ClinVar for Gene (Select 9940) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272224	NM_007335.4(DLEC1):c.2731C>G (p.Pro911Ala)	DLEC1 (P911A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272223	NM_007335.4(DLEC1):c.1766A>T (p.Gln589Leu)	DLEC1 (Q589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272222	NM_007335.4(DLEC1):c.2265G>C (p.Gln755His)	DLEC1 (Q755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272220	NM_007335.4(DLEC1):c.13A>G (p.Ser5Gly)	DLEC1 (S5G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272219	NM_007335.4(DLEC1):c.4300A>C (p.Ser1434Arg)	DLEC1 (S1434R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272218	NM_007335.4(DLEC1):c.1876C>G (p.Leu626Val)	DLEC1 (L626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272217	NM_007335.4(DLEC1):c.715G>A (p.Glu239Lys)	DLEC1 (E239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272216	NM_007335.4(DLEC1):c.3379C>T (p.Arg1127Cys)	DLEC1 (R1127C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082744	NM_007335.4(DLEC1):c.988C>A (p.Pro330Thr)	DLEC1 (P330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082743	NM_007335.4(DLEC1):c.925C>G (p.Gln309Glu)	DLEC1 (Q309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082740	NM_007335.4(DLEC1):c.5196G>T (p.Glu1732Asp)	DLEC1 (E1735D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082739	NM_007335.4(DLEC1):c.506G>A (p.Arg169Gln)	DLEC1 (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082738	NM_007335.4(DLEC1):c.4997G>C (p.Arg1666Pro)	DLEC1 (R1669P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082737	NM_007335.4(DLEC1):c.4931T>G (p.Phe1644Cys)	DLEC1 (F1644C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082736	NM_007335.4(DLEC1):c.4771C>G (p.Leu1591Val)	DLEC1 (L1591V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082735	NM_007335.4(DLEC1):c.4468G>A (p.Glu1490Lys)	DLEC1 (E1490K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082734	NM_007335.4(DLEC1):c.4430G>A (p.Ser1477Asn)	DLEC1 (S1477N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082733	NM_007335.4(DLEC1):c.4134G>C (p.Glu1378Asp)	DLEC1 (E1381D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082732	NM_007335.4(DLEC1):c.4121T>C (p.Leu1374Pro)	DLEC1 (L1374P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082730	NM_007335.4(DLEC1):c.395T>C (p.Val132Ala)	DLEC1 (V132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082729	NM_007335.4(DLEC1):c.3827C>T (p.Thr1276Ile)	DLEC1 (T1279I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082728	NM_007335.4(DLEC1):c.3813C>G (p.Asp1271Glu)	DLEC1 (D1271E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082727	NM_007335.4(DLEC1):c.3809G>T (p.Gly1270Val)	DLEC1 (G1270V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082726	NM_007335.4(DLEC1):c.3794C>G (p.Thr1265Ser)	DLEC1 (T1265S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082725	NM_007335.4(DLEC1):c.3793A>G (p.Thr1265Ala)	DLEC1 (T1268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082724	NM_007335.4(DLEC1):c.3790G>A (p.Gly1264Ser)	DLEC1 (G1264S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082723	NM_007335.4(DLEC1):c.3705G>A (p.Met1235Ile)	DLEC1 (M1235I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082722	NM_007335.4(DLEC1):c.367A>G (p.Ser123Gly)	DLEC1 (S123G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082721	NM_007335.4(DLEC1):c.355A>G (p.Lys119Glu)	DLEC1 (K119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082720	NM_007335.4(DLEC1):c.3128A>G (p.Gln1043Arg)	DLEC1 (Q1043R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082719	NM_007335.4(DLEC1):c.3025G>A (p.Gly1009Arg)	DLEC1 (G1009R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082718	NM_007335.4(DLEC1):c.2887G>T (p.Val963Leu)	DLEC1 (V963L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082717	NM_007335.4(DLEC1):c.2852A>T (p.Asn951Ile)	DLEC1 (N951I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082716	NM_007335.4(DLEC1):c.2797T>G (p.Leu933Val)	DLEC1 (L933V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082715	NM_007335.4(DLEC1):c.2646G>T (p.Gln882His)	DLEC1 (Q882H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082714	NM_007335.4(DLEC1):c.2392G>A (p.Asp798Asn)	DLEC1 (D798N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082713	NM_007335.4(DLEC1):c.2384A>G (p.Lys795Arg)	DLEC1 (K795R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082712	NM_007335.4(DLEC1):c.2332G>A (p.Ala778Thr)	DLEC1 (A778T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082711	NM_007335.4(DLEC1):c.227A>T (p.Glu76Val)	DLEC1, LOC129936479 (E76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082710	NM_007335.4(DLEC1):c.226G>A (p.Glu76Lys)	DLEC1, LOC129936479 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082709	NM_007335.4(DLEC1):c.2266G>T (p.Val756Phe)	DLEC1 (V756F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082708	NM_007335.4(DLEC1):c.2003G>C (p.Ser668Thr)	DLEC1 (S668T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082707	NM_007335.4(DLEC1):c.1880G>A (p.Arg627Gln)	DLEC1 (R627Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082705	NM_007335.4(DLEC1):c.1551C>G (p.Ser517Arg)	DLEC1 (S517R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082704	NM_007335.4(DLEC1):c.1238C>T (p.Thr413Met)	DLEC1 (T413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024731	NM_007335.4(DLEC1):c.2026G>A (p.Glu676Lys)	DLEC1 (E676K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685914	GRCh37/hg19 3p22.2(chr3:37338764-38109534)x3	APRG1, CTDSPL +6 more	Copy number gain	not provided	GUncertain significance
Select item 2653667	NM_007335.4(DLEC1):c.5150G>A (p.Ser1717Asn)	DLEC1 (S1717N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653666	NM_007335.4(DLEC1):c.3331C>T (p.Arg1111Cys)	DLEC1 (R1111C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653665	NM_007335.4(DLEC1):c.2112+6G>C	DLEC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653664	NM_007335.4(DLEC1):c.1757-6T>G	DLEC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653663	NM_007335.4(DLEC1):c.1203G>C (p.Thr401=)	DLEC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653662	NM_007335.4(DLEC1):c.578G>A (p.Arg193Lys)	DLEC1 (R193K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653661	NM_007335.4(DLEC1):c.250C>T (p.Pro84Ser)	DLEC1, LOC129936479 (P84S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622022	NM_007335.4(DLEC1):c.4563G>A (p.Met1521Ile)	DLEC1 (M1521I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621265	NM_007335.4(DLEC1):c.50A>G (p.Asn17Ser)	DLEC1, LOC129936479 (N17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617818	NM_007335.4(DLEC1):c.872A>G (p.Lys291Arg)	DLEC1 (K291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616598	NM_007335.4(DLEC1):c.305A>G (p.Asn102Ser)	DLEC1 (N102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615021	NM_007335.4(DLEC1):c.2097C>G (p.Ser699Arg)	DLEC1 (S699R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612465	NM_007335.4(DLEC1):c.1335C>G (p.Asp445Glu)	DLEC1 (D445E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611930	NM_007335.4(DLEC1):c.25C>T (p.Arg9Trp)	DLEC1 (R9W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611159	NM_007335.4(DLEC1):c.485G>T (p.Arg162Leu)	DLEC1 (R162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610553	NM_007335.4(DLEC1):c.44G>A (p.Arg15Gln)	DLEC1 (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600320	NM_007335.4(DLEC1):c.446T>C (p.Phe149Ser)	DLEC1 (F149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598950	NM_007335.4(DLEC1):c.1643C>T (p.Pro548Leu)	DLEC1 (P548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593718	NM_007335.4(DLEC1):c.416G>A (p.Arg139Gln)	DLEC1 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591468	NM_007335.4(DLEC1):c.2557G>A (p.Val853Ile)	DLEC1 (V853I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589917	NM_007335.4(DLEC1):c.1759A>G (p.Ile587Val)	DLEC1 (I587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589333	NM_007335.4(DLEC1):c.461G>A (p.Arg154Lys)	DLEC1 (R154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588951	NM_007335.4(DLEC1):c.2476G>T (p.Gly826Cys)	DLEC1 (G826C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569786	NM_007335.4(DLEC1):c.5190C>T (p.Leu1730=)	DLEC1 (S1689L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2563609	NM_007335.4(DLEC1):c.2441G>A (p.Ser814Asn)	DLEC1 (S814N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2557097	NM_007335.4(DLEC1):c.4250T>C (p.Leu1417Pro)	DLEC1 (L1417P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551487	NM_007335.4(DLEC1):c.2080C>T (p.His694Tyr)	DLEC1 (H694Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550571	NM_007335.4(DLEC1):c.1856T>C (p.Ile619Thr)	DLEC1 (I619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543712	NM_007335.4(DLEC1):c.2275G>A (p.Glu759Lys)	DLEC1 (E759K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535230	NM_007335.4(DLEC1):c.1457G>A (p.Gly486Asp)	DLEC1 (G486D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527395	NM_007335.4(DLEC1):c.4033T>C (p.Ser1345Pro)	DLEC1 (S1345P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521966	NM_007335.4(DLEC1):c.1918A>T (p.Thr640Ser)	DLEC1 (T640S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521652	NM_007335.4(DLEC1):c.3580A>G (p.Met1194Val)	DLEC1 (M1194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518599	NM_007335.4(DLEC1):c.*117G>C	DLEC1 (S1754T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2513404	NM_007335.4(DLEC1):c.2539G>T (p.Val847Leu)	DLEC1 (V847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511518	NM_001607.4(ACAA1):c.1246G>A (p.Ala416Thr)	ACAA1, DLEC1 (A323T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510817	NM_007335.4(DLEC1):c.2741T>C (p.Ile914Thr)	DLEC1 (I914T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489574	NM_007335.4(DLEC1):c.1250C>A (p.Ala417Asp)	DLEC1 (A417D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487215	NM_007335.4(DLEC1):c.653C>T (p.Pro218Leu)	DLEC1 (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483760	NM_007335.4(DLEC1):c.3847A>T (p.Ser1283Cys)	DLEC1 (S1286C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480859	NM_007335.4(DLEC1):c.1145C>A (p.Thr382Lys)	DLEC1 (T382K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480233	NM_007335.4(DLEC1):c.3767A>G (p.Gln1256Arg)	DLEC1 (Q1256R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476909	NM_007335.4(DLEC1):c.1201A>G (p.Thr401Ala)	DLEC1 (T401A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2473501	NM_007335.4(DLEC1):c.2845G>A (p.Val949Met)	DLEC1 (V949M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472914	NM_007335.4(DLEC1):c.5245T>G (p.Tyr1749Asp)	DLEC1 (D1707E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469649	NM_007335.4(DLEC1):c.1649A>G (p.His550Arg)	DLEC1 (H550R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466633	NM_007335.4(DLEC1):c.2615G>A (p.Arg872His)	DLEC1 (R872H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462596	NM_007335.4(DLEC1):c.914T>C (p.Leu305Ser)	DLEC1 (L305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405337	NM_007335.4(DLEC1):c.*6C>T	DLEC1 (P1717L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2402772	NM_007335.4(DLEC1):c.5232C>T (p.Ser1744=)	DLEC1 (P1703L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2393015	NM_007335.4(DLEC1):c.1291G>T (p.Ala431Ser)	DLEC1 (A431S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390815	NM_007335.4(DLEC1):c.4745A>G (p.Tyr1582Cys)	DLEC1 (Y1582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387709	NM_007335.4(DLEC1):c.*71C>A	DLEC1 (L1739I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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