CKAP4[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 59439	GRCh38/hg38 12q23.3(chr12:104550262-106565399)x1	ALDH1L2, APPL2 +66 more	Copy number loss	See cases	GUncertain significance
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 774901	NM_006825.4(CKAP4):c.1738T>G (p.Leu580Val)	CKAP4 (L580V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2304853	NM_006825.4(CKAP4):c.1700T>G (p.Ile567Arg)	CKAP4 (I567R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538138	NM_006825.4(CKAP4):c.1699A>C (p.Ile567Leu)	CKAP4 (I567L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267469	NM_006825.4(CKAP4):c.1601C>A (p.Ser534Tyr)	CKAP4 (S534Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145219	NM_006825.4(CKAP4):c.1579C>A (p.Gln527Lys)	CKAP4 (Q527K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145218	NM_006825.4(CKAP4):c.1535C>T (p.Thr512Met)	CKAP4 (T512M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715809	NM_006825.4(CKAP4):c.1449C>T (p.Tyr483=)	CKAP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2520419	NM_006825.4(CKAP4):c.1433C>T (p.Thr478Ile)	CKAP4 (T478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145216	NM_006825.4(CKAP4):c.1360C>T (p.Arg454Cys)	CKAP4 (R454C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268391	NM_006825.4(CKAP4):c.1340G>A (p.Arg447His)	CKAP4 (R447H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715655	NM_006825.4(CKAP4):c.1332C>T (p.His444=)	CKAP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2549263	NM_006825.4(CKAP4):c.1256G>C (p.Gly419Ala)	CKAP4 (G419A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383355	NM_006825.4(CKAP4):c.1246G>A (p.Val416Met)	CKAP4 (V416M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224340	NM_006825.4(CKAP4):c.1181G>A (p.Arg394Lys)	CKAP4 (R394K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145213	NM_006825.4(CKAP4):c.1156G>A (p.Gly386Arg)	CKAP4 (G386R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352959	NM_006825.4(CKAP4):c.1132C>T (p.Arg378Cys)	CKAP4 (R378C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549932	NM_006825.4(CKAP4):c.1109T>G (p.Ile370Ser)	CKAP4 (I370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589739	NM_006825.4(CKAP4):c.1094G>A (p.Arg365His)	CKAP4 (R365H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275003	NM_006825.4(CKAP4):c.1088T>C (p.Val363Ala)	CKAP4 (V363A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460431	NM_006825.4(CKAP4):c.1076C>G (p.Ser359Cys)	CKAP4 (S359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538878	NM_006825.4(CKAP4):c.1058C>T (p.Thr353Met)	CKAP4 (T353M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225097	NM_006825.4(CKAP4):c.1031C>T (p.Thr344Met)	CKAP4 (T344M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270054	NM_006825.4(CKAP4):c.1019A>G (p.Glu340Gly)	CKAP4 (E340G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267470	NM_006825.4(CKAP4):c.950T>C (p.Met317Thr)	CKAP4 (M317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527130	NM_006825.4(CKAP4):c.919A>G (p.Met307Val)	CKAP4 (M307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311384	NM_006825.4(CKAP4):c.883G>C (p.Glu295Gln)	CKAP4 (E295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145225	NM_006825.4(CKAP4):c.784A>G (p.Ser262Gly)	CKAP4 (S262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466918	NM_006825.4(CKAP4):c.737A>G (p.Lys246Arg)	CKAP4 (K246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735481	NM_006825.4(CKAP4):c.708G>A (p.Thr236=)	CKAP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2347634	NM_006825.4(CKAP4):c.692C>T (p.Thr231Met)	CKAP4 (T231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537262	NM_006825.4(CKAP4):c.595C>T (p.Arg199Trp)	CKAP4 (R199W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145224	NM_006825.4(CKAP4):c.585T>A (p.Ser195Arg)	CKAP4 (S195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145223	NM_006825.4(CKAP4):c.581A>G (p.Glu194Gly)	CKAP4 (E194G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145222	NM_006825.4(CKAP4):c.503C>T (p.Thr168Ile)	CKAP4 (T168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145221	NM_006825.4(CKAP4):c.500C>G (p.Ala167Gly)	CKAP4 (A167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246621	NM_006825.4(CKAP4):c.410T>A (p.Val137Asp)	CKAP4 (V137D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267472	NM_006825.4(CKAP4):c.389T>A (p.Val130Asp)	CKAP4 (V130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145220	NM_006825.4(CKAP4):c.250T>G (p.Ser84Ala)	CKAP4 (S84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594707	NM_006825.4(CKAP4):c.248C>T (p.Ser83Phe)	CKAP4 (S83F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524647	NM_006825.4(CKAP4):c.151C>T (p.Pro51Ser)	CKAP4 (P51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145217	NM_006825.4(CKAP4):c.146C>A (p.Pro49Gln)	CKAP4 (P49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145214	NM_006825.4(CKAP4):c.131C>T (p.Pro44Leu)	CKAP4 (P44L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359188	NM_006825.4(CKAP4):c.128C>A (p.Pro43Gln)	CKAP4 (P43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578697	GRCh37/hg19 12q23.3(chr12:106460580-107090224)x1	CKAP4, NUAK1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815552	GRCh37/hg19 12q23.3(chr12:106510497-107070575)x3	RFX4, POLR3B +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 56