ClinVar for Gene (Select 374407) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 182

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3084393	NM_153614.4(DNAJB13):c.908C>T (p.Thr303Ile)	DNAJB13 (T245I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084392	NM_153614.4(DNAJB13):c.706A>T (p.Ile236Phe)	DNAJB13 (I178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084391	NM_153614.4(DNAJB13):c.40A>G (p.Asn14Asp)	DNAJB13 (N14D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3064827	NM_153614.4(DNAJB13):c.493-1G>A	DNAJB13	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 34	GLikely pathogenic
Select item 3033156	NM_153614.4(DNAJB13):c.-9T>C	DNAJB13	Single nucleotide variant (5 prime UTR variant)	DNAJB13-related disorder	GLikely benign
Select item 3006903	NM_153614.4(DNAJB13):c.381G>A (p.Gly127=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004885	NM_153614.4(DNAJB13):c.559G>A (p.Gly187Ser)	DNAJB13 (G129S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004753	NM_153614.4(DNAJB13):c.690C>G (p.Leu230=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988020	NM_153614.4(DNAJB13):c.361G>T (p.Val121Leu)	DNAJB13 (V63L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982132	NM_153614.4(DNAJB13):c.822A>G (p.Pro274=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975360	NM_153614.4(DNAJB13):c.334+13C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973864	NM_153614.4(DNAJB13):c.425G>A (p.Arg142Gln)	DNAJB13 (R142Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964070	NM_153614.4(DNAJB13):c.334+17C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961411	NM_153614.4(DNAJB13):c.172+1G>A	DNAJB13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2904051	NM_153614.4(DNAJB13):c.296T>A (p.Val99Glu)	DNAJB13 (V41E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898037	NM_153614.4(DNAJB13):c.618C>T (p.Ile206=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886498	NM_153614.4(DNAJB13):c.609C>T (p.Gly203=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878972	NM_153614.4(DNAJB13):c.900C>A (p.Thr300=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878808	NM_153614.4(DNAJB13):c.173-4A>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816452	NM_153614.4(DNAJB13):c.334+10C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752096	NM_153614.4(DNAJB13):c.335-2A>G	DNAJB13	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2740090	NM_153614.4(DNAJB13):c.558C>T (p.Pro186=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711744	NM_153614.4(DNAJB13):c.696C>T (p.Phe232=)	DNAJB13	Single nucleotide variant (synonymous variant)	DNAJB13-related disorder +1 more	GLikely benign
Select item 2710385	NM_153614.4(DNAJB13):c.720+2T>C	DNAJB13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2710198	NM_153614.4(DNAJB13):c.721-12G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703785	NM_153614.4(DNAJB13):c.185G>A (p.Gly62Asp)	DNAJB13 (G62D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697437	NM_153614.4(DNAJB13):c.173-13T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2490058	NM_153614.4(DNAJB13):c.824G>C (p.Gly275Ala)	DNAJB13 (G275A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430878	NM_153614.4(DNAJB13):c.335-60C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 2419266	NM_153614.4(DNAJB13):c.296T>C (p.Val99Ala)	DNAJB13 (V41A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2416386	NM_153614.4(DNAJB13):c.45A>G (p.Ser15=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2392128	NM_153614.4(DNAJB13):c.902G>A (p.Arg301His)	DNAJB13 (R243H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340131	NM_153614.4(DNAJB13):c.337T>A (p.Phe113Ile)	DNAJB13 (F55I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323142	NM_153614.4(DNAJB13):c.836C>T (p.Pro279Leu)	DNAJB13 (P221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312211	NM_153614.4(DNAJB13):c.180G>T (p.Lys60Asn)	DNAJB13 (K60N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279017	NM_153614.4(DNAJB13):c.94C>T (p.His32Tyr)	DNAJB13 (H32Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2244370	NM_153614.4(DNAJB13):c.188T>A (p.Ile63Asn)	DNAJB13 (I5N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196057	NM_153614.4(DNAJB13):c.68C>T (p.Ala23Val)	DNAJB13 (A23V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2187106	NM_153614.4(DNAJB13):c.808T>A (p.Phe270Ile)	DNAJB13 (F270I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171697	NM_153614.4(DNAJB13):c.192C>T (p.Tyr64=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158176	NM_153614.4(DNAJB13):c.68+8G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116607	NM_153614.4(DNAJB13):c.632T>G (p.Ile211Ser)	DNAJB13 (I211S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084655	NM_153614.4(DNAJB13):c.665G>A (p.Arg222His)	DNAJB13 (R164H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083646	NM_153614.4(DNAJB13):c.664C>T (p.Arg222Cys)	DNAJB13 (R222C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34 +2 more	GUncertain significance
Select item 2076101	NM_153614.4(DNAJB13):c.98del (p.Pro33fs)	DNAJB13 (P33fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2075328	NM_153614.4(DNAJB13):c.416A>G (p.Gln139Arg)	DNAJB13 (Q81R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065566	NM_153614.4(DNAJB13):c.643G>A (p.Val215Ile)	DNAJB13 (V157I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054813	NM_153614.4(DNAJB13):c.606+6G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2021580	NM_153614.4(DNAJB13):c.607-4C>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990017	NM_153614.4(DNAJB13):c.172+13G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981437	NM_153614.4(DNAJB13):c.798-3C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1981133	NM_153614.4(DNAJB13):c.934C>T (p.Gln312Ter)	DNAJB13 (Q312* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1969544	NM_153614.4(DNAJB13):c.392G>A (p.Arg131Gln)	DNAJB13 (R73Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1956006	NM_153614.4(DNAJB13):c.221G>C (p.Gly74Ala)	DNAJB13 (G74A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948426	NM_153614.4(DNAJB13):c.143T>C (p.Ile48Thr)	DNAJB13 (I48T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1940345	NM_153614.4(DNAJB13):c.572G>A (p.Gly191Asp)	DNAJB13 (G133D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1938047	NM_153614.4(DNAJB13):c.488G>A (p.Arg163Lys)	DNAJB13 (R105K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917064	NM_153614.4(DNAJB13):c.833T>C (p.Met278Thr)	DNAJB13 (M278T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916612	NM_153614.4(DNAJB13):c.90G>A (p.Lys30=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1912582	NM_153614.4(DNAJB13):c.334+19C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1901044	NM_153614.4(DNAJB13):c.27C>T (p.Leu9=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1900351	NM_153614.4(DNAJB13):c.721-14C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899802	NM_153614.4(DNAJB13):c.21T>G (p.Ser7=)	DNAJB13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1805029	NM_153614.4(DNAJB13):c.92_95delinsGAG (p.His31fs)	DNAJB13 (H31fs)	Indel (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 34	GPathogenic
Select item 1723089	NM_153614.4(DNAJB13):c.335-65GC[7]	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1669660	NM_153614.4(DNAJB13):c.363A>T (p.Val121=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637971	NM_153614.4(DNAJB13):c.444G>T (p.Leu148=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599261	NM_153614.4(DNAJB13):c.19T>A (p.Ser7Thr)	DNAJB13 (S7T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1591488	NM_153614.4(DNAJB13):c.272T>G (p.Val91Gly)	DNAJB13 (V33G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 34 +1 more	GLikely benign
Select item 1589145	NM_153614.4(DNAJB13):c.831G>A (p.Gly277=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569493	NM_153614.4(DNAJB13):c.156C>T (p.Tyr52=)	DNAJB13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562649	NM_153614.4(DNAJB13):c.627A>G (p.Ala209=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562025	NM_153614.4(DNAJB13):c.303C>T (p.His101=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555265	NM_153614.4(DNAJB13):c.501C>T (p.Asn167=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527650	GRCh37/hg19 11q13.4(chr11:73444963-73777547)	C2CD3, COA4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1524684	NM_153614.4(DNAJB13):c.73C>G (p.Arg25Gly)	DNAJB13 (R25G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1445782	NM_153614.4(DNAJB13):c.578G>A (p.Arg193His)	DNAJB13 (R135H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1443482	NM_153614.4(DNAJB13):c.577C>T (p.Arg193Cys)	DNAJB13 (R135C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442004	NM_153614.4(DNAJB13):c.73C>A (p.Arg25Ser)	DNAJB13 (R25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1429403	NM_153614.4(DNAJB13):c.320A>G (p.Asn107Ser)	DNAJB13 (N49S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429253	NM_153614.4(DNAJB13):c.506A>G (p.Asp169Gly)	DNAJB13 (D111G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406487	NM_153614.4(DNAJB13):c.901C>T (p.Arg301Cys)	DNAJB13 (R243C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400940	NM_153614.4(DNAJB13):c.607G>A (p.Gly203Ser)	DNAJB13 (G145S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358611	NM_153614.4(DNAJB13):c.886A>G (p.Ile296Val)	DNAJB13 (I296V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347238	NM_153614.4(DNAJB13):c.493-3T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1320557	NM_153614.4(DNAJB13):c.335-54_335-53insCCCCGCGCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1318084	NC_000011.10:g.73950863C>T	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1317835	NM_153614.4(DNAJB13):c.335-76T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317716	NM_153614.4(DNAJB13):c.335-68_335-63del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1317548	NM_153614.4(DNAJB13):c.-16T>G	DNAJB13	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1317021	NM_153614.4(DNAJB13):c.172+287G>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317020	NC_000011.10:g.73950210C>T	DNAJB13	Single nucleotide variant	not provided	GLikely benign
Select item 1316988	NM_153614.4(DNAJB13):c.173-165del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1316859	NM_153614.4(DNAJB13):c.492+74G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316232	NM_153614.4(DNAJB13):c.721-205A>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291796	NM_153614.4(DNAJB13):c.335-112TG[21]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign

<< First< Prev

Page of 2