KLHDC4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	ACSF3, ADAD2 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC130059708, LOC130059709 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	LINC01081, LINC01082 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	ADAD2, ARLNC1 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	ACSF3, ADAD2 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	ACSF3, ADAD2 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	ACSF3, ADAD2 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	ACSF3, ADAD2 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	C16orf95, C16orf95-DT +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 151023	GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1	C16orf95, C16orf95-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	C16orf95, C16orf95-DT +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 146319	GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1	C16orf95, C16orf95-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 155590	GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1	C16orf95, C16orf95-DT +33 more	Copy number loss	See cases	GUncertain significance
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 154655	GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1	FBXO31, JPH3 +29 more	Copy number loss	See cases	GUncertain significance
Select item 2252546	NM_017566.4(KLHDC4):c.1522G>A (p.Asp508Asn)	KLHDC4 (D451N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341978	NM_017566.4(KLHDC4):c.1516G>C (p.Gly506Arg)	KLHDC4 (G449R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524407	NM_017566.4(KLHDC4):c.1510G>A (p.Glu504Lys)	KLHDC4 (E323K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273897	NM_017566.4(KLHDC4):c.1467G>T (p.Glu489Asp)	KLHDC4 (E432D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265124	NM_017566.4(KLHDC4):c.1427C>T (p.Ala476Val)	KLHDC4 (A295V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2237130	NM_017566.4(KLHDC4):c.1418C>A (p.Ala473Glu)	KLHDC4 (A473E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3115378	NM_017566.4(KLHDC4):c.1367G>A (p.Arg456His)	KLHDC4 (R399H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208668	NM_017566.4(KLHDC4):c.1366C>T (p.Arg456Cys)	KLHDC4 (R456C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316156	NM_017566.4(KLHDC4):c.1364A>G (p.Asp455Gly)	KLHDC4 (D398G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115377	NM_017566.4(KLHDC4):c.1337T>A (p.Val446Asp)	KLHDC4 (V415D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544298	NM_017566.4(KLHDC4):c.1294C>T (p.Arg432Cys)	KLHDC4 (R251C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588804	NM_017566.4(KLHDC4):c.1291C>G (p.Pro431Ala)	KLHDC4 (P374A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115376	NM_017566.4(KLHDC4):c.1270A>G (p.Ser424Gly)	KLHDC4 (S243G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2256821	NM_017566.4(KLHDC4):c.1267G>A (p.Gly423Ser)	KLHDC4 (G242S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2550752	NM_017566.4(KLHDC4):c.1264G>T (p.Ala422Ser)	KLHDC4 (A241S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227322	NM_017566.4(KLHDC4):c.1235G>A (p.Arg412Gln)	KLHDC4 (R231Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380156	NM_017566.4(KLHDC4):c.1183G>A (p.Val395Met)	KLHDC4 (V338M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265918	NM_017566.4(KLHDC4):c.1126G>C (p.Ala376Pro)	KLHDC4 (A345P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2460445	NM_017566.4(KLHDC4):c.1124G>T (p.Gly375Val)	KLHDC4 (G318V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561204	NM_017566.4(KLHDC4):c.1119T>G (p.Cys373Trp)	KLHDC4 (C373W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115375	NM_017566.4(KLHDC4):c.1112C>T (p.Pro371Leu)	KLHDC4 (P314L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2281837	NM_017566.4(KLHDC4):c.1075C>T (p.Arg359Trp)	KLHDC4 (R328W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115374	NM_017566.4(KLHDC4):c.1069C>T (p.Arg357Cys)	KLHDC4 (R300C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482420	NM_017566.4(KLHDC4):c.1046G>A (p.Gly349Glu)	KLHDC4 (G168E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371453	NM_017566.4(KLHDC4):c.1021C>T (p.Arg341Cys)	KLHDC4 (R284C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509931	NM_017566.4(KLHDC4):c.1009G>A (p.Ala337Thr)	KLHDC4 (A280T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346644	NM_017566.4(KLHDC4):c.1006G>A (p.Asp336Asn)	KLHDC4 (D279N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390884	NM_017566.4(KLHDC4):c.979G>A (p.Glu327Lys)	KLHDC4 (E270K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333173	NM_017566.4(KLHDC4):c.974C>T (p.Ser325Leu)	KLHDC4 (S268L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455144	NM_017566.4(KLHDC4):c.937G>A (p.Gly313Arg)	KLHDC4 (G256R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115385	NM_017566.4(KLHDC4):c.914C>T (p.Pro305Leu)	KLHDC4 (P305L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302945	NM_017566.4(KLHDC4):c.911C>T (p.Ala304Val)	KLHDC4 (A247V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342065	NM_017566.4(KLHDC4):c.901G>A (p.Val301Met)	KLHDC4 (V301M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290952	NM_017566.4(KLHDC4):c.866C>T (p.Ser289Leu)	KLHDC4 (S108L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322797	NM_017566.4(KLHDC4):c.854G>A (p.Arg285Gln)	KLHDC4 (R254Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229066	NM_017566.4(KLHDC4):c.853C>T (p.Arg285Trp)	KLHDC4 (R104W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351535	NM_017566.4(KLHDC4):c.826G>A (p.Gly276Arg)	KLHDC4 (G95R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544555	NM_017566.4(KLHDC4):c.799G>C (p.Asp267His)	KLHDC4 (D210H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232898	NM_017566.4(KLHDC4):c.790C>T (p.Arg264Trp)	KLHDC4 (R207W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292219	NM_017566.4(KLHDC4):c.736G>C (p.Val246Leu)	KLHDC4 (V246L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370460	NM_017566.4(KLHDC4):c.716C>T (p.Thr239Ile)	KLHDC4 (T208I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623924	NM_017566.4(KLHDC4):c.683C>T (p.Pro228Leu)	KLHDC4 (P47L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410400	NM_017566.4(KLHDC4):c.611A>G (p.Tyr204Cys)	KLHDC4 (Y204C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616697	NM_017566.4(KLHDC4):c.551C>T (p.Ala184Val)	KLHDC4 (A3V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398389	NM_017566.4(KLHDC4):c.542G>A (p.Arg181Gln)	KLHDC4 (R181Q +1 more)	Single nucleotide variant (intron variant +3 more)	not specified	GUncertain significance
Select item 2244712	NM_017566.4(KLHDC4):c.529C>T (p.Arg177Trp)	KLHDC4 (R177W +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2394840	NM_017566.4(KLHDC4):c.509C>T (p.Ser170Leu)	KLHDC4 (S113L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2646963	NM_017566.4(KLHDC4):c.507A>G (p.Lys169=)	KLHDC4	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2380021	NM_017566.4(KLHDC4):c.499C>G (p.Gln167Glu)	KLHDC4 (Q110E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216688	NM_017566.4(KLHDC4):c.458A>G (p.Lys153Arg)	KLHDC4 (K153R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218465	NM_017566.4(KLHDC4):c.388G>C (p.Gly130Arg)	KLHDC4 (G130R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470508	NM_017566.4(KLHDC4):c.358T>C (p.Cys120Arg)	KLHDC4 (C120R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208298	NM_017566.4(KLHDC4):c.332A>G (p.Asp111Gly)	KLHDC4 (D111G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115383	NM_017566.4(KLHDC4):c.308G>T (p.Arg103Ile)	KLHDC4 (R103I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363681	NM_017566.4(KLHDC4):c.293A>G (p.Tyr98Cys)	KLHDC4 (Y41C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306162	NM_017566.4(KLHDC4):c.281A>T (p.Tyr94Phe)	KLHDC4 (Y37F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397268	NM_017566.4(KLHDC4):c.260A>G (p.Asn87Ser)	KLHDC4 (N87S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3115382	NM_017566.4(KLHDC4):c.174C>G (p.Cys58Trp)	KLHDC4 (C58W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2266972	NM_017566.4(KLHDC4):c.157A>G (p.Thr53Ala)	KLHDC4 (T53A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2209730	NM_017566.4(KLHDC4):c.157A>C (p.Thr53Pro)	KLHDC4 (T53P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3115381	NM_017566.4(KLHDC4):c.150G>T (p.Arg50Ser)	KLHDC4 (R50S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2372749	NM_017566.4(KLHDC4):c.146A>G (p.Lys49Arg)	KLHDC4 (K49R)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2287926	NM_017566.4(KLHDC4):c.133A>G (p.Thr45Ala)	KLHDC4 (T45A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2237890	NM_017566.4(KLHDC4):c.86C>T (p.Ser29Leu)	KLHDC4 (S29L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461959	NM_017566.4(KLHDC4):c.85T>C (p.Ser29Pro)	KLHDC4 (S29P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115384	NM_017566.4(KLHDC4):c.34C>A (p.Arg12Ser)	KLHDC4 (R12S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2367782	NM_017566.4(KLHDC4):c.31G>C (p.Gly11Arg)	KLHDC4 (G11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2365437	NM_017566.4(KLHDC4):c.19A>C (p.Lys7Gln)	KLHDC4 (K7Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685586	GRCh37/hg19 16q24.2(chr16:87661094-87742413)x1	JPH3, KLHDC4	Copy number loss	not provided	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	FANCA, MC1R +45 more	Duplication	Primary ciliary dyskinesia 33 +1 more	GUncertain significance

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