ANKRD45[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	ANKRD45, SNORD80 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	RABGAP1L-DT, SNORD78 +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3176416	NM_001195190.3(TEX50):c.322A>C (p.Lys108Gln)	ANKRD45, TEX50 (K108Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126815	NM_198493.3(ANKRD45):c.440G>T (p.Arg147Leu)	ANKRD45 (R147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210548	NM_198493.3(ANKRD45):c.434G>A (p.Arg145Lys)	ANKRD45 (R145K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126811	NM_198493.3(ANKRD45):c.431A>G (p.Glu144Gly)	ANKRD45 (E144G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396306	NM_198493.3(ANKRD45):c.412G>A (p.Ala138Thr)	ANKRD45 (A138T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126799	NM_198493.3(ANKRD45):c.407T>C (p.Ile136Thr)	ANKRD45 (I136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478191	NM_198493.3(ANKRD45):c.367T>G (p.Leu123Val)	ANKRD45 (L123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542047	NM_198493.3(ANKRD45):c.230G>T (p.Gly77Val)	ANKRD45 (G77V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126779	NM_198493.3(ANKRD45):c.148G>A (p.Gly50Ser)	ANKRD45 (G50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403488	NM_198493.3(ANKRD45):c.148G>C (p.Gly50Arg)	ANKRD45 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126776	NM_198493.3(ANKRD45):c.112C>T (p.Pro38Ser)	ANKRD45 (P38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460242	NM_198493.3(ANKRD45):c.30G>C (p.Glu10Asp)	ANKRD45 (E10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339024	NM_198493.3(ANKRD45):c.26C>T (p.Ser9Leu)	ANKRD45 (S9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297676	NM_198493.3(ANKRD45):c.23A>G (p.Glu8Gly)	ANKRD45 (E8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1321890	NC_000001.11:g.173686375_176083118del	LOC129388640, LOC129931948 +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	GAS5, KLHL20 +22 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 50