CKAP4[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	FERRY3, FGD4 +4837 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56