NM_002511.4(NMBR):c.133G>A (p.Val45Met)	NMBR (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360423	NM_002511.4(NMBR):c.128G>A (p.Arg43His)	NMBR (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355068	NM_002511.4(NMBR):c.95C>G (p.Ala32Gly)	NMBR (A32G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336786	NM_002511.4(NMBR):c.77A>C (p.Glu26Ala)	NMBR (E26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200776	NM_002511.4(NMBR):c.29C>G (p.Ser10Trp)	NMBR (S10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656946	NM_001358410.2(GJE1):c.437A>C (p.Tyr146Ser)	GJE1, NMBR (Y146S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1807585	GRCh37/hg19 6q24.1(chr6:142246948-142757320)x3	ADGRG6, NMBR +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527298	GRCh37/hg19 6q24.1-24.2(chr6:140486733-143341271)	ADGRG6, HIVEP2 +2 more	Copy number loss	not specified	GLikely pathogenic
Select item 814877	GRCh37/hg19 6q24.1(chr6:142315623-142413811)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 814876	GRCh37/hg19 6q24.1(chr6:142268023-142425875)x1	NMBR	Copy number loss	not provided	GLikely benign
Select item 814875	GRCh37/hg19 6q24.1(chr6:142212802-142423810)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 686527	GRCh37/hg19 6q24.1(chr6:142229411-142418636)x1	NMBR	Copy number loss	not provided	GUncertain significance
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442470	GRCh37/hg19 6q24.1-25.1(chr6:139513020-150389231)x1	ADAT2, ADGB +42 more	Copy number loss	See cases	GPathogenic
Select item 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic
Select item 394822	GRCh37/hg19 6q24.1(chr6:142336741-142438130)x3	NMBR	Copy number gain	See cases	GLikely benign

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Items: 57