MPLKIP[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 151971	GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1	CDK13, CDK13-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148619	GRCh38/hg38 7p14.1(chr7:39670747-40871336)x3	LOC126860004, LOC126860005 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 1846	NC_000007.14:g.(40116368_?)_(?_40134601)del	LOC129998295, MPLKIP	Deletion	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 1187139	NM_138701.4(MPLKIP):c.*226G>A	MPLKIP	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1235543	NM_138701.4(MPLKIP):c.*153A>C	MPLKIP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1060067	NM_138701.4(MPLKIP):c.532T>C (p.Phe178Leu)	MPLKIP (F178L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176741	NM_138701.4(MPLKIP):c.530A>G (p.Tyr177Cys)	MPLKIP (Y177C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3202401	NM_138701.4(MPLKIP):c.529T>C (p.Tyr177His)	MPLKIP (Y177H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959140	NM_138701.4(MPLKIP):c.517A>G (p.Lys173Glu)	MPLKIP (K173E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1444524	NM_138701.4(MPLKIP):c.517A>C (p.Lys173Gln)	MPLKIP (K173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285746	NM_138701.4(MPLKIP):c.511A>C (p.Thr171Pro)	MPLKIP (T171P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218158	NM_138701.4(MPLKIP):c.505dup (p.Thr169fs)	MPLKIP (T169fs)	Duplication (frameshift variant)	Trichothiodystrophy 1, photosensitive	GPathogenic
Select item 2097092	NM_138701.4(MPLKIP):c.502C>T (p.Gln168Ter)	MPLKIP (Q168*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2898287	NM_138701.4(MPLKIP):c.497A>G (p.Asn166Ser)	MPLKIP (N166S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548559	NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile)	MPLKIP (S165I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1062026	NM_138701.4(MPLKIP):c.487C>A (p.Gln163Lys)	MPLKIP (Q163K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089854	NM_138701.4(MPLKIP):c.486A>G (p.Gln162=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965452	NM_138701.4(MPLKIP):c.468T>A (p.Ser156=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1646250	NM_138701.4(MPLKIP):c.465A>G (p.Val155=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1441614	NM_138701.4(MPLKIP):c.455dup (p.Glu153fs)	MPLKIP (E153fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1649018	NM_138701.4(MPLKIP):c.452G>C (p.Gly151Ala)	MPLKIP (G151A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1467406	NM_138701.4(MPLKIP):c.451G>A (p.Gly151Ser)	MPLKIP (G151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1513630	NM_138701.4(MPLKIP):c.447G>A (p.Trp149Ter)	MPLKIP (W149*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1844	NM_138701.4(MPLKIP):c.430A>G (p.Met144Val)	MPLKIP (M144V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1933751	NM_138701.4(MPLKIP):c.429A>G (p.Ser143=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718761	NM_138701.4(MPLKIP):c.423G>A (p.Lys141=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812338	NM_138701.4(MPLKIP):c.401A>G (p.Asn134Ser)	MPLKIP (N134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242125	NM_138701.4(MPLKIP):c.397delinsGGA (p.Ser133fs)	MPLKIP (S133fs)	Indel (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GLikely pathogenic
Select item 1986671	NM_138701.4(MPLKIP):c.385G>C (p.Glu129Gln)	MPLKIP (E129Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871506	NM_138701.4(MPLKIP):c.382A>C (p.Arg128=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953936	NM_138701.4(MPLKIP):c.377G>A (p.Arg126His)	MPLKIP (R126H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978327	NM_138701.4(MPLKIP):c.372A>C (p.Ser124=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929397	NM_138701.4(MPLKIP):c.372del (p.Arg126fs)	MPLKIP (R126fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2853984	NM_138701.4(MPLKIP):c.371C>A (p.Ser124Ter)	MPLKIP (S124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1502302	NM_138701.4(MPLKIP):c.370T>C (p.Ser124Pro)	MPLKIP (S124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895209	NM_138701.4(MPLKIP):c.345T>C (p.Ser115=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951460	NM_138701.4(MPLKIP):c.340-7dup	MPLKIP	Duplication (intron variant)	not provided	GBenign
Select item 2816834	NM_138701.4(MPLKIP):c.340-7T>C	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659660	NM_138701.4(MPLKIP):c.340-15A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200970	NM_138701.4(MPLKIP):c.340-54del	MPLKIP	Deletion (intron variant)	not provided	GLikely benign
Select item 1183077	NM_138701.4(MPLKIP):c.340-123A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289953	NM_138701.4(MPLKIP):c.340-139A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287767	NM_138701.4(MPLKIP):c.339+148A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1928455	NM_138701.4(MPLKIP):c.339+14C>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734604	NM_138701.4(MPLKIP):c.339+4ATA[2]	MPLKIP	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 747907	NM_138701.4(MPLKIP):c.339+10A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1545680	NM_138701.4(MPLKIP):c.339+9A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 224867	NM_138701.4(MPLKIP):c.339+1G>A	MPLKIP	Single nucleotide variant (splice donor variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 2988252	NM_138701.4(MPLKIP):c.330C>T (p.Thr110=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420706	NM_138701.4(MPLKIP):c.315A>G (p.Pro105=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438447	NM_138701.4(MPLKIP):c.311C>A (p.Ser104Tyr)	MPLKIP (S104Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2003453	NM_138701.4(MPLKIP):c.304G>A (p.Gly102Ser)	MPLKIP (G102S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164613	NM_138701.4(MPLKIP):c.303C>T (p.Phe101=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815461	NM_138701.4(MPLKIP):c.296del (p.Gln99fs)	MPLKIP (Q99fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 722260	NM_138701.4(MPLKIP):c.291C>T (p.Ser97=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072494	NM_138701.4(MPLKIP):c.290C>A (p.Ser97Tyr)	MPLKIP (S97Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976257	NM_138701.4(MPLKIP):c.285G>A (p.Ala95=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781623	NM_138701.4(MPLKIP):c.282C>G (p.Pro94=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061612	NM_138701.4(MPLKIP):c.279C>T (p.Ser93=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1003890	NM_138701.4(MPLKIP):c.278C>A (p.Ser93Tyr)	MPLKIP (S93Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1847	NM_138701.4(MPLKIP):c.277del (p.Ser93fs)	MPLKIP (S93fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1908839	NM_138701.4(MPLKIP):c.270C>T (p.Tyr90=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415978	NM_138701.4(MPLKIP):c.267C>T (p.Ser89=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499425	NM_138701.4(MPLKIP):c.259C>G (p.Pro87Ala)	MPLKIP (P87A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993156	NM_138701.4(MPLKIP):c.248C>T (p.Pro83Leu)	MPLKIP (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963025	NM_138701.4(MPLKIP):c.234C>T (p.Phe78=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967091	NM_138701.4(MPLKIP):c.231G>C (p.Arg77=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918999	NM_138701.4(MPLKIP):c.229C>A (p.Arg77=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332725	NM_138701.4(MPLKIP):c.229del (p.Arg77fs)	MPLKIP (R77fs)	Deletion (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GPathogenic
Select item 2099442	NM_138701.4(MPLKIP):c.227G>A (p.Gly76Asp)	MPLKIP (G76D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964738	NM_138701.4(MPLKIP):c.227G>T (p.Gly76Val)	MPLKIP (G76V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121469	NM_138701.4(MPLKIP):c.224G>A (p.Gly75Glu)	MPLKIP (G75E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026806	NM_138701.4(MPLKIP):c.221dup (p.Arg77fs)	MPLKIP (R77fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1673818	NM_138701.4(MPLKIP):c.222G>A (p.Pro74=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668672	NM_138701.4(MPLKIP):c.222G>C (p.Pro74=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074184	NM_138701.4(MPLKIP):c.219C>G (p.Phe73Leu)	LOC129998295, MPLKIP (F73L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1921759	NM_138701.4(MPLKIP):c.219C>T (p.Phe73=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940326	NM_138701.4(MPLKIP):c.216C>G (p.Ser72Arg)	LOC129998295, MPLKIP (S72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496700	NM_138701.4(MPLKIP):c.215G>A (p.Ser72Asn)	LOC129998295, MPLKIP (S72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922001	NM_138701.4(MPLKIP):c.210C>T (p.Gly70=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490333	NM_138701.4(MPLKIP):c.208G>T (p.Gly70Cys)	MPLKIP, LOC129998295 (G70C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431846	NM_138701.4(MPLKIP):c.166_186del (p.Pro56_Gly62del)	LOC129998295, MPLKIP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 758506	NM_138701.4(MPLKIP):c.186G>A (p.Gly62=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783210	NM_138701.4(MPLKIP):c.180G>C (p.Pro60=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1516343	NM_138701.4(MPLKIP):c.179C>T (p.Pro60Leu)	LOC129998295, MPLKIP (P60L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302917	NM_138701.4(MPLKIP):c.177G>T (p.Arg59Ser)	LOC129998295, MPLKIP (R59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280512	NM_138701.4(MPLKIP):c.173dup (p.Ser58_Arg59insTer)	LOC129998295, MPLKIP	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2094635	NM_138701.4(MPLKIP):c.173C>T (p.Ser58Phe)	LOC129998295, MPLKIP (S58F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176880	NM_138701.4(MPLKIP):c.170G>A (p.Arg57Gln)	MPLKIP, LOC129998295 (R57Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1629997	NM_138701.4(MPLKIP):c.165G>A (p.Gly55=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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