ClinVar for Gene (Select 90342) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 186

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3094422	NM_001293083.2(FER1L5):c.6160G>C (p.Ala2054Pro)	FER1L5 (A2054P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094421	NM_001293083.2(FER1L5):c.6089C>A (p.Thr2030Lys)	FER1L5 (T2030K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094420	NM_001293083.2(FER1L5):c.59G>A (p.Arg20Lys)	FER1L5 (R20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094419	NM_001293083.2(FER1L5):c.467C>T (p.Ala156Val)	FER1L5 (A156V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094418	NM_001293083.2(FER1L5):c.4532T>C (p.Val1511Ala)	FER1L5 (V1511A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094417	NM_001293083.2(FER1L5):c.4261G>A (p.Val1421Met)	FER1L5 (V1421M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094416	NM_001293083.2(FER1L5):c.4172T>C (p.Leu1391Pro)	FER1L5 (L1391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094415	NM_001293083.2(FER1L5):c.4111T>C (p.Trp1371Arg)	FER1L5 (W1371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094414	NM_001293083.2(FER1L5):c.4071G>T (p.Lys1357Asn)	FER1L5 (K1357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094413	NM_001293083.2(FER1L5):c.4045C>A (p.Pro1349Thr)	FER1L5 (P1349T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094412	NM_001293083.2(FER1L5):c.4027G>A (p.Ala1343Thr)	FER1L5 (A1343T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094411	NM_001293083.2(FER1L5):c.3911A>C (p.Glu1304Ala)	FER1L5 (E1304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094410	NM_001293083.2(FER1L5):c.3555G>A (p.Met1185Ile)	FER1L5 (M1185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094409	NM_001293083.2(FER1L5):c.3551C>G (p.Pro1184Arg)	FER1L5 (P1184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094408	NM_001293083.2(FER1L5):c.3496C>T (p.Arg1166Trp)	FER1L5 (R1166W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094407	NM_001293083.2(FER1L5):c.3076-98G>T	FER1L5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3094406	NM_001293083.2(FER1L5):c.3014G>A (p.Arg1005His)	FER1L5 (R1005H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094405	NM_001293083.2(FER1L5):c.2995C>T (p.Arg999Cys)	FER1L5 (R999C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094404	NM_001293083.2(FER1L5):c.2989C>T (p.Arg997Trp)	FER1L5 (R997W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094403	NM_001293083.2(FER1L5):c.2849G>T (p.Arg950Leu)	FER1L5 (R950L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094402	NM_001293083.2(FER1L5):c.2840C>T (p.Ala947Val)	FER1L5 (A947V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094401	NM_001293083.2(FER1L5):c.2819C>T (p.Ser940Leu)	FER1L5 (S940L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094400	NM_001293083.2(FER1L5):c.2590C>T (p.Arg864Cys)	FER1L5 (R864C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094399	NM_001293083.2(FER1L5):c.2474C>T (p.Pro825Leu)	FER1L5 (P825L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094398	NM_001293083.2(FER1L5):c.2462C>T (p.Thr821Met)	FER1L5 (T821M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094397	NM_001293083.2(FER1L5):c.2284A>G (p.Met762Val)	FER1L5 (M762V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094396	NM_001293083.2(FER1L5):c.2191G>A (p.Gly731Ser)	FER1L5 (G731S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094395	NM_001293083.2(FER1L5):c.2156C>G (p.Ser719Cys)	FER1L5 (S719C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094394	NM_001293083.2(FER1L5):c.1790G>A (p.Arg597His)	FER1L5 (R597H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094393	NM_001293083.2(FER1L5):c.1417G>C (p.Glu473Gln)	FER1L5 (E473Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094392	NM_001293083.2(FER1L5):c.1306T>G (p.Phe436Val)	FER1L5 (F436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094391	NM_001293083.2(FER1L5):c.1244C>T (p.Ser415Leu)	FER1L5 (S415L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094389	NM_001293083.2(FER1L5):c.1187G>A (p.Arg396His)	FER1L5 (R396H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ANKRD36, ADRA2B +19 more	Copy number loss	not provided	GPathogenic
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685858	GRCh37/hg19 2q11.1-11.2(chr2:96732520-97671333)x3	ADRA2B, ANKRD23 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671593	Single allele	ADRA2B, ANKRD23 +20 more	Deletion	not provided	GUncertain significance
Select item 2622254	NM_001293083.2(FER1L5):c.4917G>C (p.Lys1639Asn)	FER1L5 (K1639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616479	NM_001293083.2(FER1L5):c.5633A>C (p.Lys1878Thr)	FER1L5 (K1878T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612545	NM_001293083.2(FER1L5):c.4802G>A (p.Arg1601Gln)	FER1L5 (R1601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610400	NM_001293083.2(FER1L5):c.6106A>G (p.Lys2036Glu)	FER1L5 (K2036E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608186	NM_001293083.2(FER1L5):c.1925C>T (p.Pro642Leu)	FER1L5 (P642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604240	NM_001293083.2(FER1L5):c.346G>A (p.Val116Ile)	FER1L5 (V116I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599807	NM_001293083.2(FER1L5):c.5377A>G (p.Thr1793Ala)	FER1L5 (T1793A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597792	NM_001293083.2(FER1L5):c.1000G>A (p.Ala334Thr)	FER1L5 (A334T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593966	NM_001293083.2(FER1L5):c.1133G>A (p.Arg378Gln)	FER1L5 (R378Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593407	NM_001293083.2(FER1L5):c.3995A>T (p.Asp1332Val)	FER1L5 (D1332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591998	NM_001293083.2(FER1L5):c.1270G>C (p.Val424Leu)	FER1L5 (V424L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590837	NM_001293083.2(FER1L5):c.5869C>T (p.Arg1957Cys)	FER1L5 (R1957C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589396	NM_001293083.2(FER1L5):c.5831G>A (p.Arg1944Gln)	FER1L5 (R1944Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558600	NM_001293083.2(FER1L5):c.1267+15G>C	FER1L5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2554434	NM_001293083.2(FER1L5):c.5263T>C (p.Tyr1755His)	FER1L5 (Y1755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550105	NM_001293083.2(FER1L5):c.3257G>A (p.Arg1086Gln)	FER1L5 (R1086Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538026	NM_001293083.2(FER1L5):c.3350G>A (p.Ser1117Asn)	FER1L5 (S1117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534858	NM_001293083.2(FER1L5):c.2179G>C (p.Ala727Pro)	FER1L5 (A727P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533857	NM_001293083.2(FER1L5):c.3011G>A (p.Arg1004His)	FER1L5 (R1004H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532728	NM_001293083.2(FER1L5):c.3554T>C (p.Met1185Thr)	FER1L5 (M1185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521383	NM_001293083.2(FER1L5):c.6130C>G (p.His2044Asp)	FER1L5 (H2044D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521382	NM_001293083.2(FER1L5):c.6122C>G (p.Pro2041Arg)	FER1L5 (P2041R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520449	NM_001293083.2(FER1L5):c.1202C>T (p.Pro401Leu)	FER1L5 (P401L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515826	NM_001293083.2(FER1L5):c.59G>C (p.Arg20Thr)	FER1L5 (R20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515461	NM_001293083.2(FER1L5):c.3977C>T (p.Thr1326Met)	FER1L5 (T1326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511624	NM_001293083.2(FER1L5):c.3190C>A (p.Pro1064Thr)	FER1L5 (P1064T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509878	NM_001293083.2(FER1L5):c.6073C>T (p.Pro2025Ser)	FER1L5 (P2025S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495235	NM_001293083.2(FER1L5):c.2888C>T (p.Thr963Ile)	FER1L5 (T963I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494913	NM_001293083.2(FER1L5):c.176A>C (p.Asn59Thr)	FER1L5 (N59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487458	NM_001293083.2(FER1L5):c.3010C>T (p.Arg1004Cys)	FER1L5 (R1004C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486401	NM_001293083.2(FER1L5):c.5813C>G (p.Thr1938Ser)	FER1L5 (T1938S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483161	NM_001293083.2(FER1L5):c.3595G>A (p.Gly1199Ser)	FER1L5 (G1199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478245	NM_001293083.2(FER1L5):c.1267+27T>C	FER1L5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2473181	NM_001293083.2(FER1L5):c.3127C>G (p.Pro1043Ala)	FER1L5 (P1043A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469151	NM_001293083.2(FER1L5):c.379G>T (p.Asp127Tyr)	FER1L5 (D127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468059	NM_001293083.2(FER1L5):c.4058C>T (p.Thr1353Met)	FER1L5 (T1353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465889	NM_001293083.2(FER1L5):c.1808A>G (p.Asp603Gly)	FER1L5 (D603G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461999	NM_001293083.2(FER1L5):c.5485G>A (p.Asp1829Asn)	FER1L5 (D1829N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458788	NM_001293083.2(FER1L5):c.4312C>G (p.Gln1438Glu)	FER1L5 (Q1438E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457819	NM_001293083.2(FER1L5):c.2158G>A (p.Val720Ile)	FER1L5 (V720I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2455347	NM_001293083.2(FER1L5):c.1099G>A (p.Asp367Asn)	FER1L5 (D367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454932	NM_001293083.2(FER1L5):c.2033C>T (p.Ala678Val)	FER1L5 (A678V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412180	NM_001293083.2(FER1L5):c.2533C>G (p.Leu845Val)	FER1L5 (L845V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405146	NM_001293083.2(FER1L5):c.952G>C (p.Ala318Pro)	FER1L5 (A318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402644	NM_001293083.2(FER1L5):c.5822C>T (p.Thr1941Met)	FER1L5 (T1941M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398046	NM_001293083.2(FER1L5):c.3961G>A (p.Gly1321Ser)	FER1L5 (G1321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397597	NM_001293083.2(FER1L5):c.281G>A (p.Ser94Asn)	FER1L5 (S94N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395546	NM_001293083.2(FER1L5):c.2990G>A (p.Arg997Gln)	FER1L5 (R997Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393217	NM_001293083.2(FER1L5):c.2353G>A (p.Ala785Thr)	FER1L5 (A785T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386619	NM_001293083.2(FER1L5):c.5483C>A (p.Pro1828His)	FER1L5 (P1828H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376883	NM_001293083.2(FER1L5):c.2884G>A (p.Glu962Lys)	FER1L5 (E962K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375849	NM_001293083.2(FER1L5):c.2964C>G (p.Phe988Leu)	FER1L5 (F988L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375625	NM_001293083.2(FER1L5):c.4267G>A (p.Ala1423Thr)	FER1L5 (A1423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369078	NM_001293083.2(FER1L5):c.5339G>A (p.Arg1780Gln)	FER1L5 (R1780Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368416	NM_001293083.2(FER1L5):c.4339G>A (p.Val1447Met)	FER1L5 (V1447M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361341	NM_001293083.2(FER1L5):c.3704A>G (p.Lys1235Arg)	FER1L5 (K1235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356046	NM_001293083.2(FER1L5):c.2830C>T (p.Arg944Trp)	FER1L5 (R944W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352540	NM_001293083.2(FER1L5):c.127G>A (p.Val43Met)	FER1L5 (V43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350971	NM_001293083.2(FER1L5):c.1726T>G (p.Ser576Ala)	FER1L5 (S576A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347804	NM_001293083.2(FER1L5):c.3514A>G (p.Met1172Val)	FER1L5 (M1172V)	Single nucleotide variant (missense variant)	not specified	GLikely benign

<< First< Prev

Page of 2