CAPZA3[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
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 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 2350184	NM_033328.3(CAPZA3):c.13G>A (p.Val5Met)	CAPZA3 (V5M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137266	NM_033328.3(CAPZA3):c.21C>A (p.Ser7Arg)	CAPZA3 (S7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509450	NM_033328.3(CAPZA3):c.89C>G (p.Ala30Gly)	CAPZA3 (A30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263280	NM_033328.3(CAPZA3):c.148T>C (p.Cys50Arg)	CAPZA3 (C50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382021	NM_033328.3(CAPZA3):c.238G>A (p.Asp80Asn)	CAPZA3 (D80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381195	NM_033328.3(CAPZA3):c.256C>G (p.His86Asp)	CAPZA3 (H86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216428	NM_033328.3(CAPZA3):c.368G>A (p.Cys123Tyr)	CAPZA3 (C123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137267	NM_033328.3(CAPZA3):c.370G>A (p.Ala124Thr)	CAPZA3 (A124T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263281	NM_033328.3(CAPZA3):c.475A>C (p.Asn159His)	CAPZA3 (N159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263283	NM_033328.3(CAPZA3):c.482A>T (p.Glu161Val)	CAPZA3 (E161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294696	NM_033328.3(CAPZA3):c.485C>A (p.Thr162Lys)	CAPZA3 (T162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353948	NM_033328.3(CAPZA3):c.608T>C (p.Ile203Thr)	CAPZA3 (I203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529077	NM_033328.3(CAPZA3):c.668T>G (p.Leu223Arg)	CAPZA3 (L223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336038	NM_033328.3(CAPZA3):c.676G>T (p.Ala226Ser)	CAPZA3 (A226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302225	NM_033328.3(CAPZA3):c.685G>A (p.Val229Met)	CAPZA3 (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592185	NM_033328.3(CAPZA3):c.719T>C (p.Val240Ala)	CAPZA3 (V240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368135	NM_033328.3(CAPZA3):c.770G>A (p.Arg257Gln)	CAPZA3 (R257Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588627	NM_033328.3(CAPZA3):c.774G>C (p.Arg258Ser)	CAPZA3 (R258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137268	NM_033328.3(CAPZA3):c.791G>T (p.Arg264Leu)	CAPZA3 (R264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352341	NM_033328.3(CAPZA3):c.793A>G (p.Thr265Ala)	CAPZA3 (T265A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496072	NM_033328.3(CAPZA3):c.797T>C (p.Leu266Pro)	CAPZA3 (L266P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 443273	GRCh37/hg19 12p12.3(chr12:18206063-18999604)x3	CAPZA3, PIK3C2G +2 more	Copy number gain	See cases	GUncertain significance
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
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 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395235	GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3	ABCC9, AEBP2 +35 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
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 55