ClinVar for Gene (Select 136647) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295704	NM_138701.4(MPLKIP):c.154C>T (p.Pro52Ser)	LOC129998295, MPLKIP (P52S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295703	NM_138701.4(MPLKIP):c.5A>G (p.Gln2Arg)	MPLKIP (Q2R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255600	NM_138701.4(MPLKIP):c.135C>G (p.Tyr45Ter)	MPLKIP (Y45*)	Single nucleotide variant (nonsense)	Trichothiodystrophy 4, nonphotosensitive	GLikely pathogenic
Select item 3242125	NM_138701.4(MPLKIP):c.397delinsGGA (p.Ser133fs)	MPLKIP (S133fs)	Indel (frameshift variant)	Trichothiodystrophy 4, nonphotosensitive	GLikely pathogenic
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 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 3050831	NM_138701.4(MPLKIP):c.42T>G (p.Pro14=)	MPLKIP	Single nucleotide variant (synonymous variant)	MPLKIP-related disorder	GLikely benign
Select item 3004610	NM_138701.4(MPLKIP):c.85G>A (p.Gly29Arg)	MPLKIP (G29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988252	NM_138701.4(MPLKIP):c.330C>T (p.Thr110=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982130	NM_138701.4(MPLKIP):c.9A>G (p.Arg3=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978327	NM_138701.4(MPLKIP):c.372A>C (p.Ser124=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976257	NM_138701.4(MPLKIP):c.285G>A (p.Ala95=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963025	NM_138701.4(MPLKIP):c.234C>T (p.Phe78=)	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 2898287	NM_138701.4(MPLKIP):c.497A>G (p.Asn166Ser)	MPLKIP (N166S)	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 2871506	NM_138701.4(MPLKIP):c.382A>C (p.Arg128=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853984	NM_138701.4(MPLKIP):c.371C>A (p.Ser124Ter)	MPLKIP (S124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2816834	NM_138701.4(MPLKIP):c.340-7T>C	MPLKIP	Single nucleotide variant (intron 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 2812338	NM_138701.4(MPLKIP):c.401A>G (p.Asn134Ser)	MPLKIP (N134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806495	NM_138701.4(MPLKIP):c.59G>A (p.Gly20Asp)	MPLKIP (G20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805688	NM_138701.4(MPLKIP):c.159G>C (p.Pro53=)	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 2781623	NM_138701.4(MPLKIP):c.282C>G (p.Pro94=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718323	NM_138701.4(MPLKIP):c.138G>A (p.Gly46=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609496	NM_138701.4(MPLKIP):c.137G>A (p.Gly46Glu)	MPLKIP (G46E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491136	NM_138701.4(MPLKIP):c.100G>A (p.Gly34Ser)	MPLKIP (G34S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424743	NC_000007.13:g.(?_40085415)_(40174739_?)dup	CDK13, MPLKIP +1 more	Duplication	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 2416696	NM_138701.4(MPLKIP):c.74G>A (p.Ser25Asn)	MPLKIP (S25N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415978	NM_138701.4(MPLKIP):c.267C>T (p.Ser89=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2184849	NM_138701.4(MPLKIP):c.63G>C (p.Trp21Cys)	MPLKIP (W21C)	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 2176741	NM_138701.4(MPLKIP):c.530A>G (p.Tyr177Cys)	MPLKIP (Y177C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172273	NM_138701.4(MPLKIP):c.125G>T (p.Arg42Leu)	MPLKIP (R42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170748	NM_138701.4(MPLKIP):c.4C>G (p.Gln2Glu)	MPLKIP (Q2E)	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 2134603	NM_138701.4(MPLKIP):c.84G>C (p.Arg28=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2099442	NM_138701.4(MPLKIP):c.227G>A (p.Gly76Asp)	MPLKIP (G76D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097092	NM_138701.4(MPLKIP):c.502C>T (p.Gln168Ter)	MPLKIP (Q168*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 2089854	NM_138701.4(MPLKIP):c.486A>G (p.Gln162=)	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 2072494	NM_138701.4(MPLKIP):c.290C>A (p.Ser97Tyr)	MPLKIP (S97Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061612	NM_138701.4(MPLKIP):c.279C>T (p.Ser93=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050576	NM_138701.4(MPLKIP):c.98G>T (p.Gly33Val)	MPLKIP (G33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042702	NM_138701.4(MPLKIP):c.155C>A (p.Pro52Gln)	LOC129998295, MPLKIP (P52Q)	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 2024542	NM_138701.4(MPLKIP):c.122dup (p.Arg42fs)	MPLKIP (R42fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 1993156	NM_138701.4(MPLKIP):c.248C>T (p.Pro83Leu)	MPLKIP (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1967091	NM_138701.4(MPLKIP):c.231G>C (p.Arg77=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966147	NM_138701.4(MPLKIP):c.8G>A (p.Arg3Gln)	MPLKIP (R3Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1965452	NM_138701.4(MPLKIP):c.468T>A (p.Ser156=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965103	NM_138701.4(MPLKIP):c.95G>T (p.Gly32Val)	MPLKIP (G32V)	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 1962828	NM_138701.4(MPLKIP):c.53G>A (p.Gly18Glu)	MPLKIP (G18E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962827	NM_138701.4(MPLKIP):c.57A>G (p.Gly19=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1955005	NM_138701.4(MPLKIP):c.151A>T (p.Thr51Ser)	LOC129998295, MPLKIP (T51S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1951460	NM_138701.4(MPLKIP):c.340-7dup	MPLKIP	Duplication (intron variant)	not provided	GBenign
Select item 1940818	NM_138701.4(MPLKIP):c.136G>C (p.Gly46Arg)	MPLKIP (G46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1933751	NM_138701.4(MPLKIP):c.429A>G (p.Ser143=)	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 1928455	NM_138701.4(MPLKIP):c.339+14C>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1921869	NM_138701.4(MPLKIP):c.109C>T (p.Arg37Trp)	MPLKIP (R37W)	Single nucleotide variant (missense variant)	not provided	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 1908839	NM_138701.4(MPLKIP):c.270C>T (p.Tyr90=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	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 1659660	NM_138701.4(MPLKIP):c.340-15A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653405	NM_138701.4(MPLKIP):c.78C>T (p.Ser26=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649018	NM_138701.4(MPLKIP):c.452G>C (p.Gly151Ala)	MPLKIP (G151A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1646250	NM_138701.4(MPLKIP):c.465A>G (p.Val155=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1629997	NM_138701.4(MPLKIP):c.165G>A (p.Gly55=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614797	NM_138701.4(MPLKIP):c.165G>T (p.Gly55=)	LOC129998295, MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599448	NM_138701.4(MPLKIP):c.49G>C (p.Gly17Arg)	MPLKIP (G17R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1545680	NM_138701.4(MPLKIP):c.339+9A>G	MPLKIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535611	NM_138701.4(MPLKIP):c.105A>G (p.Gly35=)	MPLKIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527352	GRCh37/hg19 7p14.1(chr7:40116335-40240160)	CDK13, MPLKIP +1 more	Copy number loss	not specified	GPathogenic
Select item 1518989	NM_138701.4(MPLKIP):c.47C>T (p.Pro16Leu)	MPLKIP (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1513630	NM_138701.4(MPLKIP):c.447G>A (p.Trp149Ter)	MPLKIP (W149*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1504988	NM_138701.4(MPLKIP):c.2T>C (p.Met1Thr)	MPLKIP (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1502080	NM_138701.4(MPLKIP):c.146A>C (p.His49Pro)	MPLKIP (H49P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1496700	NM_138701.4(MPLKIP):c.215G>A (p.Ser72Asn)	LOC129998295, MPLKIP (S72N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1489409	NM_138701.4(MPLKIP):c.40C>G (p.Pro14Ala)	MPLKIP (P14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1467406	NM_138701.4(MPLKIP):c.451G>A (p.Gly151Ser)	MPLKIP (G151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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