"GeneDx"[submitter] AND "CASZ1"[gene] - ClinVar

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Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 151329	GRCh38/hg38 1p36.22(chr1:10637036-10743996)x3	CASZ1, LOC110120648 +8 more	Copy number gain	See cases	GBenign
Select item 144806	GRCh38/hg38 1p36.22(chr1:10637036-10693021)x3	CASZ1, LOC110120648 +1 more	Copy number gain	See cases	GBenign
Select item 1243264	NM_001079843.3(CASZ1):c.25_30dup	CASZ1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1294667	NM_001079843.3(CASZ1):c.5213C>G (p.Pro1738Arg)	CASZ1 (P1738R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225114	NM_001079843.3(CASZ1):c.5127CGA[2] (p.Asp1711_Asp1712del)	CASZ1	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 3367732	NM_001079843.3(CASZ1):c.4828_4831dup (p.Gly1611fs)	CASZ1 (G1611fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3371094	NM_001079843.3(CASZ1):c.4425C>A (p.Tyr1475Ter)	CASZ1 (Y1475*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1264802	NM_001079843.3(CASZ1):c.4162+204G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290303	NM_001079843.3(CASZ1):c.4162+102C>T	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777881	NM_001079843.3(CASZ1):c.4137C>T (p.Pro1379=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3363914	NM_001079843.3(CASZ1):c.4054del (p.Glu1352fs)	CASZ1 (E1352fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1275923	NM_001079843.3(CASZ1):c.4021-26C>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226111	NM_001079843.3(CASZ1):c.4020+13_4020+14insG	CASZ1	Insertion (intron variant)	not provided	GBenign
Select item 1274279	NM_001079843.3(CASZ1):c.3868+86C>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177703	NM_001079843.3(CASZ1):c.3732C>T (p.Cys1244=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1247491	NM_001079843.3(CASZ1):c.3696+94C>T	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222724	NM_001079843.3(CASZ1):c.3696+94C>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342870	NM_001079843.3(CASZ1):c.3692A>T (p.Asn1231Ile)	CASZ1 (N1231I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342800	NM_001079843.3(CASZ1):c.3616C>A (p.His1206Asn)	CASZ1 (H1206N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292023	NM_001079843.3(CASZ1):c.3213T>C (p.Phe1071=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1257841	NM_001079843.3(CASZ1):c.3036-18G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289124	NM_001079843.3(CASZ1):c.3035+31G>C	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288602	NM_001079843.3(CASZ1):c.2934G>A (p.Ala978=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1246830	NM_001079843.3(CASZ1):c.2817-39dup	CASZ1	Duplication (intron variant)	not provided	GBenign
Select item 1282639	NM_001079843.3(CASZ1):c.2681-145G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242540	NM_001079843.3(CASZ1):c.2349A>G (p.Ser783=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3342389	NM_001079843.3(CASZ1):c.2233_2237del (p.Gln745fs)	CASZ1 (Q745fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3343135	NM_001079843.3(CASZ1):c.2191del (p.Ala730_Leu731insTer)	CASZ1	Deletion (nonsense)	not provided	GUncertain significance
Select item 3363868	NM_001079843.3(CASZ1):c.1850G>A (p.Cys617Tyr)	CASZ1 (C617Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343110	NM_001079843.3(CASZ1):c.1839G>T (p.Arg613Ser)	CASZ1 (R613S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342597	NM_001079843.3(CASZ1):c.1839-2A>C	CASZ1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1226245	NM_001079843.3(CASZ1):c.1839-19C>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275444	NM_001079843.3(CASZ1):c.1839-56dup	CASZ1	Duplication (intron variant)	not provided	GBenign
Select item 1267157	NM_001079843.3(CASZ1):c.1838+74G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277404	NM_001079843.3(CASZ1):c.1838+40G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3370106	NM_001079843.3(CASZ1):c.1745T>A (p.Ile582Asn)	CASZ1 (I582N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368076	NM_001079843.3(CASZ1):c.1589G>A (p.Ser530Asn)	CASZ1 (S530N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375576	NM_001079843.3(CASZ1):c.1529G>A (p.Arg510His)	CASZ1 (R510H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269440	NM_001079843.3(CASZ1):c.1409+167G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246569	NM_001079843.3(CASZ1):c.1341-113CAGAG[2]	CASZ1	Microsatellite (intron variant)	not provided	GBenign
Select item 1289292	NM_001079843.3(CASZ1):c.1340+210C>T	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221339	NM_001079843.3(CASZ1):c.1340+193A>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242884	NM_001079843.3(CASZ1):c.1340+114T>C	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234853	NM_001079843.3(CASZ1):c.1340+110C>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368838	NM_001079843.3(CASZ1):c.1271C>T (p.Thr424Ile)	CASZ1 (T424I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343176	NM_001079843.3(CASZ1):c.1139del (p.Gly380fs)	CASZ1 (G380fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364311	NM_001079843.3(CASZ1):c.868A>G (p.Thr290Ala)	CASZ1 (T290A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342686	NM_001079843.3(CASZ1):c.753G>C (p.Gln251His)	CASZ1 (Q251H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270082	NM_001079843.3(CASZ1):c.506-8C>T	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282664	NM_001079843.3(CASZ1):c.258A>G (p.Ala86=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231792	NM_001079843.3(CASZ1):c.147C>T (p.Asp49=)	CASZ1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3342789	NM_001079843.3(CASZ1):c.118del (p.Arg40fs)	CASZ1 (R40fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 151365	GRCh38/hg38 1p36.22(chr1:10693021-10743996)x3	CASZ1, LOC110120666 +6 more	Copy number gain	See cases	GBenign
Select item 1261021	NM_001079843.3(CASZ1):c.-23-87A>G	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260902	NM_001079843.3(CASZ1):c.-233-4663G>A	CASZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 3361879	NM_001079843.3(CASZ1):c.105C>A (p.Cys35Ter)	CASZ1 (C35*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3361261	NM_001079843.3(CASZ1):c.1834T>G (p.Cys612Gly)	CASZ1 (C612G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360760	NM_001079843.3(CASZ1):c.19G>T (p.Glu7Ter)	CASZ1 (E7*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3360024	NM_001079843.3(CASZ1):c.3722A>T (p.His1241Leu)	CASZ1 (H1241L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Items: 65