AMBRA1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 2629998	NM_001387011.1(AMBRA1):c.3874A>G (p.Arg1292Gly)	AMBRA1 (R1023G +6 more)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GUncertain significance
Select item 2458405	NM_001387011.1(AMBRA1):c.3854G>C (p.Arg1285Thr)	AMBRA1 (R1166T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389222	NM_001387011.1(AMBRA1):c.3821A>G (p.Asn1274Ser)	AMBRA1 (N1005S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2608803	NM_001387011.1(AMBRA1):c.3800C>A (p.Thr1267Asn)	AMBRA1 (T1177N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523012	NM_001387011.1(AMBRA1):c.3757C>T (p.Pro1253Ser)	AMBRA1 (P1074S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292343	NM_001387011.1(AMBRA1):c.3716C>T (p.Pro1239Leu)	AMBRA1 (P1120L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114868	NM_001387011.1(AMBRA1):c.3685C>T (p.Arg1229Trp)	AMBRA1 (R1050W +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589176	NM_001387011.1(AMBRA1):c.3638G>A (p.Gly1213Glu)	AMBRA1 (G1123E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214651	NM_001387011.1(AMBRA1):c.3617C>T (p.Pro1206Leu)	AMBRA1 (P1146L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331452	NM_001387011.1(AMBRA1):c.3574T>G (p.Ser1192Ala)	AMBRA1 (S923A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275458	NM_001387011.1(AMBRA1):c.3458G>A (p.Arg1153Lys)	AMBRA1 (R1093K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114852	NM_001387011.1(AMBRA1):c.3440C>T (p.Ala1147Val)	AMBRA1 (A1028V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114849	NM_001387011.1(AMBRA1):c.3404G>A (p.Gly1135Asp)	AMBRA1 (G1016D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221144	NM_001387011.1(AMBRA1):c.3286G>A (p.Ala1096Thr)	AMBRA1 (A1036T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3114845	NM_001387011.1(AMBRA1):c.3203G>A (p.Arg1068Gln)	AMBRA1 (R1071Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517107	NM_001387011.1(AMBRA1):c.3188G>C (p.Ser1063Thr)	AMBRA1 (S1066T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540529	NM_001387011.1(AMBRA1):c.3175G>A (p.Val1059Ile)	AMBRA1 (V880I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2636716	NM_001387011.1(AMBRA1):c.3164C>T (p.Thr1055Met)	AMBRA1 (T1055M +6 more)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GUncertain significance
Select item 3114832	NM_001387011.1(AMBRA1):c.3136G>A (p.Glu1046Lys)	AMBRA1 (E1046K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 869206	NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe)	AMBRA1 (S1043F +6 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defect	GUncertain significance
Select item 3114825	NM_001387011.1(AMBRA1):c.2993T>C (p.Leu998Pro)	AMBRA1 (L1001P +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385069	NM_001387011.1(AMBRA1):c.2989G>A (p.Val997Ile)	AMBRA1 (V1000I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3114816	NM_001387011.1(AMBRA1):c.2951C>T (p.Ala984Val)	AMBRA1 (A865V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 869205	NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val)	AMBRA1 (M705V +6 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defect	GUncertain significance
Select item 2308603	NM_001387011.1(AMBRA1):c.2911A>G (p.Thr971Ala)	AMBRA1 (T792A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553565	NM_001387011.1(AMBRA1):c.2854A>G (p.Met952Val)	AMBRA1 (M833V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787909	NM_001387011.1(AMBRA1):c.2781C>G (p.Ala927=)	AMBRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2545775	NM_001387011.1(AMBRA1):c.2746C>T (p.Pro916Ser)	AMBRA1 (P647S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513817	NM_001387011.1(AMBRA1):c.2638G>A (p.Val880Met)	AMBRA1 (V820M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 869204	NM_001387011.1(AMBRA1):c.2498C>T (p.Ser833Phe)	AMBRA1 (S564F +6 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defect	GUncertain significance
Select item 3114803	NM_001387011.1(AMBRA1):c.2384G>T (p.Arg795Leu)	AMBRA1 (R798L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036278	NM_001387011.1(AMBRA1):c.2345A>G (p.Asn782Ser)	AMBRA1 (N513S +6 more)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GLikely benign
Select item 3114802	NM_001387011.1(AMBRA1):c.2343C>G (p.Asp781Glu)	AMBRA1 (D691E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461051	NM_001387011.1(AMBRA1):c.2317G>A (p.Asp773Asn)	AMBRA1 (D654N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292333	NM_001387011.1(AMBRA1):c.2261G>A (p.Arg754His)	AMBRA1 (R485H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114795	NM_001387011.1(AMBRA1):c.2254C>T (p.Arg752Cys)	AMBRA1 (R483C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385444	NM_001387011.1(AMBRA1):c.2240G>A (p.Arg747His)	AMBRA1 (R478H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641748	NM_001387011.1(AMBRA1):c.2145C>A (p.Tyr715Ter)	AMBRA1 (Y446* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3292353	NM_001387011.1(AMBRA1):c.2108G>A (p.Arg703His)	AMBRA1 (R434H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3352513	NM_001387011.1(AMBRA1):c.2073-5335C>T	AMBRA1 (P694L)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GBenign
Select item 3351291	NM_001387011.1(AMBRA1):c.2073-5603G>A	AMBRA1 (A605T)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GUncertain significance
Select item 2226306	NM_001387011.1(AMBRA1):c.2051C>T (p.Ser684Phe)	AMBRA1, LOC124433255 (S415F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249602	NM_001387011.1(AMBRA1):c.2050T>A (p.Ser684Thr)	AMBRA1, LOC124433255 (S594T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225802	NM_001387011.1(AMBRA1):c.1919C>T (p.Pro640Leu)	AMBRA1, LOC124433255 (P371L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114781	NM_001387011.1(AMBRA1):c.1844A>C (p.Gln615Pro)	AMBRA1, LOC124433255 (Q525P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282062	NM_001387011.1(AMBRA1):c.1838G>A (p.Gly613Asp)	AMBRA1, LOC124433255 (G344D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477165	NM_001387011.1(AMBRA1):c.1823G>C (p.Ser608Thr)	AMBRA1, LOC124433255 (S339T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494699	NM_001387011.1(AMBRA1):c.1816T>G (p.Phe606Val)	AMBRA1, LOC124433255 (F337V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522640	NM_001387011.1(AMBRA1):c.1747C>T (p.Arg583Cys)	AMBRA1 (R314C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407162	NM_001387011.1(AMBRA1):c.1685G>A (p.Arg562His)	AMBRA1 (R472H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114761	NM_001387011.1(AMBRA1):c.1664A>C (p.Glu555Ala)	AMBRA1 (E465A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2634662	NM_001387011.1(AMBRA1):c.1654C>T (p.His552Tyr)	AMBRA1 (H283Y +2 more)	Single nucleotide variant (missense variant +1 more)	AMBRA1-related disorder	GUncertain significance
Select item 2389611	NM_001387011.1(AMBRA1):c.1573C>T (p.Pro525Ser)	AMBRA1 (P256S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779140	NM_001387011.1(AMBRA1):c.1476G>A (p.Ser492=)	AMBRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2389632	NM_001387011.1(AMBRA1):c.1471A>T (p.Asn491Tyr)	AMBRA1 (N491Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114750	NM_001387011.1(AMBRA1):c.1418C>T (p.Pro473Leu)	AMBRA1 (P204L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240350	NM_001387011.1(AMBRA1):c.1388A>T (p.Tyr463Phe)	AMBRA1 (Y373F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263064	NM_001387011.1(AMBRA1):c.1382C>T (p.Ser461Phe)	AMBRA1 (S371F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381197	NM_001387011.1(AMBRA1):c.1331C>T (p.Ser444Leu)	AMBRA1 (S175L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553334	NM_001387011.1(AMBRA1):c.1309C>T (p.Pro437Ser)	AMBRA1 (P168S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735163	NM_001387011.1(AMBRA1):c.1302C>G (p.Ser434=)	AMBRA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2237750	NM_001387011.1(AMBRA1):c.1285C>T (p.Arg429Cys)	AMBRA1 (R429C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533188	NM_001387011.1(AMBRA1):c.1181C>G (p.Ser394Cys)	AMBRA1 (S304C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292375	NM_001387011.1(AMBRA1):c.1174C>T (p.Arg392Cys)	AMBRA1 (R302C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481072	NM_001387011.1(AMBRA1):c.1151G>A (p.Arg384His)	AMBRA1 (R115H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 869203	NM_001387011.1(AMBRA1):c.1090C>T (p.Leu364Phe)	AMBRA1 (L274F +2 more)	Single nucleotide variant (missense variant +1 more)	Neural tube defect	GUncertain significance
Select item 2219448	NM_001387011.1(AMBRA1):c.1076A>G (p.Gln359Arg)	AMBRA1 (Q269R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114906	NM_001387011.1(AMBRA1):c.1072A>G (p.Thr358Ala)	AMBRA1 (T89A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2468515	NM_001387011.1(AMBRA1):c.662C>A (p.Ser221Tyr)	AMBRA1 (S221Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292323	NM_001387011.1(AMBRA1):c.502C>T (p.Arg168Trp)	AMBRA1 (R168W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285400	NM_001387011.1(AMBRA1):c.473A>G (p.Asn158Ser)	AMBRA1 (N158S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595914	NM_001387011.1(AMBRA1):c.472A>G (p.Asn158Asp)	AMBRA1 (N158D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 691340	NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val)	AMBRA1 (A144V)	Single nucleotide variant (missense variant +2 more)	Esophageal atresia +1 more	GUncertain significance
Select item 3292364	NM_001387011.1(AMBRA1):c.425C>G (p.Ser142Cys)	AMBRA1 (S142C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3346128	NM_001387011.1(AMBRA1):c.422C>T (p.Ala141Val)	AMBRA1 (A141V)	Single nucleotide variant (missense variant +2 more)	AMBRA1-related disorder	GUncertain significance
Select item 3114887	NM_001387011.1(AMBRA1):c.413A>G (p.Asn138Ser)	AMBRA1 (N138S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220299	NM_001387011.1(AMBRA1):c.284G>A (p.Arg95His)	AMBRA1 (R95H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 869202	NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met)	AMBRA1 (T80M)	Single nucleotide variant (missense variant +2 more)	Neural tube defect	GUncertain significance
Select item 2345873	NM_001387011.1(AMBRA1):c.80G>A (p.Arg27Gln)	AMBRA1 (R27Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558800	NM_001387011.1(AMBRA1):c.67A>G (p.Met23Val)	AMBRA1 (M23V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298372	NM_001387011.1(AMBRA1):c.32G>A (p.Arg11Gln)	AMBRA1 (R11Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 560080	Single allele	AMBRA1, ARHGAP1 +8 more	Deletion	not provided	GUncertain significance
Select item 2684644	GRCh37/hg19 11p11.2(chr11:46556948-46825148)x3	AMBRA1, ARHGAP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527641	GRCh37/hg19 11p11.2(chr11:46560809-46720908)	AMBRA1, ARHGAP1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527640	GRCh37/hg19 11p11.2(chr11:46248477-46748132)	AMBRA1, ARHGAP1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1448414	NC_000011.9:g.(?_46318032)_(46761066_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1042681	NC_000011.9:g.(?_46569796)_(46742390_?)dup	ZNF408, AMBRA1 +4 more	Duplication	not provided	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979918	GRCh37/hg19 11p11.2(chr11:46418839-46753136)x3	ARHGAP1, ATG13 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979917	GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3	MDK, CHRM4 +4 more	Copy number gain	not provided	GUncertain significance

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