AMOTL2[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	ALDH1L1, ALDH1L1-AS1 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	ARMC8, ASTE1 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 2346576	NM_016201.4(AMOTL2):c.2213C>T (p.Thr738Ile)	AMOTL2 (T738I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296400	NM_016201.4(AMOTL2):c.2204C>A (p.Pro735Gln)	AMOTL2 (P734Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522687	NM_016201.4(AMOTL2):c.2141C>G (p.Ala714Gly)	AMOTL2 (A713G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290136	NM_016201.4(AMOTL2):c.2110A>G (p.Arg704Gly)	AMOTL2 (R703G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472435	NM_016201.4(AMOTL2):c.1951A>G (p.Arg651Gly)	AMOTL2 (R649G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318986	NM_016201.4(AMOTL2):c.1835A>G (p.Asn612Ser)	AMOTL2 (N670S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455286	NM_016201.4(AMOTL2):c.1812G>C (p.Gln604His)	AMOTL2 (Q602H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370423	NM_016201.4(AMOTL2):c.1803T>G (p.His601Gln)	AMOTL2 (H659Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377490	NM_016201.4(AMOTL2):c.1780C>T (p.Arg594Cys)	AMOTL2 (R592C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299393	NM_016201.4(AMOTL2):c.1765A>G (p.Thr589Ala)	AMOTL2 (T589A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514517	NM_016201.4(AMOTL2):c.1730G>A (p.Arg577His)	AMOTL2 (R577H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2654163	NM_016201.4(AMOTL2):c.1663_1665del (p.Lys555del)	AMOTL2 (K553del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2204453	NM_016201.4(AMOTL2):c.1658G>A (p.Arg553Gln)	AMOTL2 (R551Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210360	NM_016201.4(AMOTL2):c.1640G>A (p.Arg547Gln)	AMOTL2 (R547Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515036	NM_016201.4(AMOTL2):c.1637T>C (p.Leu546Pro)	AMOTL2 (L604P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209678	NM_016201.4(AMOTL2):c.1633G>T (p.Ala545Ser)	AMOTL2 (A603S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767936	NM_016201.4(AMOTL2):c.1559C>T (p.Ala520Val)	AMOTL2, LOC123038187 (A520V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2398808	NM_016201.4(AMOTL2):c.1475C>T (p.Ala492Val)	AMOTL2, LOC123038187 (A550V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300011	NM_016201.4(AMOTL2):c.1417G>C (p.Glu473Gln)	AMOTL2 (E473Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319289	NM_016201.4(AMOTL2):c.1414G>T (p.Ala472Ser)	AMOTL2 (A530S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299528	NM_016201.4(AMOTL2):c.1412G>A (p.Arg471Gln)	AMOTL2 (R471Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365040	NM_016201.4(AMOTL2):c.1403G>A (p.Arg468Gln)	AMOTL2 (R468Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377666	NM_016201.4(AMOTL2):c.1366G>A (p.Glu456Lys)	AMOTL2 (E514K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789715	NM_016201.4(AMOTL2):c.1362T>C (p.Arg454=)	AMOTL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513640	NM_016201.4(AMOTL2):c.1345G>A (p.Glu449Lys)	AMOTL2 (E449K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254491	NM_016201.4(AMOTL2):c.1316G>A (p.Arg439Gln)	AMOTL2 (R497Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247654	NM_016201.4(AMOTL2):c.1303G>A (p.Glu435Lys)	AMOTL2 (E435K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226753	NM_016201.4(AMOTL2):c.1301A>T (p.Gln434Leu)	AMOTL2 (Q434L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615588	NM_016201.4(AMOTL2):c.1258G>A (p.Val420Met)	AMOTL2 (V420M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570145	NM_016201.4(AMOTL2):c.1185A>C (p.Arg395Ser)	AMOTL2 (R395S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536274	NM_016201.4(AMOTL2):c.1133A>C (p.Asn378Thr)	AMOTL2 (N378T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328545	NM_016201.4(AMOTL2):c.1122G>T (p.Lys374Asn)	AMOTL2 (K432N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272424	NM_016201.4(AMOTL2):c.1106G>A (p.Arg369His)	AMOTL2 (R369H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252233	NM_016201.4(AMOTL2):c.1061G>A (p.Arg354Gln)	AMOTL2 (R412Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401673	NM_016201.4(AMOTL2):c.1031G>A (p.Arg344His)	AMOTL2 (R402H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263661	NM_016201.4(AMOTL2):c.988C>T (p.Arg330Trp)	AMOTL2 (R330W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404018	NM_016201.4(AMOTL2):c.983A>G (p.Asn328Ser)	AMOTL2 (N386S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366480	NM_016201.4(AMOTL2):c.949G>A (p.Val317Met)	AMOTL2 (V317M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247989	NM_016201.4(AMOTL2):c.860C>A (p.Ser287Tyr)	AMOTL2 (S345Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247988	NM_016201.4(AMOTL2):c.859T>A (p.Ser287Thr)	AMOTL2 (S287T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223060	NM_016201.4(AMOTL2):c.851C>T (p.Pro284Leu)	AMOTL2 (P284L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370478	NM_016201.4(AMOTL2):c.841G>A (p.Gly281Ser)	AMOTL2 (G339S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2394440	NM_016201.4(AMOTL2):c.688C>T (p.Arg230Trp)	AMOTL2 (R230W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218771	NM_016201.4(AMOTL2):c.625C>A (p.Pro209Thr)	AMOTL2 (P267T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381603	NM_016201.4(AMOTL2):c.565C>T (p.Arg189Cys)	AMOTL2 (R189C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490754	NM_016201.4(AMOTL2):c.559C>A (p.Leu187Met)	AMOTL2 (L187M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340838	NM_016201.4(AMOTL2):c.521C>T (p.Ala174Val)	AMOTL2 (A232V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773449	NM_016201.4(AMOTL2):c.518G>A (p.Arg173Gln)	AMOTL2 (R231Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2310155	NM_016201.4(AMOTL2):c.482G>A (p.Arg161Gln)	AMOTL2 (R161Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360784	NM_016201.4(AMOTL2):c.388G>T (p.Asp130Tyr)	AMOTL2 (D130Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319479	NM_016201.4(AMOTL2):c.374G>A (p.Arg125Gln)	AMOTL2 (R183Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238306	NM_016201.4(AMOTL2):c.353C>G (p.Ala118Gly)	AMOTL2 (A176G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516206	NM_016201.4(AMOTL2):c.242G>T (p.Gly81Val)	AMOTL2 (G139V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535261	NM_016201.4(AMOTL2):c.82A>T (p.Thr28Ser)	AMOTL2 (T28S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388473	NM_016201.4(AMOTL2):c.23C>T (p.Ser8Leu)	AMOTL2 (S8L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1708468	GRCh37/hg19 3q22.2(chr3:133998370-134678040)x1	ANAPC13, EPHB1 +3 more	Copy number loss	See cases	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 71