23207[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 60219	GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1	ACVR1, ACVR1C +333 more	Copy number loss	See cases	GPathogenic
Select item 3314298	NM_018151.5(RIF1):c.32C>A (p.Pro11Gln)	RIF1 (P11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523576	NM_018151.5(RIF1):c.68A>G (p.His23Arg)	RIF1 (H23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464994	NM_018151.5(RIF1):c.122A>G (p.Glu41Gly)	RIF1 (E41G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154239	NM_018151.5(RIF1):c.173A>G (p.Lys58Arg)	RIF1 (K58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327517	NM_018151.5(RIF1):c.190A>G (p.Ile64Val)	RIF1 (I64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382476	NM_018151.5(RIF1):c.206C>T (p.Ser69Leu)	RIF1 (S69L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154253	NM_018151.5(RIF1):c.336C>A (p.Asp112Glu)	RIF1 (D112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517808	NM_018151.5(RIF1):c.499G>A (p.Val167Ile)	RIF1 (V167I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214151	NM_018151.5(RIF1):c.598C>A (p.His200Asn)	RIF1 (H200N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362200	NM_018151.5(RIF1):c.605G>A (p.Arg202Gln)	RIF1 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154278	NM_018151.5(RIF1):c.661A>G (p.Ile221Val)	RIF1 (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303286	NM_018151.5(RIF1):c.864G>A (p.Met288Ile)	RIF1 (M288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512610	NM_018151.5(RIF1):c.865A>G (p.Ile289Val)	RIF1 (I289V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154283	NM_018151.5(RIF1):c.886G>A (p.Ala296Thr)	RIF1 (A296T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409415	NM_018151.5(RIF1):c.901A>G (p.Ile301Val)	RIF1 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154235	NM_018151.5(RIF1):c.1103C>G (p.Thr368Arg)	RIF1 (T368R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292616	NM_018151.5(RIF1):c.1103C>T (p.Thr368Ile)	RIF1 (T368I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154236	NM_018151.5(RIF1):c.1199C>A (p.Ala400Asp)	RIF1 (A400D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314303	NM_018151.5(RIF1):c.1220C>T (p.Pro407Leu)	RIF1 (P407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248375	NM_018151.5(RIF1):c.1256G>T (p.Gly419Val)	RIF1 (G419V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467496	NM_018151.5(RIF1):c.1339T>G (p.Phe447Val)	RIF1 (F447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240000	NM_018151.5(RIF1):c.1382A>G (p.Glu461Gly)	RIF1 (E461G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154237	NM_018151.5(RIF1):c.1388C>G (p.Pro463Arg)	RIF1 (P463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558157	NM_018151.5(RIF1):c.1388C>T (p.Pro463Leu)	RIF1 (P463L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488065	NM_018151.5(RIF1):c.1460T>G (p.Val487Gly)	RIF1 (V487G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651420	NM_018151.5(RIF1):c.1635A>T (p.Val545=)	RIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2565032	NM_018151.5(RIF1):c.1639A>G (p.Lys547Glu)	RIF1 (K547E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154238	NM_018151.5(RIF1):c.1669A>G (p.Lys557Glu)	RIF1 (K557E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256604	NM_018151.5(RIF1):c.1693G>A (p.Gly565Ser)	RIF1 (G565S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154240	NM_018151.5(RIF1):c.2005G>A (p.Gly669Ser)	RIF1 (G669S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314305	NM_018151.5(RIF1):c.2020C>T (p.His674Tyr)	RIF1 (H674Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340598	NM_018151.5(RIF1):c.2070T>G (p.Ile690Met)	RIF1 (I690M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154241	NM_018151.5(RIF1):c.2117G>A (p.Arg706Lys)	RIF1 (R706K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154242	NM_018151.5(RIF1):c.2211G>C (p.Lys737Asn)	RIF1 (K737N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394482	NM_018151.5(RIF1):c.2240T>C (p.Phe747Ser)	RIF1 (F747S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287871	NM_018151.5(RIF1):c.2243C>T (p.Ser748Phe)	RIF1 (S748F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499636	GRCh38/hg38 2q23.3(chr2:151451642-151807929)	ARL5A, LOC108348024 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2494045	NM_018151.5(RIF1):c.2371A>G (p.Lys791Glu)	RIF1 (K791E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154243	NM_018151.5(RIF1):c.2386C>T (p.Pro796Ser)	RIF1 (P796S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154244	NM_018151.5(RIF1):c.2420T>C (p.Ile807Thr)	RIF1 (I807T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154245	NM_018151.5(RIF1):c.2467C>G (p.His823Asp)	RIF1 (H823D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286502	NM_018151.5(RIF1):c.2477C>T (p.Thr826Ile)	RIF1 (T826I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747280	NM_018151.5(RIF1):c.2487T>A (p.Thr829=)	RIF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606091	NM_018151.5(RIF1):c.2518A>T (p.Ser840Cys)	RIF1 (S840C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154246	NM_018151.5(RIF1):c.2521G>C (p.Val841Leu)	RIF1 (V841L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485957	NM_018151.5(RIF1):c.2537C>G (p.Ser846Cys)	RIF1 (S846C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570505	NM_018151.5(RIF1):c.2539T>A (p.Leu847Met)	RIF1 (L847M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218977	NM_018151.5(RIF1):c.2575A>G (p.Thr859Ala)	RIF1 (T859A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154247	NM_018151.5(RIF1):c.2648A>G (p.Asn883Ser)	RIF1 (N883S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154248	NM_018151.5(RIF1):c.2676T>G (p.Ile892Met)	RIF1 (I892M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389468	NM_018151.5(RIF1):c.2749T>C (p.Cys917Arg)	RIF1 (C917R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235410	NM_018151.5(RIF1):c.2752A>G (p.Ile918Val)	RIF1 (I918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557344	NM_018151.5(RIF1):c.2903G>C (p.Gly968Ala)	RIF1 (G968A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651421	NM_018151.5(RIF1):c.2956A>G (p.Thr986Ala)	RIF1 (T986A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2317284	NM_018151.5(RIF1):c.2963A>T (p.Asn988Ile)	RIF1 (N988I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154249	NM_018151.5(RIF1):c.3124G>A (p.Glu1042Lys)	RIF1 (E1042K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154250	NM_018151.5(RIF1):c.3143A>G (p.Asp1048Gly)	RIF1 (D1048G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154251	NM_018151.5(RIF1):c.3176C>T (p.Ala1059Val)	RIF1 (A1059V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486060	NM_018151.5(RIF1):c.3247T>A (p.Tyr1083Asn)	RIF1 (Y1083N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154252	NM_018151.5(RIF1):c.3334C>G (p.Pro1112Ala)	RIF1 (P1112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522587	NM_018151.5(RIF1):c.3367G>A (p.Glu1123Lys)	RIF1 (E1123K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486995	NM_018151.5(RIF1):c.3418G>A (p.Gly1140Ser)	RIF1 (G1140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154254	NM_018151.5(RIF1):c.3454A>G (p.Asn1152Asp)	RIF1 (N1152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599503	NM_018151.5(RIF1):c.3476A>C (p.Asp1159Ala)	RIF1 (D1159A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314314	NM_018151.5(RIF1):c.3502A>G (p.Ser1168Gly)	RIF1 (S1168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154255	NM_018151.5(RIF1):c.3583T>G (p.Phe1195Val)	RIF1 (F1195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154256	NM_018151.5(RIF1):c.3596G>A (p.Ser1199Asn)	RIF1 (S1199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314307	NM_018151.5(RIF1):c.3643A>G (p.Thr1215Ala)	RIF1 (T1215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154257	NM_018151.5(RIF1):c.3683A>G (p.Asp1228Gly)	RIF1 (D1228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389375	NM_018151.5(RIF1):c.3705T>G (p.Phe1235Leu)	RIF1 (F1235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284962	NM_018151.5(RIF1):c.3715C>G (p.Pro1239Ala)	RIF1 (P1239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311919	NM_018151.5(RIF1):c.3716C>T (p.Pro1239Leu)	RIF1 (P1239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714800	NM_018151.5(RIF1):c.3721A>G (p.Asn1241Asp)	RIF1 (N1241D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3314313	NM_018151.5(RIF1):c.3737C>T (p.Thr1246Ile)	RIF1 (T1246I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314302	NM_018151.5(RIF1):c.3743C>T (p.Thr1248Ile)	RIF1 (T1248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365817	NM_018151.5(RIF1):c.3812C>G (p.Thr1271Ser)	RIF1 (T1271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154258	NM_018151.5(RIF1):c.3851C>A (p.Thr1284Asn)	RIF1 (T1284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154259	NM_018151.5(RIF1):c.3874G>A (p.Gly1292Ser)	RIF1 (G1292S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407810	NM_018151.5(RIF1):c.3909G>C (p.Lys1303Asn)	RIF1 (K1303N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253132	NM_018151.5(RIF1):c.3934A>G (p.Lys1312Glu)	RIF1 (K1312E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558955	NM_018151.5(RIF1):c.4010G>A (p.Cys1337Tyr)	RIF1 (C1337Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293814	NM_018151.5(RIF1):c.4030C>T (p.His1344Tyr)	RIF1 (H1344Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154260	NM_018151.5(RIF1):c.4049T>C (p.Met1350Thr)	RIF1 (M1350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382107	NM_018151.5(RIF1):c.4123G>A (p.Glu1375Lys)	RIF1 (E1375K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154261	NM_018151.5(RIF1):c.4169C>T (p.Pro1390Leu)	RIF1 (P1390L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542900	NM_018151.5(RIF1):c.4178T>C (p.Ile1393Thr)	RIF1 (I1393T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314312	NM_018151.5(RIF1):c.4250C>T (p.Ser1417Phe)	RIF1 (S1417F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284015	NM_018151.5(RIF1):c.4315C>G (p.Gln1439Glu)	RIF1 (Q1439E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154262	NM_018151.5(RIF1):c.4328G>A (p.Arg1443Gln)	RIF1 (R1443Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596666	NM_018151.5(RIF1):c.4333A>C (p.Lys1445Gln)	RIF1 (K1445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154263	NM_018151.5(RIF1):c.4360A>T (p.Ser1454Cys)	RIF1 (S1454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314311	NM_018151.5(RIF1):c.4367T>C (p.Leu1456Ser)	RIF1 (L1456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328515	NM_018151.5(RIF1):c.4376A>G (p.Lys1459Arg)	RIF1 (K1459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406596	NM_018151.5(RIF1):c.4459G>A (p.Glu1487Lys)	RIF1 (E1487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791151	NM_018151.5(RIF1):c.4467T>C (p.Thr1489=)	RIF1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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