374407[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152835	GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3	COA4, DNAJB13 +11 more	Copy number gain	See cases	GUncertain significance
Select item 157207	NM_001267803.1(PAAF1):c.451_70114dup	LOC130006402, DNAJB13 +8 more	Duplication	Preeclampsia	Gnot provided
Select item 1280578	NC_000011.10:g.73950206G>A	DNAJB13	Single nucleotide variant	not provided	GBenign
Select item 1317020	NC_000011.10:g.73950210C>T	DNAJB13	Single nucleotide variant	not provided	GLikely benign
Select item 1225354	NC_000011.10:g.73950411C>T	DNAJB13	Single nucleotide variant	not provided	GBenign
Select item 1236519	NC_000011.10:g.73950645A>T	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1259546	NC_000011.10:g.73950858G>C	DNAJB13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1318084	NC_000011.10:g.73950863C>T	DNAJB13	Single nucleotide variant (genic upstream transcript 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 3033156	NM_153614.4(DNAJB13):c.-9T>C	DNAJB13	Single nucleotide variant (5 prime UTR variant)	DNAJB13-related disorder	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	GBenign/Likely benign
Select item 1899802	NM_153614.4(DNAJB13):c.21T>G (p.Ser7=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 3084391	NM_153614.4(DNAJB13):c.40A>G (p.Asn14Asp)	DNAJB13 (N14D)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 253329	NM_153614.4(DNAJB13):c.68+1G>C	DNAJB13	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 34	GPathogenic
Select item 2158176	NM_153614.4(DNAJB13):c.68+8G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280806	NM_153614.4(DNAJB13):c.68+91C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247658	NM_153614.4(DNAJB13):c.68+181A>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235737	NM_153614.4(DNAJB13):c.69-317G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259292	NM_153614.4(DNAJB13):c.69-52C>A	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271046	NM_153614.4(DNAJB13):c.69-28A>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 759973	NM_153614.4(DNAJB13):c.87T>C (p.Leu29=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 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 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 2076101	NM_153614.4(DNAJB13):c.98del (p.Pro33fs)	DNAJB13 (P33fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 977601	NM_153614.4(DNAJB13):c.106T>G (p.Ser36Ala)	DNAJB13 (S36A)	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 708106	NM_153614.4(DNAJB13):c.112G>A (p.Glu38Lys)	DNAJB13 (E38K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 1569493	NM_153614.4(DNAJB13):c.156C>T (p.Tyr52=)	DNAJB13	Single nucleotide variant (5 prime UTR variant +1 more)	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 1990017	NM_153614.4(DNAJB13):c.172+13G>A	DNAJB13	Single nucleotide variant (intron 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 1316988	NM_153614.4(DNAJB13):c.173-165del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1260462	NM_153614.4(DNAJB13):c.173-106G>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2697437	NM_153614.4(DNAJB13):c.173-13T>C	DNAJB13	Single nucleotide variant (intron 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 585050	NM_153614.4(DNAJB13):c.173-1G>A	DNAJB13	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 34	Gnot provided
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 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 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 2171697	NM_153614.4(DNAJB13):c.192C>T (p.Tyr64=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 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 1255518	NM_153614.4(DNAJB13):c.279T>C (p.His93=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 1562025	NM_153614.4(DNAJB13):c.303C>T (p.His101=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 753347	NM_153614.4(DNAJB13):c.334+7G>A	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 2975360	NM_153614.4(DNAJB13):c.334+13C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964070	NM_153614.4(DNAJB13):c.334+17C>T	DNAJB13	Single nucleotide variant (intron variant)	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 1287900	NM_153614.4(DNAJB13):c.334+95_334+99del	DNAJB13	Deletion (intron variant)	not provided	GBenign
Select item 1269074	NM_153614.4(DNAJB13):c.334+96TTATT[2]	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1253780	NM_153614.4(DNAJB13):c.334+277T>G	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246383	NM_153614.4(DNAJB13):c.335-289G>T	DNAJB13, LOC130006402	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291796	NM_153614.4(DNAJB13):c.335-112TG[21]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1280031	NM_153614.4(DNAJB13):c.335-112TG[22]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1276555	NM_153614.4(DNAJB13):c.335-112TG[18]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1250535	NM_153614.4(DNAJB13):c.335-112TG[19]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1238091	NM_153614.4(DNAJB13):c.335-112TG[20]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1237923	NM_153614.4(DNAJB13):c.335-112TG[23]	DNAJB13, LOC130006403	Microsatellite (intron variant)	not provided	GBenign
Select item 1317835	NM_153614.4(DNAJB13):c.335-76T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260911	NM_153614.4(DNAJB13):c.335-74T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235959	NM_153614.4(DNAJB13):c.335-72T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340976	NM_153614.4(DNAJB13):c.335-69_335-68insCGCG	DNAJB13	Insertion (intron variant)	not provided	GLikely benign
Select item 1229049	NM_153614.4(DNAJB13):c.335-70T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317716	NM_153614.4(DNAJB13):c.335-68_335-63del	DNAJB13	Deletion (intron variant)	not provided	GLikely benign
Select item 1265909	NM_153614.4(DNAJB13):c.335-68T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723089	NM_153614.4(DNAJB13):c.335-65GC[7]	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1278867	NM_153614.4(DNAJB13):c.335-66T>C	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246535	NM_153614.4(DNAJB13):c.335-65GC[5]	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1271365	NM_153614.4(DNAJB13):c.335-64C>T	DNAJB13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320557	NM_153614.4(DNAJB13):c.335-54_335-53insCCCCGCGCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291624	NM_153614.4(DNAJB13):c.335-60_335-59insCCGC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 1242584	NM_153614.4(DNAJB13):c.335-60_335-59insCCCCGC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 1237587	NM_153614.4(DNAJB13):c.335-56_335-55insCCCCGCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1178786	NM_153614.4(DNAJB13):c.335-58_335-57insCCCCGCGC	DNAJB13	Microsatellite (intron variant)	not provided	GBenign
Select item 1174376	NM_153614.4(DNAJB13):c.335-62_335-61insCC	DNAJB13	Insertion (intron variant)	not provided	GBenign
Select item 2430878	NM_153614.4(DNAJB13):c.335-60C>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 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 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 1669660	NM_153614.4(DNAJB13):c.363A>T (p.Val121=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711073	NM_153614.4(DNAJB13):c.374T>G (p.Phe125Cys)	DNAJB13 (F125C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1969544	NM_153614.4(DNAJB13):c.392G>A (p.Arg131Gln)	DNAJB13 (R73Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 741977	NM_153614.4(DNAJB13):c.439T>A (p.Ser147Thr)	DNAJB13 (S147T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1637971	NM_153614.4(DNAJB13):c.444G>T (p.Leu148=)	DNAJB13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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