14889[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 1227060	NC_000003.12:g.186570629C>T	DNAJB11	Single nucleotide variant	not provided	GBenign
Select item 1294633	NM_016306.6(DNAJB11):c.-122A>G	DNAJB11, LOC129938103	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3041513	NM_016306.6(DNAJB11):c.-6G>A	DNAJB11, LOC129938103	Single nucleotide variant (5 prime UTR variant +1 more)	DNAJB11-related disorder	GLikely benign
Select item 2212422	NM_016306.6(DNAJB11):c.23C>T (p.Thr8Ile)	DNAJB11, LOC129938103 (T8I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1477431	NM_016306.6(DNAJB11):c.27T>A (p.Phe9Leu)	DNAJB11, LOC129938103 (F9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2420612	NM_016306.6(DNAJB11):c.39G>A (p.Leu13=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1431018	NM_016306.6(DNAJB11):c.42A>G (p.Leu14=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3055021	NM_016306.6(DNAJB11):c.51C>T (p.Ile17=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	DNAJB11-related disorder	GLikely benign
Select item 2419130	NM_016306.6(DNAJB11):c.60G>A (p.Val20=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1283656	NM_016306.6(DNAJB11):c.68+56G>A	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275544	NM_016306.6(DNAJB11):c.69-211T>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2760738	NM_016306.6(DNAJB11):c.69-15C>T	DNAJB11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3034430	NM_016306.6(DNAJB11):c.69-7T>G	DNAJB11	Single nucleotide variant (intron variant)	DNAJB11-related disorder	GLikely benign
Select item 1172653	NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)	DNAJB11 (R24*)	Single nucleotide variant (nonsense +1 more)	Renal cyst +1 more	GPathogenic
Select item 2550031	NM_016306.6(DNAJB11):c.98C>T (p.Pro33Leu)	DNAJB11 (P33L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053433	NM_016306.6(DNAJB11):c.100C>T (p.Arg34Ter)	DNAJB11 (R34*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2368529	NM_016306.6(DNAJB11):c.114A>G (p.Ile38Met)	DNAJB11 (I38M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1475561	NM_016306.6(DNAJB11):c.130G>T (p.Ala44Ser)	DNAJB11 (A44S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1805387	NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)	DNAJB11 (Q51*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 549847	NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	DNAJB11 (P54R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3338402	NM_016306.6(DNAJB11):c.163G>A (p.Asp55Asn)	DNAJB11 (D55N)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 549848	NM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs)	DNAJB11 (R56fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 2001554	NM_016306.6(DNAJB11):c.186A>C (p.Gln62His)	DNAJB11 (Q62H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2693302	NM_016306.6(DNAJB11):c.218C>T (p.Ala73Val)	DNAJB11 (A73V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1253587	NM_016306.6(DNAJB11):c.225+108_225+110del	DNAJB11	Deletion (intron variant)	not provided	GBenign
Select item 1283632	NM_016306.6(DNAJB11):c.225+115G>A	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223112	NM_016306.6(DNAJB11):c.225+171A>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249628	NM_016306.6(DNAJB11):c.225+173G>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228680	NM_016306.6(DNAJB11):c.226-49T>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245572	NM_016306.6(DNAJB11):c.226-41A>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3068379	NM_016306.6(DNAJB11):c.226-17C>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1614367	NM_016306.6(DNAJB11):c.226-3C>T	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 549850	NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	DNAJB11 (L77P)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3342272	NM_016306.6(DNAJB11):c.258C>G (p.Tyr86Ter)	DNAJB11 (Y86*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 2720046	NM_016306.6(DNAJB11):c.258C>T (p.Tyr86=)	DNAJB11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3233356	NM_016306.6(DNAJB11):c.266dup (p.Tyr89Ter)	DNAJB11 (Y89*)	Duplication (nonsense +1 more)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 2183236	NM_016306.6(DNAJB11):c.267T>C (p.Tyr89=)	DNAJB11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020084	NM_016306.6(DNAJB11):c.323+16A>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1598834	NM_016306.6(DNAJB11):c.323+19T>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238343	NM_016306.6(DNAJB11):c.323+93T>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264581	NM_016306.6(DNAJB11):c.323+94T>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236998	NM_016306.6(DNAJB11):c.323+164T>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250834	NM_016306.6(DNAJB11):c.324-27dup	DNAJB11	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1257105	NM_016306.6(DNAJB11):c.324-27del	DNAJB11	Deletion (intron variant)	not provided	GBenign
Select item 3350032	NM_016306.6(DNAJB11):c.324-8A>C	DNAJB11	Single nucleotide variant (intron variant)	DNAJB11-related disorder	GLikely benign
Select item 1355646	NM_016306.6(DNAJB11):c.359C>A (p.Thr120Asn)	DNAJB11 (T120N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1525235	NM_016306.6(DNAJB11):c.364C>T (p.Arg122Cys)	DNAJB11 (R122C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2287230	NM_016306.6(DNAJB11):c.380A>G (p.Asn127Ser)	DNAJB11 (N127S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2714855	NM_016306.6(DNAJB11):c.381T>C (p.Asn127=)	DNAJB11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2549070	NM_016306.6(DNAJB11):c.395G>A (p.Ser132Asn)	DNAJB11 (S132N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 972827	NM_016306.6(DNAJB11):c.400del (p.Ile134fs)	DNAJB11 (I134fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3031564	NM_016306.6(DNAJB11):c.407T>C (p.Val136Ala)	DNAJB11 (V136A)	Single nucleotide variant (missense variant +2 more)	DNAJB11-related disorder	GUncertain significance
Select item 972873	NM_016306.6(DNAJB11):c.430G>T (p.Glu144Ter)	DNAJB11 (E144*)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
Select item 3084384	NM_016306.6(DNAJB11):c.440C>T (p.Ala147Val)	DNAJB11 (A147V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2440926	NM_016306.6(DNAJB11):c.452T>G (p.Val151Gly)	DNAJB11 (V151G)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1098713	NM_016306.6(DNAJB11):c.456+3A>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1233131	NM_016306.6(DNAJB11):c.457-53G>A	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700490	NM_016306.6(DNAJB11):c.457-3T>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1954343	NM_016306.6(DNAJB11):c.468C>G (p.Asn156Lys)	DNAJB11 (N156K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3084385	NM_016306.6(DNAJB11):c.476T>C (p.Val159Ala)	DNAJB11 (V159A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 549849	NM_016306.6(DNAJB11):c.479del (p.Ala160fs)	DNAJB11 (A160fs)	Deletion (frameshift variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 2468356	NM_016306.6(DNAJB11):c.487G>T (p.Ala163Ser)	DNAJB11 (A163S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2526013	NM_016306.6(DNAJB11):c.527G>A (p.Arg176Gln)	DNAJB11 (R176Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3237351	NM_016306.6(DNAJB11):c.544_550del (p.Pro182fs)	DNAJB11 (P182fs)	Deletion (frameshift variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3038966	NM_016306.6(DNAJB11):c.579C>T (p.Cys193=)	DNAJB11	Single nucleotide variant (synonymous variant +2 more)	DNAJB11-related disorder	GLikely benign
Select item 3047011	NM_016306.6(DNAJB11):c.582C>T (p.Asp194=)	DNAJB11	Single nucleotide variant (synonymous variant +2 more)	DNAJB11-related disorder	GLikely benign
Select item 2261875	NM_016306.6(DNAJB11):c.583G>C (p.Glu195Gln)	DNAJB11 (E195Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1286720	NM_016306.6(DNAJB11):c.600-170G>A	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688959	NM_016306.6(DNAJB11):c.600-7A>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1328423	NM_016306.6(DNAJB11):c.600-2A>C	DNAJB11	Single nucleotide variant (splice acceptor variant)	Enlarged kidney +2 more	GLikely pathogenic
Select item 549851	NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)	DNAJB11 (R206* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 3236224	NM_016306.6(DNAJB11):c.635_636del (p.Ile212fs)	DNAJB11 (I120fs +1 more)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3358340	NM_016306.6(DNAJB11):c.656G>C (p.Gly219Ala)	DNAJB11 (G127A +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder	GUncertain significance
Select item 2682855	NM_016306.6(DNAJB11):c.682G>T (p.Gly228Cys)	DNAJB11 (G136C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3022375	NM_016306.6(DNAJB11):c.682+18G>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228752	NM_016306.6(DNAJB11):c.682+39T>C	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1611489	NM_016306.6(DNAJB11):c.683-8C>G	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3055099	NM_016306.6(DNAJB11):c.685G>A (p.Glu229Lys)	DNAJB11 (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder	GUncertain significance
Select item 2218067	NM_016306.6(DNAJB11):c.693C>G (p.His231Gln)	DNAJB11 (H139Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2873944	NM_016306.6(DNAJB11):c.705G>T (p.Glu235Asp)	DNAJB11 (E143D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2281222	NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)	DNAJB11 (R150* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 1258388	NM_016306.6(DNAJB11):c.740+121G>T	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240918	NM_016306.6(DNAJB11):c.741-177G>A	DNAJB11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 992421	NM_016306.6(DNAJB11):c.743A>T (p.His248Leu)	DNAJB11 (H156L +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1401654	NM_016306.6(DNAJB11):c.748A>G (p.Ile250Val)	DNAJB11 (I158V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3342267	NM_016306.6(DNAJB11):c.763_767del (p.Arg254_Gly255insTer)	DNAJB11	Microsatellite (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic

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