ClinVar for Gene (Select 126861140) - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078709	NM_014633.5(CTR9):c.1154A>G (p.Tyr385Cys)	CTR9, LOC126861140 (Y385C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3019968	NM_014633.5(CTR9):c.1108G>A (p.Ala370Thr)	LOC126861140, CTR9 (A370T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989293	NM_014633.5(CTR9):c.1285G>A (p.Gly429Ser)	CTR9, LOC126861140 (G429S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2960938	NM_014633.5(CTR9):c.1227C>T (p.Pro409=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902402	NM_014633.5(CTR9):c.1413+15A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902321	NM_014633.5(CTR9):c.1285-12A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897766	NM_014633.5(CTR9):c.1530G>A (p.Met510Ile)	CTR9, LOC126861140 (M510I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888036	NM_014633.5(CTR9):c.1488C>T (p.Ser496=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862614	NM_014633.5(CTR9):c.1474T>C (p.Tyr492His)	CTR9, LOC126861140 (Y492H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857084	NM_014633.5(CTR9):c.1214C>T (p.Thr405Ile)	CTR9, LOC126861140 (T405I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826582	NM_014633.5(CTR9):c.1413+18T>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822658	NM_014633.5(CTR9):c.1194+18A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641602	NM_014633.5(CTR9):c.1500A>T (p.Ser500=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428199	NM_014633.5(CTR9):c.1285-13C>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2421393	NM_014633.5(CTR9):c.1454C>T (p.Ala485Val)	CTR9, LOC126861140 (A485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181811	NM_014633.5(CTR9):c.1280T>C (p.Ile427Thr)	CTR9, LOC126861140 (I427T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181503	NM_014633.5(CTR9):c.1448C>A (p.Ala483Glu)	CTR9, LOC126861140 (A483E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2176622	NM_014633.5(CTR9):c.1590T>C (p.Tyr530=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172597	NM_014633.5(CTR9):c.1532G>A (p.Cys511Tyr)	CTR9, LOC126861140 (C511Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169143	NM_014633.5(CTR9):c.1479C>T (p.Asn493=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148239	NM_014633.5(CTR9):c.1344T>C (p.Asp448=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122536	NM_014633.5(CTR9):c.1269A>G (p.Glu423=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110977	NM_014633.5(CTR9):c.1413+11A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065932	NM_014633.5(CTR9):c.1569C>T (p.Ile523=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2027701	NM_014633.5(CTR9):c.1597+4A>T	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1951256	NM_014633.5(CTR9):c.1597+20T>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941766	NM_014633.5(CTR9):c.1500A>G (p.Ser500=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1878756	NM_014633.5(CTR9):c.1194+1G>T	CTR9, LOC126861140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1810628	NM_014633.5(CTR9):c.1448C>G (p.Ala483Gly)	CTR9, LOC126861140 (A483G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806792	NM_014633.4(CTR9):c.1286del	CTR9, LOC126861140	Deletion	not provided	GUncertain significance
Select item 1654010	NM_014633.5(CTR9):c.1281A>C (p.Ile427=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602708	NM_014633.5(CTR9):c.1527G>A (p.Ala509=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1595923	NM_014633.5(CTR9):c.1155T>C (p.Tyr385=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594583	NM_014633.5(CTR9):c.1404G>A (p.Gly468=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1583870	NM_014633.5(CTR9):c.1311A>G (p.Ala437=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1570964	NM_014633.5(CTR9):c.1194+15del	CTR9, LOC126861140	Deletion (intron variant)	not provided	GLikely benign
Select item 1558283	NM_014633.5(CTR9):c.1284+20T>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1549151	NM_014633.5(CTR9):c.1368T>C (p.Asn456=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540770	NM_014633.5(CTR9):c.1125C>T (p.Tyr375=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528964	NM_014633.5(CTR9):c.1413+12G>T	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1523355	NM_014633.5(CTR9):c.1194+3A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1477357	NM_014633.5(CTR9):c.1194+1G>A	CTR9, LOC126861140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1453818	NM_014633.5(CTR9):c.1195-5C>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1452741	NM_014633.5(CTR9):c.1431A>T (p.Ser477=)	LOC126861140, CTR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1449356	NM_014633.5(CTR9):c.1394G>C (p.Gly465Ala)	CTR9, LOC126861140 (G465A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446337	NM_014633.5(CTR9):c.1181G>A (p.Arg394Gln)	CTR9, LOC126861140 (R394Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430352	NM_014633.5(CTR9):c.1413+4G>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1387382	NM_014633.5(CTR9):c.1414-3T>C	LOC126861140, CTR9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1381912	NM_014633.5(CTR9):c.1427C>T (p.Ala476Val)	CTR9, LOC126861140 (A476V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380793	NM_014633.5(CTR9):c.1255G>A (p.Ala419Thr)	CTR9, LOC126861140 (A419T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346005	NM_014633.5(CTR9):c.1132A>G (p.Met378Val)	CTR9, LOC126861140 (M378V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317506	NM_014633.5(CTR9):c.1194+56A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317208	NM_014633.5(CTR9):c.1597+212T>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274118	NM_014633.5(CTR9):c.1413+41_1413+45dup	CTR9, LOC126861140	Duplication (intron variant)	not provided	GBenign
Select item 1175567	NM_014633.5(CTR9):c.1597+207G>C	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1173024	NM_014633.5(CTR9):c.1364A>G (p.Asn455Ser)	CTR9, LOC126861140 (N455S)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GLikely pathogenic
Select item 1173021	NM_014633.5(CTR9):c.1405G>A (p.Glu469Lys)	CTR9, LOC126861140 (E469K)	Single nucleotide variant (missense variant)	CTR9-related neurodevelopmental disorder	GLikely pathogenic
Select item 1170439	NM_014633.5(CTR9):c.1455G>A (p.Ala485=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	CTR9-related condition +1 more	GBenign/Likely benign
Select item 1168010	NM_014633.5(CTR9):c.1557G>A (p.Leu519=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1168009	NM_014633.5(CTR9):c.1233T>C (p.Asp411=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1166401	NM_014633.5(CTR9):c.1461C>T (p.His487=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165251	NM_014633.5(CTR9):c.1494C>T (p.Thr498=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1141422	NM_014633.5(CTR9):c.1542T>C (p.His514=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121812	NM_014633.5(CTR9):c.1251A>G (p.Glu417=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1119786	NM_014633.5(CTR9):c.1575C>T (p.Arg525=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100348	NM_014633.5(CTR9):c.1143C>T (p.Leu381=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095124	NM_014633.5(CTR9):c.1428G>A (p.Ala476=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001643	NM_014633.5(CTR9):c.1493C>G (p.Thr498Ser)	CTR9, LOC126861140 (T498S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 971563	NM_014633.5(CTR9):c.1475A>G (p.Tyr492Cys)	CTR9, LOC126861140 (Y492C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 937009	NM_014633.5(CTR9):c.1180C>T (p.Arg394Ter)	CTR9, LOC126861140 (R394*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 936342	NM_014633.5(CTR9):c.1518A>G (p.Leu506=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 793003	NM_014633.5(CTR9):c.1497G>A (p.Thr499=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224155	NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)	CTR9, LOC126861140 (E376K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic

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Items: 75