LRPPRC[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 336097	NM_133259.4(LRPPRC):c.*2376C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896666	NM_133259.4(LRPPRC):c.*2289A>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336098	NM_133259.4(LRPPRC):c.*2277A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336099	NM_133259.4(LRPPRC):c.*2245A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896667	NM_133259.4(LRPPRC):c.*2230A>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896668	NM_133259.4(LRPPRC):c.*2224A>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896669	NM_133259.4(LRPPRC):c.*2192A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336100	NM_133259.4(LRPPRC):c.*2176A>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 897129	NM_133259.4(LRPPRC):c.*2157T>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336101	NM_133259.4(LRPPRC):c.*2099C>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336102	NM_133259.4(LRPPRC):c.*2048dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 897130	NM_133259.4(LRPPRC):c.*2042G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336104	NM_133259.4(LRPPRC):c.*2041C>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336103	NM_133259.4(LRPPRC):c.*2041C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336105	NM_133259.4(LRPPRC):c.*1981A>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336106	NM_133259.4(LRPPRC):c.*1961T>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely benign
Select item 336107	NM_133259.4(LRPPRC):c.*1911G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 898291	NM_133259.4(LRPPRC):c.*1895G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336108	NM_133259.4(LRPPRC):c.*1895G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 898292	NM_133259.4(LRPPRC):c.*1894C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336109	NM_133259.4(LRPPRC):c.*1872C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336110	NM_133259.4(LRPPRC):c.*1816T>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336111	NM_133259.4(LRPPRC):c.*1806A>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 898293	NM_133259.4(LRPPRC):c.*1752C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895300	NM_133259.4(LRPPRC):c.*1719G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895301	NM_133259.4(LRPPRC):c.*1717C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895302	NM_133259.4(LRPPRC):c.*1689G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895303	NM_133259.4(LRPPRC):c.*1685G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895304	NM_133259.4(LRPPRC):c.*1684C>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336113	NM_133259.4(LRPPRC):c.*1665C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336112	NM_133259.4(LRPPRC):c.*1665C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336115	NM_133259.4(LRPPRC):c.*1653G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336114	NM_133259.4(LRPPRC):c.*1653G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896724	NM_133259.4(LRPPRC):c.*1652C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336116	NM_133259.4(LRPPRC):c.*1587C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336117	NM_133259.4(LRPPRC):c.*1584G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336118	NM_133259.4(LRPPRC):c.*1564G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely benign
Select item 336119	NM_133259.4(LRPPRC):c.*1563C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336120	NM_133259.4(LRPPRC):c.*1498G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 897193	NM_133259.4(LRPPRC):c.*1458A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2650863	NM_133259.4(LRPPRC):c.1456_1457insTTTTTTTTTTTTTTTTTTTTTTTT	LRPPRC	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 2650862	NM_133259.4(LRPPRC):c.1438_1456dup	LRPPRC	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2650861	NM_133259.4(LRPPRC):c.1440_1456dup	LRPPRC	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 336122	NM_133259.4(LRPPRC):c.1445_1456dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336121	NM_133259.4(LRPPRC):c.1449_1456dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 897194	NM_133259.4(LRPPRC):c.*1435C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336123	NM_133259.4(LRPPRC):c.*1435del	LRPPRC	Deletion (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 336124	NM_133259.4(LRPPRC):c.1387_1390dup	LRPPRC	Duplication (3 prime UTR variant)	Leigh syndrome	GUncertain significance
Select item 897195	NM_133259.4(LRPPRC):c.*1372G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336125	NM_133259.4(LRPPRC):c.*1371C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 897196	NM_133259.4(LRPPRC):c.*1370G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 897197	NM_133259.4(LRPPRC):c.*1355C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336126	NM_133259.4(LRPPRC):c.*1343G>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336127	NM_133259.4(LRPPRC):c.*1335T>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336128	NM_133259.4(LRPPRC):c.*1152C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336129	NM_133259.4(LRPPRC):c.*1121G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336130	NM_133259.4(LRPPRC):c.*1088G>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 898367	NM_133259.4(LRPPRC):c.*996A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336131	NM_133259.4(LRPPRC):c.*825A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 898368	NM_133259.4(LRPPRC):c.*735C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 898369	NM_133259.4(LRPPRC):c.*734A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336132	NM_133259.4(LRPPRC):c.*667C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336133	NM_133259.4(LRPPRC):c.*647G>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336134	NM_133259.4(LRPPRC):c.*590C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895385	NM_133259.4(LRPPRC):c.*587C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336135	NM_133259.4(LRPPRC):c.*577G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336136	NM_133259.4(LRPPRC):c.*556A>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GBenign
Select item 336137	NM_133259.4(LRPPRC):c.*534G>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 895386	NM_133259.4(LRPPRC):c.*518A>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336138	NM_133259.4(LRPPRC):c.*485C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336139	NM_133259.4(LRPPRC):c.*456G>C	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896784	NM_133259.4(LRPPRC):c.*420C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336140	NM_133259.4(LRPPRC):c.*409C>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 336141	NM_133259.4(LRPPRC):c.*399G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type +1 more	GConflicting classifications of pathogenicity
Select item 336142	NM_133259.4(LRPPRC):c.*343C>T	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896785	NM_133259.4(LRPPRC):c.*218A>G	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 896786	NM_133259.4(LRPPRC):c.*110G>A	LRPPRC	Single nucleotide variant (3 prime UTR variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 550769	NM_133259.4(LRPPRC):c.4178_4182dup (p.Ter1395LeuextTer?)	LRPPRC	Duplication (frameshift variant +1 more)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 1209202	NM_133259.4(LRPPRC):c.4180T>G (p.Ser1394Ala)	LRPPRC (S1394A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 336143	NM_133259.4(LRPPRC):c.4177T>G (p.Ser1393Ala)	LRPPRC (S1393A)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 1113547	NM_133259.4(LRPPRC):c.4165T>C (p.Leu1389=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1133585	NM_133259.4(LRPPRC):c.4156C>T (p.Leu1386=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 336144	NM_133259.4(LRPPRC):c.4156C>G (p.Leu1386Val)	LRPPRC (L1386V)	Single nucleotide variant (missense variant)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GUncertain significance
Select item 2131196	NM_133259.4(LRPPRC):c.4146T>C (p.Tyr1382=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660495	NM_133259.4(LRPPRC):c.4140A>G (p.Glu1380=)	LRPPRC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283490	NM_133259.4(LRPPRC):c.4133G>A (p.Ser1378Asn)	LRPPRC (S1378N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 214599	NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly)	LRPPRC (S1378G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2005569	NM_133259.4(LRPPRC):c.4129-6T>C	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1129660	NM_133259.4(LRPPRC):c.4129-8_4129-6del	LRPPRC	Deletion (intron variant)	not provided	GLikely benign
Select item 1917935	NM_133259.4(LRPPRC):c.4129-7T>G	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602791	NM_133259.4(LRPPRC):c.4129-7T>A	LRPPRC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515102	NM_133259.4(LRPPRC):c.4129-8C>T	LRPPRC	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1085487	NM_133259.4(LRPPRC):c.4129-9C>T	LRPPRC	Single nucleotide variant (intron variant)	LRPPRC-related condition +1 more	GLikely benign
Select item 2894535	NM_133259.4(LRPPRC):c.4129-11dup	LRPPRC	Duplication (intron variant)	not provided	GLikely benign

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