ClinVar for Gene (Select 3300) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3034950	NM_006736.6(DNAJB2):c.929G>A (p.Arg310His)	DNAJB2 (R310H)	Single nucleotide variant (missense variant +1 more)	DNAJB2-related disorder	GLikely benign
Select item 3019972	NM_006736.6(DNAJB2):c.620-6T>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2997216	NM_006736.6(DNAJB2):c.425C>T (p.Ser142Phe)	DNAJB2 (S142F)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2982538	NM_006736.6(DNAJB2):c.366C>T (p.Pro122=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2971502	NM_006736.6(DNAJB2):c.507A>C (p.Thr169=)	DNAJB2	Single nucleotide variant (synonymous variant)	DNAJB2-related disorder +1 more	GLikely benign
Select item 2957219	NM_006736.6(DNAJB2):c.408C>T (p.Pro136=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2921162	NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)	DNAJB2 (R310C)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2917720	NM_006736.6(DNAJB2):c.175+19C>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2911260	NM_006736.6(DNAJB2):c.33G>T (p.Pro11=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2910084	NM_006736.6(DNAJB2):c.96A>G (p.Pro32=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2901507	NM_006736.6(DNAJB2):c.741C>T (p.Ser247=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2895684	NM_006736.6(DNAJB2):c.259A>G (p.Ser87Gly)	DNAJB2 (S87G)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2890335	NM_006736.6(DNAJB2):c.548+13T>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2889176	NM_006736.6(DNAJB2):c.562G>A (p.Gly188Arg)	DNAJB2 (G188R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2869219	NM_006736.6(DNAJB2):c.230-4C>A	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2840706	NM_006736.6(DNAJB2):c.639A>G (p.Ala213=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2828827	NM_006736.6(DNAJB2):c.353-1G>C	DNAJB2	Single nucleotide variant (splice acceptor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely pathogenic
Select item 2753426	NM_006736.6(DNAJB2):c.168G>C (p.Leu56=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2744592	NM_006736.6(DNAJB2):c.176-20G>A	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2739201	NM_006736.6(DNAJB2):c.203A>T (p.Tyr68Phe)	DNAJB2 (Y68F)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2728249	NM_006736.6(DNAJB2):c.230-19C>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2726262	NM_006736.6(DNAJB2):c.433C>T (p.Pro145Ser)	DNAJB2 (P145S)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2717379	NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)	DNAJB2 (V167I)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2706344	NM_006736.6(DNAJB2):c.65+12C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2701774	NM_006736.6(DNAJB2):c.72G>A (p.Arg24=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2696517	NM_006736.6(DNAJB2):c.445+1G>A	DNAJB2	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely pathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2651918	NM_006736.6(DNAJB2):c.888G>C (p.Leu296Phe)	DNAJB2 (L296F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2630116	NM_006736.6(DNAJB2):c.175+1G>C	DNAJB2	Single nucleotide variant (splice donor variant)	DNAJB2-related disorder	GLikely pathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2478990	NM_006736.6(DNAJB2):c.326G>T (p.Ser109Ile)	DNAJB2 (S109I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445616	NM_006736.6(DNAJB2):c.99C>G (p.Asp33Glu)	DNAJB2 (D33E)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2440927	NM_006736.6(DNAJB2):c.65+5G>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2423544	NC_000002.11:g.(?_220144556)_(220150719_?)dup	DNAJB2	Duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2264542	NM_006736.6(DNAJB2):c.554T>C (p.Met185Thr)	DNAJB2 (M185T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188728	NM_006736.6(DNAJB2):c.66-11A>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2181500	NM_006736.6(DNAJB2):c.176-10_176-9del	DNAJB2	Microsatellite (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2173930	NM_006736.6(DNAJB2):c.65+10T>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2173349	NM_006736.6(DNAJB2):c.405C>T (p.Gly135=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2167224	NM_006736.6(DNAJB2):c.66-16C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2164271	NM_006736.6(DNAJB2):c.548+4A>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2157940	NM_006736.6(DNAJB2):c.369C>T (p.Phe123=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2157574	NM_006736.6(DNAJB2):c.548+19G>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2153711	NM_006736.6(DNAJB2):c.21C>A (p.Ile7=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2144104	NM_006736.6(DNAJB2):c.445+11C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2142010	NM_006736.6(DNAJB2):c.572G>A (p.Arg191Gln)	DNAJB2 (R191Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2117686	NM_006736.6(DNAJB2):c.750T>G (p.Ser250=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2105143	NM_006736.6(DNAJB2):c.348C>G (p.Leu116=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2096703	NM_006736.6(DNAJB2):c.236G>A (p.Gly79Asp)	DNAJB2 (G79D)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2088982	NM_006736.6(DNAJB2):c.620G>T (p.Gly207Val)	DNAJB2 (G207V)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2083327	NM_006736.6(DNAJB2):c.819C>T (p.Pro273=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2080555	NM_006736.6(DNAJB2):c.641T>C (p.Leu214Pro)	DNAJB2 (L214P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2077321	NM_006736.6(DNAJB2):c.619+8G>A	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2049686	NM_006736.6(DNAJB2):c.175+11G>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2044460	NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)	DNAJB2 (Q280R)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2043169	NM_006736.6(DNAJB2):c.445+17C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2040481	NM_006736.6(DNAJB2):c.820G>A (p.Ala274Thr)	DNAJB2 (A274T)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 2039411	NM_006736.6(DNAJB2):c.363C>G (p.Gly121=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2037406	NM_006736.6(DNAJB2):c.459A>C (p.Ser153=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 2020161	NM_006736.6(DNAJB2):c.645C>T (p.Gly215=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1993006	NM_006736.6(DNAJB2):c.619+16C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1991710	NM_006736.6(DNAJB2):c.66-18T>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GBenign
Select item 1988541	NM_006736.6(DNAJB2):c.*988C>T	DNAJB2	Single nucleotide variant (intron variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1967163	NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)	DNAJB2 (G130D)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1963297	NM_006736.6(DNAJB2):c.640C>T (p.Leu214=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1959048	NM_006736.6(DNAJB2):c.582G>A (p.Val194=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1941286	NM_006736.6(DNAJB2):c.17A>G (p.Glu6Gly)	DNAJB2 (E6G)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1926853	NM_006736.6(DNAJB2):c.218T>C (p.Leu73Pro)	DNAJB2 (L73P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1895597	NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)	DNAJB2 (E40*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic
Select item 1809642	NM_006736.6(DNAJB2):c.154G>A (p.Ala52Thr)	DNAJB2 (A52T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1796688	NM_006736.6(DNAJB2):c.283A>G (p.Thr95Ala)	DNAJB2 (T95A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789094	NM_006736.6(DNAJB2):c.229+2T>A	DNAJB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 1762605	NM_006736.6(DNAJB2):c.*995C>T	DNAJB2	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1755075	NM_006736.6(DNAJB2):c.671A>C (p.Gln224Pro)	DNAJB2 (Q224P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1755031	NM_006736.6(DNAJB2):c.670C>G (p.Gln224Glu)	DNAJB2 (Q224E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754566	NM_006736.6(DNAJB2):c.662G>A (p.Arg221His)	DNAJB2 (R221H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753902	NM_006736.6(DNAJB2):c.64G>C (p.Ala22Pro)	DNAJB2 (A22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753887	NM_006736.6(DNAJB2):c.649G>C (p.Glu217Gln)	DNAJB2 (E217Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1752682	NM_006736.6(DNAJB2):c.629A>G (p.Asp210Gly)	DNAJB2 (D210G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1735983	NM_006736.6(DNAJB2):c.389G>C (p.Gly130Ala)	DNAJB2 (G130A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1732377	NM_006736.6(DNAJB2):c.353-24_357del	DNAJB2	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 1711526	NM_006736.6(DNAJB2):c.905G>T (p.Gly302Val)	DNAJB2 (G302V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709938	NM_006736.6(DNAJB2):c.65+1G>A	DNAJB2	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely pathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695005	NM_006736.6(DNAJB2):c.847C>T (p.Arg283Trp)	DNAJB2 (R283W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1673899	NM_006736.6(DNAJB2):c.445+9T>A	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1663478	NM_006736.6(DNAJB2):c.441C>T (p.His147=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1631644	NM_006736.6(DNAJB2):c.723C>T (p.Ala241=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1630067	NM_006736.6(DNAJB2):c.229+8G>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1628953	NM_006736.6(DNAJB2):c.175+13G>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1626863	NM_006736.6(DNAJB2):c.693T>G (p.Ser231=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1622120	NM_006736.6(DNAJB2):c.237C>T (p.Gly79=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1616467	NM_006736.6(DNAJB2):c.426C>T (p.Ser142=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1609722	NM_006736.6(DNAJB2):c.230-15A>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1595483	NM_006736.6(DNAJB2):c.*981G>A	DNAJB2	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1583138	NM_006736.6(DNAJB2):c.561C>T (p.Asn187=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1572599	NM_006736.6(DNAJB2):c.783C>T (p.Tyr261=)	DNAJB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1557720	NM_006736.6(DNAJB2):c.229+9A>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1548075	NM_006736.6(DNAJB2):c.63G>A (p.Lys21=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign

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