ClinVar for Gene (Select 10128) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241836	NM_133259.4(LRPPRC):c.3446T>A (p.Leu1149Ter)	LRPPRC (L1149*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241835	NM_133259.4(LRPPRC):c.3825+1G>A	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241834	NM_133259.4(LRPPRC):c.3778C>T (p.Gln1260Ter)	LRPPRC (Q1260*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241833	NM_133259.4(LRPPRC):c.14_47delinsCTCAG (p.Leu5fs)	LRPPRC (L5fs)	Indel (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241832	NM_133259.4(LRPPRC):c.683_684del (p.Leu228fs)	LRPPRC (L228fs)	Microsatellite (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241831	NM_133259.4(LRPPRC):c.356_362del (p.Gly119fs)	LRPPRC (G119fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241830	NM_133259.4(LRPPRC):c.3985+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241829	NM_133259.4(LRPPRC):c.4023T>G (p.Tyr1341Ter)	LRPPRC (Y1341*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241828	NM_133259.4(LRPPRC):c.3706A>T (p.Lys1236Ter)	LRPPRC (K1236*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3241827	NM_133259.4(LRPPRC):c.1758T>G (p.Tyr586Ter)	LRPPRC (Y586*)	Single nucleotide variant (nonsense)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3233825	NM_133259.4(LRPPRC):c.3275+1G>T	LRPPRC	Single nucleotide variant (splice donor variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3120368	NM_133259.4(LRPPRC):c.692C>G (p.Thr231Arg)	LRPPRC (T231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120367	NM_133259.4(LRPPRC):c.397C>G (p.Leu133Val)	LRPPRC (L133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120366	NM_133259.4(LRPPRC):c.3787G>A (p.Asp1263Asn)	LRPPRC (D1263N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120365	NM_133259.4(LRPPRC):c.3456G>C (p.Lys1152Asn)	LRPPRC (K1152N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120364	NM_133259.4(LRPPRC):c.3373A>G (p.Thr1125Ala)	LRPPRC (T1125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120363	NM_133259.4(LRPPRC):c.3259A>G (p.Met1087Val)	LRPPRC (M1087V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3120362	NM_133259.4(LRPPRC):c.2188G>T (p.Ala730Ser)	LRPPRC (A730S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3120361	NM_133259.4(LRPPRC):c.2014A>G (p.Lys672Glu)	LRPPRC (K672E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120360	NM_133259.4(LRPPRC):c.1928A>C (p.His643Pro)	LRPPRC (H643P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120359	NM_133259.4(LRPPRC):c.1804G>C (p.Glu602Gln)	LRPPRC (E602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120358	NM_133259.4(LRPPRC):c.1712G>A (p.Cys571Tyr)	LRPPRC (C571Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120356	NM_133259.4(LRPPRC):c.1289T>C (p.Val430Ala)	LRPPRC (V430A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3120355	NM_133259.4(LRPPRC):c.1252A>G (p.Asn418Asp)	LRPPRC (N418D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065750	NM_133259.4(LRPPRC):c.2106del (p.Ala703fs)	LRPPRC (A703fs)	Deletion (frameshift variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 3052563	NM_133259.4(LRPPRC):c.3249T>C (p.Phe1083=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder	GLikely benign
Select item 3047745	NM_133259.4(LRPPRC):c.717G>C (p.Val239=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder	GLikely benign
Select item 3024016	NM_133259.4(LRPPRC):c.294C>A (p.Gly98=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023640	NM_133259.4(LRPPRC):c.2211-17G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023572	NM_133259.4(LRPPRC):c.4129-19_4129-17del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 3022555	NM_133259.4(LRPPRC):c.591+11dup	LRPPRC	Duplication (intron variant)	not provided	GLikely benign
Select item 3022080	NM_133259.4(LRPPRC):c.1458T>C (p.Asp486=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021623	NM_133259.4(LRPPRC):c.2504+14A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019962	NM_133259.4(LRPPRC):c.1965+14del	LRPPRC	Deletion (intron variant)	not provided	GBenign
Select item 3019664	NM_133259.4(LRPPRC):c.3569+11G>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019581	NM_133259.4(LRPPRC):c.346+14T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019215	NM_133259.4(LRPPRC):c.2080-19C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018640	NM_133259.4(LRPPRC):c.3901-18C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018533	NM_133259.4(LRPPRC):c.1762T>C (p.Leu588=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018317	NM_133259.4(LRPPRC):c.1843-18del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 3018286	NM_133259.4(LRPPRC):c.63G>C (p.Pro21=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017545	NM_133259.4(LRPPRC):c.3986-11C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017523	NM_133259.4(LRPPRC):c.48G>A (p.Ala16=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017520	NM_133259.4(LRPPRC):c.3148+14G>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016697	NM_133259.4(LRPPRC):c.2079+9T>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016576	NM_133259.4(LRPPRC):c.347-13C>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015854	NM_133259.4(LRPPRC):c.2080-16C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015587	NM_133259.4(LRPPRC):c.2736+20_2736+30del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 3014632	NM_133259.4(LRPPRC):c.2079+16A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013721	NM_133259.4(LRPPRC):c.865-15T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013323	NM_133259.4(LRPPRC):c.1677+17T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013269	NM_133259.4(LRPPRC):c.469+11T>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012120	NM_133259.4(LRPPRC):c.865-6C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011167	NM_133259.4(LRPPRC):c.737+11A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010744	NM_133259.4(LRPPRC):c.2806-20C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010669	NM_133259.4(LRPPRC):c.984T>G (p.Val328=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009614	NM_133259.4(LRPPRC):c.2064G>C (p.Val688=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008386	NM_133259.4(LRPPRC):c.2244C>G (p.Thr748=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007514	NM_133259.4(LRPPRC):c.1890G>A (p.Leu630=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007485	NM_133259.4(LRPPRC):c.3987C>A (p.Val1329=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005735	NM_133259.4(LRPPRC):c.149+17T>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004495	NM_133259.4(LRPPRC):c.3090C>G (p.Thr1030=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002677	NM_133259.4(LRPPRC):c.3681G>A (p.Glu1227=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000924	NM_133259.4(LRPPRC):c.651-15G>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999879	NM_133259.4(LRPPRC):c.984T>C (p.Val328=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999487	NM_133259.4(LRPPRC):c.2760T>G (p.Ser920=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999365	NM_133259.4(LRPPRC):c.737+11A>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998427	NM_133259.4(LRPPRC):c.1179C>T (p.Tyr393=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997738	NM_133259.4(LRPPRC):c.1261+11C>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997097	NM_133259.4(LRPPRC):c.1842+17del	LRPPRC	Deletion (intron variant)	not provided	GBenign
Select item 2996865	NM_133259.4(LRPPRC):c.469+18T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995985	NM_133259.4(LRPPRC):c.57C>T (p.Arg19=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995704	NM_133259.4(LRPPRC):c.738-14G>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995536	NM_133259.4(LRPPRC):c.2205A>G (p.Glu735=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995447	NM_133259.4(LRPPRC):c.865-5T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994960	NM_133259.4(LRPPRC):c.2079+15A>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994731	NM_133259.4(LRPPRC):c.650+7A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994443	NM_133259.4(LRPPRC):c.3372G>C (p.Val1124=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992742	NM_133259.4(LRPPRC):c.1009+15del	LRPPRC	Deletion (intron variant)	not provided	GBenign
Select item 2992485	NM_133259.4(LRPPRC):c.3570-17T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992432	NM_133259.4(LRPPRC):c.3710-11C>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992421	NM_133259.4(LRPPRC):c.2296+19del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 2991895	NM_133259.4(LRPPRC):c.2297-11C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991775	NM_133259.4(LRPPRC):c.864+20A>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991491	NM_133259.4(LRPPRC):c.1649+13A>G	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990582	NM_133259.4(LRPPRC):c.1596A>G (p.Thr532=)	LOC129388857, LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989385	NM_133259.4(LRPPRC):c.469+19A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989160	NM_133259.4(LRPPRC):c.2210+8C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989140	NM_133259.4(LRPPRC):c.867T>C (p.Thr289=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988814	NM_133259.4(LRPPRC):c.1233C>T (p.Leu411=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988618	NM_133259.4(LRPPRC):c.346+15C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988025	NM_133259.4(LRPPRC):c.1262-7C>T	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987749	NM_133259.4(LRPPRC):c.2682C>G (p.Leu894=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983049	NM_133259.4(LRPPRC):c.1842+9T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982809	NM_133259.4(LRPPRC):c.738-14G>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982156	NM_133259.4(LRPPRC):c.18A>G (p.Arg6=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978668	NM_133259.4(LRPPRC):c.3569+16C>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978016	NM_133259.4(LRPPRC):c.3275+12T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977639	NM_133259.4(LRPPRC):c.2505-18A>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977026	NM_133259.4(LRPPRC):c.3149-17T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign

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