"LRPPRC-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1085487	NM_133259.4(LRPPRC):c.4129-9C>T	LRPPRC	Single nucleotide variant (intron variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 985865	NM_133259.4(LRPPRC):c.4078G>T (p.Ala1360Ser)	LRPPRC (A1360S)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GUncertain significance
Select item 746339	NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr)	LRPPRC (A1360T)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GBenign/Likely benign
Select item 755923	NM_133259.4(LRPPRC):c.4074T>C (p.Arg1358=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 550076	NM_133259.4(LRPPRC):c.3986-11_3986-8dup	LRPPRC	Duplication (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 898441	NM_133259.4(LRPPRC):c.3648C>T (p.Phe1216=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 2631047	NM_133259.4(LRPPRC):c.3605A>T (p.Asn1202Ile)	LRPPRC (N1202I)	Single nucleotide variant (missense variant)	LRPPRC-related disorder	GUncertain significance
Select item 741473	NM_133259.4(LRPPRC):c.3411T>C (p.Pro1137=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
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 379195	NM_133259.4(LRPPRC):c.3030C>T (p.Asp1010=)	LRPPRC	Single nucleotide variant (synonymous variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 426849	NM_133259.4(LRPPRC):c.2981G>C (p.Arg994Thr)	LRPPRC (R994T)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GUncertain significance
Select item 1665257	NM_133259.4(LRPPRC):c.2583C>T (p.Val861=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 668497	NM_133259.4(LRPPRC):c.2487C>T (p.Val829=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 509982	NM_133259.4(LRPPRC):c.2271A>G (p.Val757=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1988292	NM_133259.4(LRPPRC):c.2211-10T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1199097	NM_133259.4(LRPPRC):c.2141A>G (p.Tyr714Cys)	LRPPRC (Y714C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 728065	NM_133259.4(LRPPRC):c.1929C>T (p.His643=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2634497	NM_133259.4(LRPPRC):c.1840A>G (p.Met614Val)	LRPPRC (M614V)	Single nucleotide variant (missense variant)	LRPPRC-related disorder	GUncertain significance
Select item 2071910	NM_133259.4(LRPPRC):c.1736-7T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2433528	NM_133259.4(LRPPRC):c.1649+3A>G	LOC129388857, LRPPRC	Single nucleotide variant (intron variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 2884618	NM_133259.4(LRPPRC):c.1582+9A>G	LRPPRC	Single nucleotide variant (intron variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 2630347	NM_133259.4(LRPPRC):c.1517T>C (p.Met506Thr)	LRPPRC (M506T)	Single nucleotide variant (missense variant)	LRPPRC-related disorder	GUncertain significance
Select item 214606	NM_133259.4(LRPPRC):c.1426A>G (p.Thr476Ala)	LRPPRC (T476A)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 214586	NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp)	LRPPRC (G434D)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 681584	NM_133259.4(LRPPRC):c.1236T>C (p.His412=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 1126645	NM_133259.4(LRPPRC):c.1137C>T (p.His379=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 1085760	NM_133259.4(LRPPRC):c.1062G>A (p.Ala354=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 3110	NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)	LRPPRC (A354V)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +2 more	GPathogenic
Select item 1138025	NM_133259.4(LRPPRC):c.738-9A>T	LRPPRC	Single nucleotide variant (intron variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 516157	NM_133259.4(LRPPRC):c.723G>A (p.Gly241=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +2 more	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 1603555	NM_133259.4(LRPPRC):c.651-10T>A	LRPPRC	Single nucleotide variant (intron variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 1079954	NM_133259.4(LRPPRC):c.540A>C (p.Ser180=)	LRPPRC	Single nucleotide variant (synonymous variant)	LRPPRC-related disorder +1 more	GLikely benign
Select item 214591	NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe)	LRPPRC (L27F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 336177	NM_133259.4(LRPPRC):c.74G>A (p.Arg25His)	LRPPRC (R25H)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +2 more	GConflicting classifications of pathogenicity
Select item 388155	NM_133259.4(LRPPRC):c.66C>T (p.Leu22=)	LRPPRC	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 138150	NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val)	LRPPRC (L22V)	Single nucleotide variant (missense variant)	LRPPRC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 214614	NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)	LRPPRC (A3T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 38