25556[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281008	NM_005258.3(GCHFR):c.158C>A (p.Pro53His)	DNAJC17, GCHFR (P53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099029	NM_005258.3(GCHFR):c.185G>A (p.Arg62His)	DNAJC17, GCHFR (R62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281009	NM_005258.3(GCHFR):c.196C>T (p.Arg66Cys)	DNAJC17, GCHFR (R66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266868	NM_005258.3(GCHFR):c.238T>C (p.Cys80Arg)	DNAJC17, GCHFR (C80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1911496	NM_018163.3(DNAJC17):c.915G>T (p.Ter305Tyr)	DNAJC17	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1949982	NM_018163.3(DNAJC17):c.912G>A (p.Thr304=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1390095	NM_018163.3(DNAJC17):c.910A>G (p.Thr304Ala)	DNAJC17 (T304A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803731	NM_018163.3(DNAJC17):c.909T>C (p.Pro303=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273107	NM_018163.3(DNAJC17):c.904C>T (p.Pro302Ser)	DNAJC17 (P302S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1908261	NM_018163.3(DNAJC17):c.904C>G (p.Pro302Ala)	DNAJC17 (P302A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356529	NM_018163.3(DNAJC17):c.901G>A (p.Gly301Arg)	DNAJC17 (G301R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721974	NM_018163.3(DNAJC17):c.897G>A (p.Gln299=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103696	NM_018163.3(DNAJC17):c.892G>A (p.Asp298Asn)	DNAJC17 (D298N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084521	NM_018163.3(DNAJC17):c.877C>G (p.Arg293Gly)	DNAJC17 (R293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1976641	NM_018163.3(DNAJC17):c.870G>T (p.Leu290=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699040	NM_018163.3(DNAJC17):c.863A>C (p.Gln288Pro)	DNAJC17 (Q288P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1995208	NM_018163.3(DNAJC17):c.859C>T (p.Arg287Trp)	DNAJC17 (R287W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046946	NM_018163.3(DNAJC17):c.856G>A (p.Glu286Lys)	DNAJC17 (E286K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361751	NM_018163.3(DNAJC17):c.856G>C (p.Glu286Gln)	DNAJC17 (E286Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2896215	NM_018163.3(DNAJC17):c.855C>G (p.Ala285=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001764	NM_018163.3(DNAJC17):c.855C>A (p.Ala285=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033143	NM_018163.3(DNAJC17):c.823_852dup (p.Ala284_Ala285insSerLeuValMetMetArgMetArgGlnAla)	DNAJC17	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1895859	NM_018163.3(DNAJC17):c.852G>A (p.Ala284=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596024	NM_018163.3(DNAJC17):c.832A>G (p.Met278Val)	DNAJC17 (M278V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2888293	NM_018163.3(DNAJC17):c.825C>T (p.Ser275=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868358	NM_018163.3(DNAJC17):c.817_819del (p.Tyr273del)	DNAJC17 (Y273del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2781712	NM_018163.3(DNAJC17):c.818A>C (p.Tyr273Ser)	DNAJC17 (Y273S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963730	NM_018163.3(DNAJC17):c.811_812del (p.Arg271fs)	DNAJC17 (R271fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3273109	NM_018163.3(DNAJC17):c.811A>G (p.Arg271Gly)	DNAJC17 (R271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1663496	NM_018163.3(DNAJC17):c.807A>C (p.Ser269=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979949	NM_018163.3(DNAJC17):c.804G>A (p.Leu268=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095409	NM_018163.3(DNAJC17):c.797C>T (p.Ser266Leu)	DNAJC17 (S266L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970786	NM_018163.3(DNAJC17):c.794G>T (p.Gly265Val)	DNAJC17 (G265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187051	NM_018163.3(DNAJC17):c.793-5G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645185	NM_018163.3(DNAJC17):c.793-6C>G	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931878	NM_018163.3(DNAJC17):c.793-16_793-6del	DNAJC17	Deletion (intron variant)	not provided	GLikely benign
Select item 2016216	NM_018163.3(DNAJC17):c.793-10T>C	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114982	NM_018163.3(DNAJC17):c.793-27_793-11del	DNAJC17	Deletion (intron variant)	not provided	GUncertain significance
Select item 1918094	NM_018163.3(DNAJC17):c.793-30_793-14del	DNAJC17	Deletion (intron variant)	not provided	GLikely benign
Select item 1950858	NM_018163.3(DNAJC17):c.793-16C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3135671	NM_001130448.3(C15orf62):c.71G>A (p.Arg24Gln)	C15orf62, DNAJC17 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1923381	NM_018163.3(DNAJC17):c.792+18G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1586414	NM_018163.3(DNAJC17):c.792+18G>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869152	NM_018163.3(DNAJC17):c.792+14C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966411	NM_018163.3(DNAJC17):c.792+11A>G	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563509	NM_018163.3(DNAJC17):c.771C>T (p.Arg257=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943205	NM_018163.3(DNAJC17):c.770G>A (p.Arg257His)	DNAJC17 (R257H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719278	NM_018163.3(DNAJC17):c.769C>T (p.Arg257Cys)	DNAJC17 (R257C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889107	NM_018163.3(DNAJC17):c.747A>G (p.Gly249=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1427359	NM_018163.3(DNAJC17):c.709C>G (p.Leu237Val)	DNAJC17 (L237V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141849	NM_018163.3(DNAJC17):c.684G>A (p.Glu228=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940505	NM_018163.3(DNAJC17):c.682-18A>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930911	NM_018163.3(DNAJC17):c.681+16G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2192567	NM_018163.3(DNAJC17):c.681+7G>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1440675	NM_018163.3(DNAJC17):c.681G>A (p.Ala227=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1429401	NM_018163.3(DNAJC17):c.680C>T (p.Ala227Val)	DNAJC17 (A227V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188850	NM_018163.3(DNAJC17):c.673A>G (p.Lys225Glu)	DNAJC17 (K225E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145941	NM_018163.3(DNAJC17):c.671T>A (p.Val224Asp)	DNAJC17 (V224D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916760	NM_018163.3(DNAJC17):c.670G>A (p.Val224Ile)	DNAJC17 (V224I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554560	NM_018163.3(DNAJC17):c.669C>T (p.Thr223=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547560	NM_018163.3(DNAJC17):c.648T>C (p.Thr216=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160190	NM_018163.3(DNAJC17):c.644G>A (p.Gly215Asp)	DNAJC17 (G215D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390041	NM_018163.3(DNAJC17):c.637A>G (p.Lys213Glu)	DNAJC17 (K213E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993308	NM_018163.3(DNAJC17):c.625C>G (p.Leu209Val)	DNAJC17 (L209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902980	NM_018163.3(DNAJC17):c.618C>A (p.Asn206Lys)	DNAJC17 (N206K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005803	NM_018163.3(DNAJC17):c.618C>T (p.Asn206=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640998	NM_018163.3(DNAJC17):c.610G>C (p.Val204Leu)	DNAJC17 (V204L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2964848	NM_018163.3(DNAJC17):c.601-16C>G	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956210	NM_018163.3(DNAJC17):c.601-17C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2121116	NM_018163.3(DNAJC17):c.600+19C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911589	NM_018163.3(DNAJC17):c.600+16G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448459	NM_018163.3(DNAJC17):c.600+4G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1918963	NM_018163.3(DNAJC17):c.600+3C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1584862	NM_018163.3(DNAJC17):c.588G>A (p.Arg196=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361372	NM_018163.3(DNAJC17):c.587G>A (p.Arg196Gln)	DNAJC17 (R196Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2063132	NM_018163.3(DNAJC17):c.586C>T (p.Arg196Trp)	DNAJC17 (R196W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2191015	NM_018163.3(DNAJC17):c.577G>A (p.Val193Ile)	DNAJC17 (V193I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616873	NM_018163.3(DNAJC17):c.576C>T (p.Asp192=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1946327	NM_018163.3(DNAJC17):c.563G>A (p.Gly188Asp)	DNAJC17 (G188D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133267	NM_018163.3(DNAJC17):c.552G>A (p.Glu184=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800323	NM_018163.3(DNAJC17):c.542A>G (p.Lys181Arg)	DNAJC17 (K181R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079373	NM_018163.3(DNAJC17):c.536G>A (p.Cys179Tyr)	DNAJC17 (C179Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901421	NM_018163.3(DNAJC17):c.523-18A>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2047362	NM_018163.3(DNAJC17):c.522+2T>G	DNAJC17	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2756743	NM_018163.3(DNAJC17):c.517C>T (p.Leu173=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2496554	NM_018163.3(DNAJC17):c.506G>A (p.Gly169Glu)	DNAJC17 (G169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1549544	NM_018163.3(DNAJC17):c.495T>C (p.Thr165=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076941	NM_018163.3(DNAJC17):c.482A>G (p.Lys161Arg)	DNAJC17 (K161R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2131482	NM_018163.3(DNAJC17):c.479-19_479-17del	DNAJC17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1940712	NM_018163.3(DNAJC17):c.478+19G>A	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895960	NM_018163.3(DNAJC17):c.478+18C>T	DNAJC17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898649	NM_018163.3(DNAJC17):c.471G>T (p.Arg157Ser)	DNAJC17 (R157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601221	NM_018163.3(DNAJC17):c.463G>A (p.Asp155Asn)	DNAJC17 (D155N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1919867	NM_018163.3(DNAJC17):c.461G>A (p.Arg154His)	DNAJC17 (R154H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006300	NM_018163.3(DNAJC17):c.460C>T (p.Arg154Cys)	DNAJC17 (R154C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626508	NM_018163.3(DNAJC17):c.459G>A (p.Glu153=)	DNAJC17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903470	NM_018163.3(DNAJC17):c.452G>A (p.Arg151His)	DNAJC17 (R151H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982625	NM_018163.3(DNAJC17):c.452G>T (p.Arg151Leu)	DNAJC17 (R151L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2995301	NM_018163.3(DNAJC17):c.451C>T (p.Arg151Cys)	DNAJC17 (R151C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707636	NM_018163.3(DNAJC17):c.451C>G (p.Arg151Gly)	DNAJC17 (R151G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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