6231[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	AMHR2, ATF7 +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 88979	NC_000012.10:g.54711095_54731551del	IKZF4, LOC116268441 +1 more	Deletion	Diamond-Blackfan anemia 10	GPathogenic
Select item 1259753	NC_000012.12:g.56041628G>A	RPS26	Single nucleotide variant	not provided	GBenign
Select item 309850	NM_001029.5(RPS26):c.-209T>G	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GBenign
Select item 309851	NM_001029.5(RPS26):c.-149G>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 633659	NM_001029.5(RPS26):c.-101C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 309852	NM_001029.5(RPS26):c.-80C>T	RPS26	Single nucleotide variant (5 prime UTR variant)	Diamond-Blackfan anemia 10	GUncertain significance
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
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 883077	NM_001029.5(RPS26):c.-31C>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 309856	NM_001029.5(RPS26):c.-27C>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 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 3032213	NM_001029.5(RPS26):c.-9G>A	RPS26	Single nucleotide variant (5 prime UTR variant)	RPS26-related condition	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 309858	NM_001029.5(RPS26):c.-3A>G	RPS26	Single nucleotide variant (5 prime UTR variant)	RPS26-related condition +3 more	GBenign/Likely benign
Select item 1337787	NM_001029.5(RPS26):c.-1G>C	RPS26	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 598993	NM_001029.5(RPS26):c.1A>C (p.Met1Leu)	RPS26 (M1L)	Single nucleotide variant (missense variant +1 more)	Bone marrow hypocellularity +1 more	GPathogenic
Select item 6123	NM_001029.5(RPS26):c.1A>T (p.Met1Leu)	RPS26 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 6122	NM_001029.5(RPS26):c.1A>G (p.Met1Val)	RPS26 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
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 1798678	NM_001029.5(RPS26):c.2T>C (p.Met1Thr)	RPS26 (M1T)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia	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 1798687	NM_001029.5(RPS26):c.3+1G>T	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 6126	NM_001029.5(RPS26):c.3+1G>A	RPS26	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia 10	GPathogenic
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 2042654	NM_001029.5(RPS26):c.3+4A>C	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 1423910	NM_001029.5(RPS26):c.3+6T>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 883850	NM_001029.5(RPS26):c.3+7C>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	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 2043428	NM_001029.5(RPS26):c.3+12T>C	RPS26	Single nucleotide variant (intron 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 2039332	NM_001029.5(RPS26):c.3+14C>A	RPS26	Single nucleotide variant (intron 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 883852	NM_001029.5(RPS26):c.3+14C>T	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 1293158	NM_001029.5(RPS26):c.4-98C>G	RPS26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3032867	NM_001029.5(RPS26):c.4-34C>T	RPS26	Single nucleotide variant (intron variant)	RPS26-related condition	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 2731047	NM_001029.5(RPS26):c.4-10C>T	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 2985700	NM_001029.5(RPS26):c.4-8_4-7delinsCT	RPS26	Indel (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 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 2697519	NM_001029.5(RPS26):c.4-1_6del	RPS26	Deletion (splice acceptor variant)	Diamond-Blackfan anemia 10	GLikely pathogenic
Select item 187850	NM_001029.5(RPS26):c.4-2A>T	RPS26	Single nucleotide variant (splice acceptor variant)	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	GPathogenic
Select item 1076796	NM_001029.5(RPS26):c.9_12del (p.Lys4fs)	RPS26 (K4fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia 10 +1 more	GPathogenic
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 702675	NM_001029.5(RPS26):c.18G>A (p.Arg6=)	RPS26	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6125	NM_001029.5(RPS26):c.31dup (p.Ala11fs)	RPS26 (A11fs)	Duplication (frameshift variant)	Diamond-Blackfan anemia 10	GPathogenic
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 212066	NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)	RPS26 (Q19*)	Single nucleotide variant (nonsense)	Diamond-Blackfan anemia 10	GPathogenic
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 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 703119	NM_001029.5(RPS26):c.63T>A (p.Ile21=)	RPS26	Single nucleotide variant (synonymous variant)	RPS26-related condition +1 more	GLikely benign
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 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 1755523	NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)	RPS26 (C23R)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia	GUncertain significance
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 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 1356399	NM_001029.5(RPS26):c.73_76del (p.Asn25fs)	RPS26 (N25fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia +1 more	GPathogenic/Likely pathogenic
Select item 2027475	NM_001029.5(RPS26):c.78_79del (p.Ala27fs)	RPS26 (A27fs)	Microsatellite (frameshift variant)	Diamond-Blackfan anemia 10	GPathogenic
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 2633840	NM_001029.5(RPS26):c.79G>T (p.Ala27Ser)	RPS26 (A27S)	Single nucleotide variant (missense variant)	RPS26-related condition	GUncertain significance
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 1765045	NM_001029.5(RPS26):c.88del (p.Val30fs)	RPS26 (V30fs)	Deletion (frameshift variant)	Diamond-Blackfan anemia	GPathogenic
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 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 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 1374528	NM_001029.5(RPS26):c.96G>A (p.Lys32=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GUncertain significance
Select item 6124	NM_001029.5(RPS26):c.97G>A (p.Asp33Asn)	RPS26 (D33N)	Single nucleotide variant (missense variant)	Diamond-Blackfan anemia 10	GPathogenic
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 2753921	NM_001029.5(RPS26):c.120C>A (p.Val40=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign
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 2156132	NM_001029.5(RPS26):c.144A>T (p.Ala48=)	RPS26	Single nucleotide variant (synonymous 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 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 3051913	NM_001029.5(RPS26):c.168G>T (p.Ala56=)	RPS26	Single nucleotide variant (synonymous variant)	RPS26-related condition	GLikely benign
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 929406	NM_001029.5(RPS26):c.181+1del	RPS26	Deletion (splice donor variant)	Diamond-Blackfan anemia 10	GPathogenic
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 946046	NM_001029.5(RPS26):c.181+6_181+7del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 1972234	NM_001029.5(RPS26):c.181+8G>C	RPS26	Single nucleotide variant (intron 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 1659857	NM_001029.5(RPS26):c.181+19C>G	RPS26	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 10	GLikely benign
Select item 1267146	NM_001029.5(RPS26):c.181+86T>G	RPS26	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201168	NM_001029.5(RPS26):c.182-230G>A	RPS26	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327179	NM_001029.5(RPS26):c.182-29C>G	RPS26	Single nucleotide variant (intron variant)	not provided	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 2500942	NM_001029.5(RPS26):c.182-16_182-4del	RPS26	Deletion (intron variant)	Diamond-Blackfan anemia 10	GUncertain significance
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 2078828	NM_001029.5(RPS26):c.183C>G (p.Ala61=)	RPS26	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 10	GLikely benign

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