"GeneDx"[submitter] AND "CIZ1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 1293856	NM_001131016.2(CIZ1):c.2488-127G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227473	NM_001131016.2(CIZ1):c.2296-308T>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293866	NM_001131016.2(CIZ1):c.2295+263G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291943	NM_001131016.2(CIZ1):c.2145+99G>T	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289226	NM_001131016.2(CIZ1):c.2031+17G>A	CIZ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1290483	NM_001131016.2(CIZ1):c.1944-12_1944-11del	CIZ1	Deletion (intron variant)	Dystonic disorder +1 more	GBenign
Select item 1166340	NM_001131016.2(CIZ1):c.1912G>A (p.Val638Met)	CIZ1 (V537M +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GBenign
Select item 1179889	NM_001131016.2(CIZ1):c.1818+138T>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267928	NM_001131016.2(CIZ1):c.1818+20G>A	CIZ1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 413839	NM_001131016.2(CIZ1):c.1733C>T (p.Ser578Phe)	CIZ1 (S578F +5 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GBenign
Select item 1272411	NM_001131016.2(CIZ1):c.1621-24G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183108	NM_001131016.2(CIZ1):c.1621-79C>T	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269687	NM_001131016.2(CIZ1):c.1499-53G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413831	NM_001131016.2(CIZ1):c.1227C>A (p.Pro409=)	CIZ1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 413836	NM_001131016.2(CIZ1):c.1035G>A (p.Ala345=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign
Select item 1262246	NM_001131016.2(CIZ1):c.792-47G>C	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227311	NM_001131016.2(CIZ1):c.792-241A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178122	NM_001131016.2(CIZ1):c.791+282A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243457	NM_001131016.2(CIZ1):c.791+253G>A	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413840	NM_001131016.2(CIZ1):c.683-7A>G	CIZ1	Single nucleotide variant (intron variant)	Dystonic disorder +1 more	GBenign
Select item 1293855	NM_001131016.2(CIZ1):c.682+84_682+96dup	CIZ1	Duplication (intron variant)	not provided	GBenign
Select item 1182399	NM_001131016.2(CIZ1):c.682+28A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413834	NM_001131016.2(CIZ1):c.655G>A (p.Ala219Thr)	CIZ1 (A219T +4 more)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GBenign
Select item 1269295	NM_001131016.2(CIZ1):c.588+193A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 413833	NM_001131016.2(CIZ1):c.396C>T (p.Leu132=)	CIZ1	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GBenign
Select item 1283166	NM_001131016.2(CIZ1):c.359-257A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248156	NM_001131016.2(CIZ1):c.286+200A>G	CIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272244	NM_012127.3(CIZ1):c.-5-1505dup	CIZ1	Duplication (intron variant)	not provided	GBenign
Select item 1182484	NC_000009.12:g.128203260A>G	CIZ1, DNM1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384396	NM_004408.4(DNM1):c.-35C>T	CIZ1, DNM1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385211	NM_004408.4(DNM1):c.-33G>A	LOC130002696, CIZ1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512176	NM_004408.4(DNM1):c.-27T>G	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384406	NM_004408.4(DNM1):c.-17C>A	DNM1, CIZ1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 384606	NM_004408.4(DNM1):c.-15G>T	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 515167	NM_004408.4(DNM1):c.-13G>A	CIZ1, DNM1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 476066	NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)	CIZ1, DNM1 (R15Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 380950	NM_004408.4(DNM1):c.46C>A (p.Leu16Met)	CIZ1, DNM1 (L16M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 429467	NM_004408.4(DNM1):c.55G>T (p.Ala19Ser)	CIZ1, DNM1 (A19S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430561	NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)	DNM1, CIZ1 (G38S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31A +1 more	GConflicting classifications of pathogenicity
Select item 391413	NM_004408.4(DNM1):c.117C>T (p.Gly39=)	CIZ1, DNM1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 430565	NM_004408.4(DNM1):c.132G>T (p.Lys44Asn)	CIZ1, DNM1 (K44N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	CIZ1, DNM1 (V47M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31A +7 more	GPathogenic/Likely pathogenic
Select item 677619	NM_004408.4(DNM1):c.161+164G>C	CIZ1, DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197753	NM_004408.4(DNM1):c.161+308C>T	CIZ1, DNM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 48