CNTRL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145371	GRCh38/hg38 9q33.2(chr9:120938029-121183321)x1	C5, C5-OT1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 2490132	NM_007018.6(CNTRL):c.32C>A (p.Ser11Tyr)	CNTRL (S11Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719912	NM_007018.6(CNTRL):c.38C>A (p.Ala13Glu)	CNTRL (A13E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3146962	NM_007018.6(CNTRL):c.79A>G (p.Met27Val)	CNTRL (M27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519565	NM_007018.6(CNTRL):c.182A>G (p.Glu61Gly)	CNTRL (E61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592694	NM_007018.6(CNTRL):c.212A>G (p.His71Arg)	CNTRL (H71R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146934	NM_007018.6(CNTRL):c.293C>T (p.Ala98Val)	CNTRL (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719184	NM_007018.6(CNTRL):c.330C>T (p.Asp110=)	CNTRL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2592676	NM_007018.6(CNTRL):c.331G>A (p.Gly111Ser)	CNTRL (G111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245311	NM_007018.6(CNTRL):c.449G>A (p.Arg150His)	CNTRL (R150H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146952	NM_007018.6(CNTRL):c.587G>A (p.Arg196Gln)	CNTRL (R196Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268392	NM_007018.6(CNTRL):c.613A>G (p.Ile205Val)	CNTRL (I205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146954	NM_007018.6(CNTRL):c.620C>T (p.Ser207Leu)	CNTRL (S207L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146955	NM_007018.6(CNTRL):c.637A>C (p.Lys213Gln)	CNTRL (K213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745659	NM_007018.6(CNTRL):c.654A>G (p.Gln218=)	CNTRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2397383	NM_007018.6(CNTRL):c.707A>G (p.Tyr236Cys)	CNTRL (Y69C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607078	NM_007018.6(CNTRL):c.719C>G (p.Thr240Ser)	CNTRL (T240S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495978	NM_007018.6(CNTRL):c.850A>G (p.Ile284Val)	CNTRL (I284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268385	NM_007018.6(CNTRL):c.851T>C (p.Ile284Thr)	CNTRL (I284T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146963	NM_007018.6(CNTRL):c.880A>G (p.Thr294Ala)	CNTRL (T127A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268380	NM_007018.6(CNTRL):c.931A>G (p.Lys311Glu)	CNTRL (K144E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146964	NM_007018.6(CNTRL):c.955C>G (p.Gln319Glu)	CNTRL (Q152E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 2244753	NM_007018.6(CNTRL):c.1082T>C (p.Ile361Thr)	CNTRL (I380T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545983	NM_007018.6(CNTRL):c.1124A>G (p.Tyr375Cys)	CNTRL (Y375C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344864	NM_007018.6(CNTRL):c.1163T>C (p.Ile388Thr)	CNTRL (I221T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146924	NM_007018.6(CNTRL):c.1178A>T (p.Tyr393Phe)	CNTRL (Y412F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146925	NM_007018.6(CNTRL):c.1187A>G (p.Asn396Ser)	CNTRL (N396S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268375	NM_007018.6(CNTRL):c.1198A>G (p.Thr400Ala)	CNTRL (T419A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405770	NM_007018.6(CNTRL):c.1292G>A (p.Gly431Asp)	CNTRL (G431D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364281	NM_007018.6(CNTRL):c.1310C>T (p.Thr437Met)	CNTRL (T456M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146926	NM_007018.6(CNTRL):c.1322A>G (p.Asp441Gly)	CNTRL (D274G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659473	NM_007018.6(CNTRL):c.1455G>A (p.Lys485=)	CNTRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146927	NM_007018.6(CNTRL):c.1472A>G (p.Lys491Arg)	CNTRL (K510R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250588	NM_007018.6(CNTRL):c.1476C>A (p.Asp492Glu)	CNTRL (D511E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363204	NM_007018.6(CNTRL):c.1498G>A (p.Gly500Ser)	CNTRL (G333S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716925	NM_007018.6(CNTRL):c.1526G>A (p.Arg509His)	CNTRL (R342H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3146929	NM_007018.6(CNTRL):c.1546G>C (p.Glu516Gln)	CNTRL (E349Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783029	NM_007018.6(CNTRL):c.1622A>T (p.Asp541Val)	CNTRL (D374V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2277197	NM_007018.6(CNTRL):c.1673G>A (p.Ser558Asn)	CNTRL (S577N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284784	NM_007018.6(CNTRL):c.1726A>T (p.Ser576Cys)	CNTRL (S24C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268390	NM_007018.6(CNTRL):c.1834A>G (p.Lys612Glu)	CNTRL (K445E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618456	NM_007018.6(CNTRL):c.1846G>A (p.Gly616Ser)	CNTRL (G449S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273507	NM_007018.6(CNTRL):c.1940A>C (p.Glu647Ala)	CNTRL (E480A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146930	NM_007018.6(CNTRL):c.2008G>A (p.Ala670Thr)	CNTRL (A689T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268396	NM_007018.6(CNTRL):c.2045G>A (p.Ser682Asn)	CNTRL (S130N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495224	NM_007018.6(CNTRL):c.2050C>T (p.Leu684Phe)	CNTRL (L684F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146931	NM_007018.6(CNTRL):c.2194C>G (p.Leu732Val)	CNTRL (L732V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709248	NM_007018.6(CNTRL):c.2201A>G (p.Gln734Arg)	CNTRL (Q567R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3146932	NM_007018.6(CNTRL):c.2278T>A (p.Phe760Ile)	CNTRL (F593I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146933	NM_007018.6(CNTRL):c.2414G>A (p.Arg805His)	CNTRL (R638H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2375498	NM_007018.6(CNTRL):c.2419G>A (p.Glu807Lys)	CNTRL (E640K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205849	NM_007018.6(CNTRL):c.2434C>T (p.Arg812Cys)	CNTRL (R812C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265059	NM_007018.6(CNTRL):c.2435G>A (p.Arg812His)	CNTRL (R260H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230035	NM_007018.6(CNTRL):c.2443G>A (p.Glu815Lys)	CNTRL (E815K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375614	NM_007018.6(CNTRL):c.2557C>T (p.Arg853Cys)	CNTRL (R686C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411005	NM_007018.6(CNTRL):c.2587G>A (p.Val863Ile)	CNTRL (V882I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219667	NM_007018.6(CNTRL):c.2607A>C (p.Gln869His)	CNTRL (Q869H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268383	NM_007018.6(CNTRL):c.2714A>C (p.His905Pro)	CNTRL (H905P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618084	NM_007018.6(CNTRL):c.2830A>G (p.Lys944Glu)	CNTRL (K963E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788595	NM_007018.6(CNTRL):c.2861T>C (p.Leu954Ser)	CNTRL (L954S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3268389	NM_007018.6(CNTRL):c.2888C>T (p.Ala963Val)	CNTRL (A796V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380530	NM_007018.6(CNTRL):c.2912G>A (p.Gly971Asp)	CNTRL (G804D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217696	NM_007018.6(CNTRL):c.2998C>G (p.Gln1000Glu)	CNTRL (Q1019E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146935	NM_007018.6(CNTRL):c.3002T>C (p.Leu1001Pro)	CNTRL (L449P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146936	NM_007018.6(CNTRL):c.3013C>T (p.His1005Tyr)	CNTRL (H1005Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146937	NM_007018.6(CNTRL):c.3115G>A (p.Ala1039Thr)	CNTRL (A1039T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217276	NM_007018.6(CNTRL):c.3182T>C (p.Met1061Thr)	CNTRL (M894T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268397	NM_007018.6(CNTRL):c.3248C>G (p.Thr1083Arg)	CNTRL (T1083R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395652	NM_007018.6(CNTRL):c.3257G>A (p.Arg1086Gln)	CNTRL (R1086Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268384	NM_007018.6(CNTRL):c.3263G>A (p.Arg1088Lys)	CNTRL (R1088K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378919	NM_007018.6(CNTRL):c.3359G>A (p.Arg1120Gln)	CNTRL (R1120Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268394	NM_007018.6(CNTRL):c.3362G>A (p.Arg1121His)	CNTRL (R569H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491917	NM_007018.6(CNTRL):c.3433T>A (p.Phe1145Ile)	CNTRL (F1145I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146938	NM_007018.6(CNTRL):c.3436A>G (p.Met1146Val)	CNTRL (M594V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359740	NM_007018.6(CNTRL):c.3442C>T (p.Pro1148Ser)	CNTRL (P981S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146939	NM_007018.6(CNTRL):c.3448C>T (p.Pro1150Ser)	CNTRL (P598S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146940	NM_007018.6(CNTRL):c.3484A>T (p.Thr1162Ser)	CNTRL (T995S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268373	NM_007018.6(CNTRL):c.3529G>C (p.Val1177Leu)	CNTRL (V1196L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268377	NM_007018.6(CNTRL):c.3541C>A (p.Arg1181Ser)	CNTRL (R1014S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268374	NM_007018.6(CNTRL):c.3541C>T (p.Arg1181Cys)	CNTRL (R1200C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3268395	NM_007018.6(CNTRL):c.3583C>A (p.Pro1195Thr)	CNTRL (P1028T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146941	NM_007018.6(CNTRL):c.3620G>A (p.Ser1207Asn)	CNTRL (S1040N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146942	NM_007018.6(CNTRL):c.3647G>T (p.Arg1216Ile)	CNTRL (R664I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261872	NM_007018.6(CNTRL):c.3700G>C (p.Glu1234Gln)	CNTRL (E1234Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146943	NM_007018.6(CNTRL):c.3736A>G (p.Met1246Val)	CNTRL (M1079V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341432	NM_007018.6(CNTRL):c.3778A>G (p.Met1260Val)	CNTRL (M1260V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294181	NM_007018.6(CNTRL):c.3781G>A (p.Ala1261Thr)	CNTRL (A1094T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146944	NM_007018.6(CNTRL):c.3793C>T (p.Pro1265Ser)	CNTRL (P713S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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