ClinVar for Gene (Select 124930) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296390	NM_152345.5(ANKRD13B):c.206C>T (p.Ala69Val)	ANKRD13B (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296385	NM_152345.5(ANKRD13B):c.905G>T (p.Gly302Val)	ANKRD13B (G302V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296379	NM_152345.5(ANKRD13B):c.602G>A (p.Arg201His)	ANKRD13B (R201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296369	NM_152345.5(ANKRD13B):c.888C>G (p.His296Gln)	ANKRD13B (H296Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123087	NM_152345.5(ANKRD13B):c.730G>C (p.Asp244His)	ANKRD13B (D244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123074	NM_152345.5(ANKRD13B):c.5T>A (p.Ile2Asn)	ANKRD13B (I2N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123060	NM_152345.5(ANKRD13B):c.341C>T (p.Ala114Val)	ANKRD13B (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123058	NM_152345.5(ANKRD13B):c.194G>A (p.Arg65His)	ANKRD13B (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123051	NM_152345.5(ANKRD13B):c.1817G>A (p.Arg606Gln)	ANKRD13B (R606Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123022	NM_152345.5(ANKRD13B):c.1378G>A (p.Asp460Asn)	ANKRD13B (D460N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123016	NM_152345.5(ANKRD13B):c.1040A>G (p.Asn347Ser)	ANKRD13B (N347S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647617	NM_152345.5(ANKRD13B):c.1275C>T (p.His425=)	ANKRD13B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606996	NM_152345.5(ANKRD13B):c.881A>G (p.Glu294Gly)	ANKRD13B (E294G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604227	NM_152345.5(ANKRD13B):c.40G>T (p.Gly14Cys)	ANKRD13B (G14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555650	NM_152345.5(ANKRD13B):c.1685C>G (p.Ala562Gly)	ANKRD13B (A562G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550261	NM_152345.5(ANKRD13B):c.1468A>T (p.Ser490Cys)	ANKRD13B (S490C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484550	NM_152345.5(ANKRD13B):c.1796A>T (p.Gln599Leu)	ANKRD13B (Q599L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477740	NM_152345.5(ANKRD13B):c.658C>G (p.Leu220Val)	ANKRD13B (L220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464564	NM_152345.5(ANKRD13B):c.667G>A (p.Ala223Thr)	ANKRD13B (A223T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 2397538	NM_152345.5(ANKRD13B):c.1859G>A (p.Arg620Lys)	ANKRD13B (R620K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396757	NM_152345.5(ANKRD13B):c.1772G>A (p.Arg591Gln)	ANKRD13B (R591Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373891	NM_152345.5(ANKRD13B):c.236G>A (p.Arg79His)	ANKRD13B (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354937	NM_152345.5(ANKRD13B):c.76C>T (p.Arg26Cys)	ANKRD13B (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352406	NM_152345.5(ANKRD13B):c.1816C>T (p.Arg606Trp)	ANKRD13B (R606W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313268	NM_152345.5(ANKRD13B):c.1780A>G (p.Met594Val)	ANKRD13B (M594V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311180	NM_152345.5(ANKRD13B):c.1430A>G (p.Glu477Gly)	ANKRD13B (E477G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250907	NM_152345.5(ANKRD13B):c.1225C>G (p.Leu409Val)	ANKRD13B (L409V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243761	NM_152345.5(ANKRD13B):c.37G>C (p.Glu13Gln)	ANKRD13B (E13Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218913	NM_152345.5(ANKRD13B):c.1423G>A (p.Gly475Ser)	ANKRD13B (G475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205304	NM_152345.5(ANKRD13B):c.352G>A (p.Val118Met)	ANKRD13B (V118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 41