ClinVar for MedGen (Select 412873) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 112

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254896	NM_001029.5(RPS26):c.119T>A (p.Val40Asp)	RPS26 (V40D)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 3254826	NM_001029.5(RPS26):c.312+5_312+21del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2985700	NM_001029.5(RPS26):c.4-8_4-7delinsCT	RPS26	Indel (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2914977	NM_001029.5(RPS26):c.213A>G (p.Leu71=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2911111	NM_001029.5(RPS26):c.313-10dup	RPS26	Duplication (intron variant)	RPS26-related disorder +1 more	GLikely benign
Select item 2893785	NM_001029.5(RPS26):c.182-16_182-15del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2881438	NM_001029.5(RPS26):c.182-9A>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2861071	NM_001029.5(RPS26):c.120C>G (p.Val40=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2859857	NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)	RPS26 (C26Y)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2826114	NM_001029.5(RPS26):c.129C>T (p.Asn43=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2792334	NM_001029.5(RPS26):c.313-7C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2780032	NM_001029.5(RPS26):c.65G>A (p.Arg22His)	RPS26 (R22H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2753921	NM_001029.5(RPS26):c.120C>A (p.Val40=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2732579	NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)	RPS26 (K32T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2731047	NM_001029.5(RPS26):c.4-10C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2729323	NM_001029.5(RPS26):c.312+7A>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2724048	NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)	RPS26 (K3N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2697519	NM_001029.5(RPS26):c.4-1_6del	RPS26	Deletion (splice acceptor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 2690689	NM_001029.5(RPS26):c.2T>A (p.Met1Lys)	RPS26 (M1K)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 2689886	NM_001029.5(RPS26):c.3+5G>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2500942	NM_001029.5(RPS26):c.182-16_182-4del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2435482	NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)	RPS26 (T24A)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2435481	NM_001029.5(RPS26):c.344T>C (p.Met115Thr)	RPS26 (M115T)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10 +1 more	GConflicting classifications of pathogenicity
Select item 2433019	NM_001029.5(RPS26):c.181+1G>A	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 2423490	NC_000012.11:g.(?_56396006)_(56437938_?)del	IKZF4, RPS26 +1 more	Deletion	Diamond-Blackfan anemia 10	GPathogenic
Select item 2190048	NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)	RPS26 (R92C)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2165444	NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)	RPS26 (P111L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2165414	NM_001029.5(RPS26):c.93C>G (p.Pro31=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2156132	NM_001029.5(RPS26):c.144A>T (p.Ala48=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2122747	NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)	RPS26 (A106G)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2078828	NM_001029.5(RPS26):c.183C>G (p.Ala61=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2045147	NM_001029.5(RPS26):c.182-20C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2043428	NM_001029.5(RPS26):c.3+12T>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2042654	NM_001029.5(RPS26):c.3+4A>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 2039332	NM_001029.5(RPS26):c.3+14C>A	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2027475	NM_001029.5(RPS26):c.78_79del (p.Ala27fs)	RPS26 (A27fs)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia 10	GPathogenic
Select item 1972234	NM_001029.5(RPS26):c.181+8G>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1937880	NM_001029.5(RPS26):c.3+10C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1924553	NM_001029.5(RPS26):c.312+3G>A	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1924550	NM_001029.5(RPS26):c.288A>G (p.Thr96=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1919911	NM_001029.5(RPS26):c.336A>G (p.Pro112=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1901130	NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)	RPS26 (P110S)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1798687	NM_001029.5(RPS26):c.3+1G>T	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10 +1 more	GPathogenic/Likely pathogenic
Select item 1715019	NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)	RPS26 (S57N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1664629	NM_001029.5(RPS26):c.4-4G>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1659857	NM_001029.5(RPS26):c.181+19C>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1652790	NM_001029.5(RPS26):c.3+20G>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1602942	NM_001029.5(RPS26):c.4-13C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1595578	NM_001029.5(RPS26):c.327T>C (p.Arg109=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1589398	NM_001029.5(RPS26):c.4-7G>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1585923	NM_001029.5(RPS26):c.333A>T (p.Pro111=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1584981	NM_001029.5(RPS26):c.3+13G>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1577732	NM_001029.5(RPS26):c.315T>A (p.Gly105=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1551609	NM_001029.5(RPS26):c.207G>C (p.Val69=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1549115	NM_001029.5(RPS26):c.3+14C>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1545173	NM_001029.5(RPS26):c.313-17_313-14del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1543039	NM_001029.5(RPS26):c.60T>A (p.Pro20=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1541909	NM_001029.5(RPS26):c.181+10T>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1534125	NM_001029.5(RPS26):c.201G>A (p.Leu67=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1444064	NM_001029.5(RPS26):c.181+6T>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1423910	NM_001029.5(RPS26):c.3+6T>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1410010	NC_000012.11:g.(?_56435951)_(56437938_?)dup	RPS26	Duplication	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1387694	NM_001029.5(RPS26):c.64C>G (p.Arg22Gly)	RPS26 (R22G)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1374528	NM_001029.5(RPS26):c.96G>A (p.Lys32=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1356399	NM_001029.5(RPS26):c.73_76del (p.Asn25fs)	RPS26 (N25fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 10 +1 more	GPathogenic/Likely pathogenic
Select item 1337471	NM_001029.5(RPS26):c.42C>T (p.Gly14=)	RPS26	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1327064	NM_001029.5(RPS26):c.61A>C (p.Ile21Leu)	RPS26 (I21L)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1325016	NM_001029.5(RPS26):c.3+2T>G	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 1161904	NM_001029.5(RPS26):c.270A>G (p.Glu90=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1157119	NM_001029.5(RPS26):c.3+7C>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1137271	NM_001029.5(RPS26):c.144A>G (p.Ala48=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1127803	NM_001029.5(RPS26):c.81C>T (p.Ala27=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1093182	NM_001029.5(RPS26):c.69C>T (p.Cys23=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1076796	NM_001029.5(RPS26):c.9_12del (p.Lys4fs)	RPS26 (K4fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic
Select item 1034425	NM_001029.5(RPS26):c.157A>G (p.Ile53Val)	RPS26 (I53V)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 1020612	NM_001029.5(RPS26):c.266G>A (p.Arg89His)	RPS26 (R89H)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 946046	NM_001029.5(RPS26):c.181+6_181+7del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 934123	NM_001029.5(RPS26):c.196A>T (p.Lys66Ter)	RPS26 (K66*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 10	GPathogenic
Select item 933891	NM_001029.5(RPS26):c.2T>G (p.Met1Arg)	RPS26 (M1R)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 10	GPathogenic
Select item 929406	NM_001029.5(RPS26):c.181+1del	RPS26	Deletion (splice donor variant)	Diamond-Blackfan anemia 10	GPathogenic
Select item 883853	NM_001029.5(RPS26):c.291C>T (p.Pro97=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 883852	NM_001029.5(RPS26):c.3+14C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 883851	NM_001029.5(RPS26):c.3+9T>A	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10 +1 more	GLikely benign
Select item 883850	NM_001029.5(RPS26):c.3+7C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 883849	NM_001029.5(RPS26):c.-9G>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 883078	NM_001029.5(RPS26):c.-25C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GBenign
Select item 883077	NM_001029.5(RPS26):c.-31C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 881904	NM_001029.5(RPS26):c.-130T>G	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 703119	NM_001029.5(RPS26):c.63T>A (p.Ile21=)	RPS26	Single nucleotide variant (synonymous variant)	RPS26-related disorder +1 more	GLikely benign
Select item 693985	NM_001029.5(RPS26):c.266G>C (p.Arg89Pro)	RPS26 (R89P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 651454	NM_001029.5(RPS26):c.312G>A (p.Ala104=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 470476	NM_001029.5(RPS26):c.224_225del (p.Val75fs)	RPS26 (V75fs)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia 10	GPathogenic/Likely pathogenic
Select item 309860	NM_001029.5(RPS26):c.327T>A (p.Arg109=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GBenign
Select item 309859	NM_001029.5(RPS26):c.93C>T (p.Pro31=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +2 more	GConflicting classifications of pathogenicity
Select item 309858	NM_001029.5(RPS26):c.-3A>G	RPS26	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 309857	NM_001029.5(RPS26):c.-22C>G	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10 +1 more	GBenign
Select item 309856	NM_001029.5(RPS26):c.-27C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 309855	NM_001029.5(RPS26):c.-31C>G	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10 +1 more	GBenign
Select item 309854	NM_001029.5(RPS26):c.-33C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 309853	NM_001029.5(RPS26):c.-35G>A	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10 +1 more	GBenign/Likely benign

<< First< Prev

Page of 2