ClinVar for Gene (Select 11064) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3146961	NM_007018.6(CNTRL):c.6836G>A (p.Arg2279Lys)	CNTRL (R1680K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146960	NM_007018.6(CNTRL):c.6803G>A (p.Arg2268Gln)	CNTRL (R1669Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146959	NM_007018.6(CNTRL):c.6706G>A (p.Ala2236Thr)	CNTRL (A1637T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146958	NM_007018.6(CNTRL):c.6667T>A (p.Ser2223Thr)	CNTRL (S1671T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146957	NM_007018.6(CNTRL):c.6619C>T (p.Leu2207Phe)	CNTRL (L1655F +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146956	NM_007018.6(CNTRL):c.6526A>C (p.Asn2176His)	CNTRL (N2176H +2 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 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 3146953	NM_007018.6(CNTRL):c.5896A>G (p.Thr1966Ala)	CNTRL (T1966A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3146951	NM_007018.6(CNTRL):c.5582A>T (p.Glu1861Val)	CNTRL (E1309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146950	NM_007018.6(CNTRL):c.5547T>A (p.His1849Gln)	CNTRL (H1297Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146949	NM_007018.6(CNTRL):c.5495G>T (p.Arg1832Ile)	CNTRL (R1280I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146948	NM_007018.6(CNTRL):c.5384A>G (p.Lys1795Arg)	CNTRL (K1795R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146947	NM_007018.6(CNTRL):c.5070G>C (p.Gln1690His)	CNTRL (Q1523H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146946	NM_007018.6(CNTRL):c.4532A>T (p.His1511Leu)	CNTRL (H1344L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3146945	NM_007018.6(CNTRL):c.4108A>C (p.Lys1370Gln)	CNTRL (K1370Q +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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2659475	NM_007018.6(CNTRL):c.5809G>A (p.Glu1937Lys)	CNTRL (E1385K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659474	NM_007018.6(CNTRL):c.4224A>G (p.Glu1408=)	CNTRL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2659473	NM_007018.6(CNTRL):c.1455G>A (p.Lys485=)	CNTRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620258	NM_007018.6(CNTRL):c.6848C>A (p.Ala2283Asp)	CNTRL (A1731D +2 more)	Single nucleotide variant (missense variant)	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 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 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 2606808	NM_007018.6(CNTRL):c.5065A>G (p.Arg1689Gly)	CNTRL (R1137G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2602755	NM_007018.6(CNTRL):c.5563A>G (p.Met1855Val)	CNTRL (M1303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599911	NM_007018.6(CNTRL):c.4292G>A (p.Arg1431His)	CNTRL (R1264H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595253	NM_007018.6(CNTRL):c.6421G>A (p.Ala2141Thr)	CNTRL (A1542T +2 more)	Single nucleotide variant (missense variant)	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 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 2555129	NM_007018.6(CNTRL):c.6127G>A (p.Ala2043Thr)	CNTRL (A2043T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552225	NM_007018.6(CNTRL):c.6693C>G (p.His2231Gln)	CNTRL (H1632Q +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 2541722	NM_007018.6(CNTRL):c.5644C>A (p.Leu1882Ile)	CNTRL (L1882I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523769	NM_007018.6(CNTRL):c.5588G>A (p.Arg1863Gln)	CNTRL (R1311Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 2495687	NM_007018.6(CNTRL):c.3851G>T (p.Gly1284Val)	CNTRL (G1284V +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 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 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 2487524	NM_007018.6(CNTRL):c.3859C>G (p.Pro1287Ala)	CNTRL (P1120A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479860	NM_007018.6(CNTRL):c.4681G>A (p.Glu1561Lys)	CNTRL (E1394K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478232	NM_007018.6(CNTRL):c.6362G>A (p.Arg2121His)	CNTRL (R1569H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476559	NM_007018.6(CNTRL):c.6220G>A (p.Ala2074Thr)	CNTRL (A1522T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476558	NM_007018.6(CNTRL):c.6151A>G (p.Met2051Val)	CNTRL (M2051V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472920	NM_007018.6(CNTRL):c.6643C>G (p.Pro2215Ala)	CNTRL (P1663A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457261	NM_007018.6(CNTRL):c.4661T>C (p.Ile1554Thr)	CNTRL (I1002T +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 2409749	NM_007018.6(CNTRL):c.5575C>T (p.Leu1859Phe)	CNTRL (L1307F +1 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 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 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 2381415	NM_007018.6(CNTRL):c.5734G>A (p.Ala1912Thr)	CNTRL (A1912T +1 more)	Single nucleotide variant (missense variant)	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 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 2378047	NM_007018.6(CNTRL):c.4038A>C (p.Arg1346Ser)	CNTRL (R1179S +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 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 2371219	NM_007018.6(CNTRL):c.5617C>G (p.Leu1873Val)	CNTRL (L1873V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366278	NM_007018.6(CNTRL):c.5297G>A (p.Arg1766Gln)	CNTRL (R1214Q +1 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 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 2362380	NM_007018.6(CNTRL):c.6151A>T (p.Met2051Leu)	CNTRL (M1499L +1 more)	Single nucleotide variant (missense variant)	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 2352202	NM_007018.6(CNTRL):c.4055C>T (p.Ser1352Leu)	CNTRL (S800L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345923	NM_007018.6(CNTRL):c.6547C>A (p.Pro2183Thr)	CNTRL (P1584T +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 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 2341175	NM_007018.6(CNTRL):c.6740G>A (p.Arg2247Gln)	CNTRL (R1695Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335235	NM_007018.6(CNTRL):c.6369G>A (p.Met2123Ile)	CNTRL (M2123I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332492	NM_007018.6(CNTRL):c.5970C>G (p.Asp1990Glu)	CNTRL (D1990E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2288804	NM_007018.6(CNTRL):c.3821G>A (p.Arg1274Gln)	CNTRL (R1293Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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

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