AMOTL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	GAB2, GPR83 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	KDM4D, KDM4E +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	SNORA32, SNORA40 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3861557	NM_130847.3(AMOTL1):c.20G>A (p.Arg7His)	AMOTL1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536344	NM_130847.3(AMOTL1):c.38C>T (p.Pro13Leu)	AMOTL1 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116255	NM_130847.3(AMOTL1):c.164C>T (p.Thr55Met)	AMOTL1 (T55M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402897	NM_130847.3(AMOTL1):c.164C>A (p.Thr55Lys)	AMOTL1 (T55K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3600592	NM_130847.3(AMOTL1):c.199+2T>C	AMOTL1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2304460	NM_130847.3(AMOTL1):c.265G>A (p.Gly89Ser)	AMOTL1 (G89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536237	NM_130847.3(AMOTL1):c.277G>T (p.Ala93Ser)	AMOTL1 (A43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217009	NM_130847.3(AMOTL1):c.278C>G (p.Ala93Gly)	AMOTL1 (A93G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542045	NM_130847.3(AMOTL1):c.290C>T (p.Thr97Ile)	AMOTL1 (T47I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249378	NM_130847.3(AMOTL1):c.323G>A (p.Arg108Gln)	AMOTL1 (R108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321305	NM_130847.3(AMOTL1):c.337A>G (p.Thr113Ala)	AMOTL1 (T113A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312942	NM_130847.3(AMOTL1):c.340G>A (p.Glu114Lys)	AMOTL1 (E64K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263774	NM_130847.3(AMOTL1):c.383G>A (p.Ser128Asn)	AMOTL1 (S128N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3897540	NM_130847.3(AMOTL1):c.428A>G (p.Asn143Ser)	AMOTL1 (N143S +1 more)	Single nucleotide variant (missense variant)	CRANIOFACIOCARDIOHEPATIC SYNDROME	GPathogenic
Select item 2750552	NM_130847.3(AMOTL1):c.469C>T (p.Arg157Cys)	AMOTL1 (R107C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3897539	NM_130847.3(AMOTL1):c.470G>A (p.Arg157His)	AMOTL1 (R157H +1 more)	Single nucleotide variant (missense variant)	CRANIOFACIOCARDIOHEPATIC SYNDROME	GPathogenic
Select item 2442704	NM_130847.3(AMOTL1):c.470G>T (p.Arg157Leu)	AMOTL1 (R107L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929484	NM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)	AMOTL1 (P110L +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 3234149	NM_130847.3(AMOTL1):c.519G>A (p.Glu173=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527638	NM_130847.3(AMOTL1):c.601T>C (p.Phe201Leu)	AMOTL1 (F151L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116366	NM_130847.3(AMOTL1):c.617A>G (p.Gln206Arg)	AMOTL1 (Q156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229181	NM_130847.3(AMOTL1):c.640G>A (p.Val214Met)	AMOTL1 (V164M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293182	NM_130847.3(AMOTL1):c.713G>A (p.Arg238His)	AMOTL1 (R238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726884	NM_130847.3(AMOTL1):c.714T>C (p.Arg238=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2330498	NM_130847.3(AMOTL1):c.731C>A (p.Ala244Glu)	AMOTL1 (A244E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250677	NM_130847.3(AMOTL1):c.768C>T (p.Gly256=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726885	NM_130847.3(AMOTL1):c.840C>T (p.Pro280=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116380	NM_130847.3(AMOTL1):c.845C>T (p.Ser282Leu)	AMOTL1 (S232L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536258	NM_130847.3(AMOTL1):c.926C>T (p.Pro309Leu)	AMOTL1 (P259L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116386	NM_130847.3(AMOTL1):c.991G>A (p.Gly331Arg)	AMOTL1 (G331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382795	NM_130847.3(AMOTL1):c.1018G>A (p.Gly340Arg)	AMOTL1 (G340R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552332	NM_130847.3(AMOTL1):c.1029C>A (p.His343Gln)	AMOTL1 (H343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536276	NM_130847.3(AMOTL1):c.1034T>C (p.Met345Thr)	AMOTL1 (M295T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293193	NM_130847.3(AMOTL1):c.1042C>A (p.Pro348Thr)	AMOTL1 (P298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536285	NM_130847.3(AMOTL1):c.1088G>C (p.Arg363Pro)	AMOTL1 (R363P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269717	NM_130847.3(AMOTL1):c.1118C>T (p.Thr373Met)	AMOTL1 (T373M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116221	NM_130847.3(AMOTL1):c.1150A>G (p.Thr384Ala)	AMOTL1 (T384A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558498	NM_130847.3(AMOTL1):c.1162C>T (p.His388Tyr)	AMOTL1 (H388Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536314	NM_130847.3(AMOTL1):c.1184C>T (p.Thr395Ile)	AMOTL1 (T345I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317337	NM_130847.3(AMOTL1):c.1190C>G (p.Ser397Cys)	AMOTL1 (S347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532591	NM_130847.3(AMOTL1):c.1208A>G (p.His403Arg)	AMOTL1 (H353R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511326	NM_130847.3(AMOTL1):c.1223C>T (p.Pro408Leu)	AMOTL1 (P408L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214562	NM_130847.3(AMOTL1):c.1262C>T (p.Pro421Leu)	AMOTL1 (P371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293204	NM_130847.3(AMOTL1):c.1301C>G (p.Ala434Gly)	AMOTL1 (A384G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536227	NM_130847.3(AMOTL1):c.1399G>A (p.Asp467Asn)	AMOTL1 (D417N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536216	NM_130847.3(AMOTL1):c.1422A>C (p.Lys474Asn)	AMOTL1 (K474N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536323	NM_130847.3(AMOTL1):c.1459G>A (p.Val487Ile)	AMOTL1 (V487I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303323	NM_130847.3(AMOTL1):c.1478G>A (p.Arg493Gln)	AMOTL1 (R493Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293160	NM_130847.3(AMOTL1):c.1484C>T (p.Ser495Leu)	AMOTL1 (S445L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3861550	NM_130847.3(AMOTL1):c.1496C>G (p.Ala499Gly)	AMOTL1 (A449G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430711	NM_130847.3(AMOTL1):c.1523T>C (p.Ile508Thr)	AMOTL1 (I458T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534583	NM_130847.3(AMOTL1):c.1556G>A (p.Arg519Gln)	AMOTL1 (R519Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3370753	NM_130847.3(AMOTL1):c.1561C>T (p.Arg521Ter)	AMOTL1 (R471* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371683	NM_130847.3(AMOTL1):c.1570A>G (p.Thr524Ala)	AMOTL1 (T474A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538672	NM_130847.3(AMOTL1):c.1581G>C (p.Arg527Ser)	AMOTL1 (R527S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521981	NM_130847.3(AMOTL1):c.1592G>T (p.Ser531Ile)	AMOTL1 (S481I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216585	NM_130847.3(AMOTL1):c.1703G>A (p.Arg568Gln)	AMOTL1 (R518Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3897541	NM_130847.3(AMOTL1):c.1735G>A (p.Glu579Lys)	AMOTL1 (E579K +1 more)	Single nucleotide variant (missense variant)	CRANIOFACIOCARDIOHEPATIC SYNDROME	GPathogenic
Select item 726886	NM_130847.3(AMOTL1):c.1755G>A (p.Leu585=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3536197	NM_130847.3(AMOTL1):c.1774G>A (p.Val592Ile)	AMOTL1 (V542I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116261	NM_130847.3(AMOTL1):c.1777A>T (p.Ile593Phe)	AMOTL1 (I593F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247160	NM_130847.3(AMOTL1):c.1780A>C (p.Lys594Gln)	AMOTL1 (K544Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536333	NM_130847.3(AMOTL1):c.1787A>C (p.Glu596Ala)	AMOTL1 (E546A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116266	NM_130847.3(AMOTL1):c.1861T>G (p.Ser621Ala)	AMOTL1 (S621A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3777346	NM_130847.3(AMOTL1):c.1913A>G (p.Glu638Gly)	AMOTL1 (E588G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2375083	NM_130847.3(AMOTL1):c.1943A>G (p.Gln648Arg)	AMOTL1 (Q648R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778543	NM_130847.3(AMOTL1):c.1956T>C (p.Asn652=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3116274	NM_130847.3(AMOTL1):c.1963C>G (p.Pro655Ala)	AMOTL1 (P605A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116279	NM_130847.3(AMOTL1):c.1973T>C (p.Met658Thr)	AMOTL1 (M658T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116283	NM_130847.3(AMOTL1):c.2011C>T (p.Arg671Trp)	AMOTL1 (R621W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3861532	NM_130847.3(AMOTL1):c.2075T>C (p.Leu692Pro)	AMOTL1 (L642P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530468	NM_130847.3(AMOTL1):c.2096A>T (p.His699Leu)	AMOTL1 (H649L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491703	NM_130847.3(AMOTL1):c.2106G>T (p.Met702Ile)	AMOTL1 (M652I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3861522	NM_130847.3(AMOTL1):c.2120C>T (p.Thr707Ile)	AMOTL1 (T657I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257508	NM_130847.3(AMOTL1):c.2125G>A (p.Ala709Thr)	AMOTL1 (A659T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293171	NM_130847.3(AMOTL1):c.2161C>T (p.Arg721Trp)	AMOTL1 (R721W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531886	NM_130847.3(AMOTL1):c.2243G>T (p.Cys748Phe)	AMOTL1 (C748F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116294	NM_130847.3(AMOTL1):c.2257T>C (p.Tyr753His)	AMOTL1 (Y703H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116297	NM_130847.3(AMOTL1):c.2285T>A (p.Ile762Asn)	AMOTL1 (I762N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536269	NM_130847.3(AMOTL1):c.2310G>T (p.Lys770Asn)	AMOTL1 (K720N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3861541	NM_130847.3(AMOTL1):c.2311G>T (p.Val771Phe)	AMOTL1 (V721F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620063	NM_130847.3(AMOTL1):c.2336A>T (p.Asp779Val)	AMOTL1 (D729V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293216	NM_130847.3(AMOTL1):c.2361C>A (p.Ser787Arg)	AMOTL1 (S737R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306187	NM_130847.3(AMOTL1):c.2391A>G (p.Ile797Met)	AMOTL1 (I747M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293226	NM_130847.3(AMOTL1):c.2392G>T (p.Ala798Ser)	AMOTL1 (A798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289379	NM_130847.3(AMOTL1):c.2392G>A (p.Ala798Thr)	AMOTL1 (A748T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220260	NM_130847.3(AMOTL1):c.2411A>G (p.His804Arg)	AMOTL1 (H754R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536294	NM_130847.3(AMOTL1):c.2416C>T (p.Arg806Cys)	AMOTL1 (R756C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407215	NM_130847.3(AMOTL1):c.2417G>A (p.Arg806His)	AMOTL1 (R806H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539454	NM_130847.3(AMOTL1):c.2432C>T (p.Thr811Ile)	AMOTL1 (T761I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3861490	NM_130847.3(AMOTL1):c.2483G>A (p.Ser828Asn)	AMOTL1 (S828N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116324	NM_130847.3(AMOTL1):c.2542C>T (p.Pro848Ser)	AMOTL1 (P798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536304	NM_130847.3(AMOTL1):c.2560C>G (p.Leu854Val)	AMOTL1 (L804V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3536247	NM_130847.3(AMOTL1):c.2563T>C (p.Ser855Pro)	AMOTL1 (S805P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720475	NM_130847.3(AMOTL1):c.2583G>A (p.Thr861=)	AMOTL1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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