ANKRD49[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +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 1203262	NC_000011.10:g.94494042T>C	ANKRD49, MRE11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2298995	NM_017704.3(ANKRD49):c.20A>G (p.Asn7Ser)	ANKRD49, MRE11 (N7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380501	NM_017704.3(ANKRD49):c.136G>A (p.Val46Ile)	ANKRD49, MRE11 (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126853	NM_017704.3(ANKRD49):c.255T>A (p.Asn85Lys)	ANKRD49, MRE11 (N85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403103	NC_000011.10:g.94498091C>G	ANKRD49, MRE11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2310121	NM_017704.3(ANKRD49):c.291G>C (p.Lys97Asn)	ANKRD49, MRE11 (K97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126854	NM_017704.3(ANKRD49):c.460A>G (p.Thr154Ala)	ANKRD49, MRE11 (T154A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063184	GRCh37/hg19 11q21(chr11:94130773-94280193)x1	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685418	GRCh37/hg19 11q21(chr11:94130774-94676552)x1	AMOTL1, ANKRD49 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2582900	GRCh37/hg19 11q21(chr11:94126651-94331081)x1	ANKRD49, FUT4 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527664	GRCh37/hg19 11q21(chr11:94130773-94283185)	ANKRD49, FUT4 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527663	GRCh37/hg19 11q21(chr11:93975926-94529037)	AMOTL1, ANKRD49 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686079	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	ANKRD49, FUT4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 563856	GRCh37/hg19 11q21(chr11:93975926-94626160)x3	PIWIL4, GPR83 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563844	GRCh37/hg19 11q21(chr11:93934796-94301509)x3	MRE11, PIWIL4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563820	GRCh37/hg19 11q21(chr11:94130773-94283185)x1	GPR83, ANKRD49 +2 more	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 35