DNAJB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 254212	NM_001039550.2(DNAJB2):c.0_229+18del	DNAJB2, LOC129935648	Deletion	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic
Select item 1231523	NC_000002.12:g.219279325C>A	DNAJB2, LOC129935648	Single nucleotide variant	not provided	GBenign
Select item 512511	NM_006736.6(DNAJB2):c.-37+10G>C	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382216	NM_006736.6(DNAJB2):c.-37+20T>G	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1188674	NM_006736.6(DNAJB2):c.-37+75C>T	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680749	NM_006736.6(DNAJB2):c.-36-110G>C	DNAJB2, LOC129935648	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GBenign
Select item 1191670	NM_006736.6(DNAJB2):c.-36-92T>C	DNAJB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382864	NM_006736.6(DNAJB2):c.-36-11C>G	DNAJB2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 511045	NM_006736.6(DNAJB2):c.-35C>G	DNAJB2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1295616	NM_006736.6(DNAJB2):c.-34C>A	DNAJB2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 385056	NM_006736.6(DNAJB2):c.-23C>T	DNAJB2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1509173	NM_006736.6(DNAJB2):c.4G>A (p.Ala2Thr)	DNAJB2 (A2T)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 183042	NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)	DNAJB2 (Y5C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely pathogenic
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 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 1123490	NM_006736.6(DNAJB2):c.27C>T (p.Asp9=)	DNAJB2	Single nucleotide variant (synonymous 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 1496363	NM_006736.6(DNAJB2):c.41C>T (p.Ala14Val)	DNAJB2 (A14V)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 835252	NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro)	DNAJB2 (S15P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
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
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 582676	NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu)	DNAJB2 (A22E)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	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 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 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 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 1537622	NM_006736.6(DNAJB2):c.65+15A>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GBenign
Select item 420985	NM_006736.6(DNAJB2):c.66-21_66-19del	DNAJB2	Microsatellite (intron variant)	not specified	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 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 137118	NM_006736.6(DNAJB2):c.66-14C>T	DNAJB2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GBenign
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 515234	NM_006736.6(DNAJB2):c.66-4G>A	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GLikely benign
Select item 952505	NM_006736.6(DNAJB2):c.68A>G (p.Tyr23Cys)	DNAJB2 (Y23C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 944211	NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp)	DNAJB2 (R24W)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 581882	NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln)	DNAJB2 (R24Q)	Single nucleotide variant (missense 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 429350	NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys)	DNAJB2 (R25C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 1437463	NM_006736.6(DNAJB2):c.74G>A (p.Arg25His)	DNAJB2 (R25H)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 856608	NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter)	DNAJB2 (W30*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
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 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 1441902	NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)	DNAJB2 (E40fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic
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 540534	NM_006736.6(DNAJB2):c.147G>A (p.Val49=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
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 1039099	NM_006736.6(DNAJB2):c.156A>G (p.Ala52=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
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 1058479	NM_006736.6(DNAJB2):c.170C>G (p.Ser57Cys)	DNAJB2 (S57C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	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 652811	NM_006736.6(DNAJB2):c.175+2T>A	DNAJB2	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic/Likely pathogenic
Select item 1528492	NM_006736.6(DNAJB2):c.175+9C>G	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 1106620	NM_006736.6(DNAJB2):c.175+9C>T	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 729254	NM_006736.6(DNAJB2):c.175+10G>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 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 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 672531	NM_006736.6(DNAJB2):c.175+228A>G	DNAJB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208441	NM_006736.6(DNAJB2):c.175+247C>T	DNAJB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190134	NM_006736.6(DNAJB2):c.176-296T>C	DNAJB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188109	NM_006736.6(DNAJB2):c.176-292T>A	DNAJB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680750	NM_006736.6(DNAJB2):c.176-244G>T	DNAJB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674022	NM_006736.6(DNAJB2):c.176-38C>T	DNAJB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 382730	NM_006736.6(DNAJB2):c.176-17C>G	DNAJB2	Single nucleotide variant (intron variant)	not specified	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 1063313	NM_006736.6(DNAJB2):c.176A>G (p.Lys59Arg)	DNAJB2 (K59R)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 540531	NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp)	DNAJB2 (R62W)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1389025	NM_006736.6(DNAJB2):c.187G>A (p.Glu63Lys)	DNAJB2 (E63K)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 661304	NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val)	DNAJB2 (I64V)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 377779	NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +3 more	GLikely benign
Select item 860276	NM_006736.6(DNAJB2):c.196G>T (p.Asp66Tyr)	DNAJB2 (D66Y)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 578733	NM_006736.6(DNAJB2):c.196G>A (p.Asp66Asn)	DNAJB2 (D66N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 576704	NM_006736.6(DNAJB2):c.197_205del (p.Asp66_Tyr68del)	DNAJB2	Deletion (inframe_deletion)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 947708	NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly)	DNAJB2 (R67G)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 843078	NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys)	DNAJB2 (R67C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 665770	NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser)	DNAJB2 (R67S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 373691	NM_006736.6(DNAJB2):c.200G>A (p.Arg67His)	DNAJB2 (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 842781	NM_006736.6(DNAJB2):c.203A>G (p.Tyr68Cys)	DNAJB2 (Y68C)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1452257	NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)	DNAJB2 (Y68*)	Single nucleotide variant (nonsense)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic
Select item 967206	NM_006736.6(DNAJB2):c.208C>A (p.Arg70=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
Select item 841184	NM_006736.6(DNAJB2):c.208C>T (p.Arg70Trp)	DNAJB2 (R70W)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 1058196	NM_006736.6(DNAJB2):c.209G>A (p.Arg70Gln)	DNAJB2 (R70Q)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 1156991	NM_006736.6(DNAJB2):c.216G>A (p.Gly72=)	DNAJB2	Single nucleotide variant (synonymous variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign
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 540530	NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro)	DNAJB2 (T76P)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5 +1 more	GUncertain significance
Select item 183041	NM_006736.6(DNAJB2):c.229+1G>A	DNAJB2	Single nucleotide variant (splice donor variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GPathogenic
Select item 1789094	NM_006736.6(DNAJB2):c.229+2T>A	DNAJB2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
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 1557720	NM_006736.6(DNAJB2):c.229+9A>C	DNAJB2	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, autosomal recessive 5	GLikely benign

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