ZBTB41[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 2639709	NM_194314.3(ZBTB41):c.2685C>T (p.Ser895=)	ZBTB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2461086	NM_194314.3(ZBTB41):c.2573A>G (p.Glu858Gly)	ZBTB41 (E377G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463816	NM_194314.3(ZBTB41):c.2476C>T (p.Arg826Cys)	ZBTB41 (R345C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639710	NM_194314.3(ZBTB41):c.2463G>A (p.Pro821=)	ZBTB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2343052	NM_194314.3(ZBTB41):c.2264C>G (p.Pro755Arg)	ZBTB41 (P274R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619480	NM_194314.3(ZBTB41):c.2247A>G (p.Ile749Met)	ZBTB41 (I749M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619272	NM_194314.3(ZBTB41):c.2203C>T (p.Arg735Trp)	ZBTB41 (R735W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528013	NM_194314.3(ZBTB41):c.1973A>G (p.Lys658Arg)	ZBTB41 (K177R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548303	NM_194314.3(ZBTB41):c.1760G>T (p.Gly587Val)	ZBTB41 (G106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192080	NM_194314.3(ZBTB41):c.1610T>G (p.Ile537Arg)	ZBTB41 (I537R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488658	NM_194314.3(ZBTB41):c.1609A>G (p.Ile537Val)	ZBTB41 (I537V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601426	NM_194314.3(ZBTB41):c.1574G>A (p.Arg525His)	ZBTB41 (R525H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494473	NM_194314.3(ZBTB41):c.1489G>A (p.Glu497Lys)	ZBTB41 (E497K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205331	NM_194314.3(ZBTB41):c.1307C>A (p.Thr436Asn)	ZBTB41 (T436N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298457	NM_194314.3(ZBTB41):c.1189C>T (p.Arg397Cys)	ZBTB41 (R397C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192079	NM_194314.3(ZBTB41):c.1174G>A (p.Asp392Asn)	ZBTB41 (D392N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367035	NM_194314.3(ZBTB41):c.1027A>C (p.Asn343His)	ZBTB41 (N343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192081	NM_194314.3(ZBTB41):c.856G>C (p.Asp286His)	ZBTB41 (D286H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541988	NM_194314.3(ZBTB41):c.833A>C (p.Asp278Ala)	ZBTB41 (D278A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597094	NM_194314.3(ZBTB41):c.707G>A (p.Gly236Glu)	ZBTB41 (G236E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394029	NM_194314.3(ZBTB41):c.637A>G (p.Ser213Gly)	ZBTB41 (S213G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354685	NM_194314.3(ZBTB41):c.617A>G (p.Asn206Ser)	ZBTB41 (N206S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374854	NM_194314.3(ZBTB41):c.593A>G (p.Glu198Gly)	ZBTB41 (E198G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377769	NM_194314.3(ZBTB41):c.560C>T (p.Thr187Ile)	ZBTB41 (T187I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596364	NM_194314.3(ZBTB41):c.559A>C (p.Thr187Pro)	ZBTB41 (T187P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256205	NM_194314.3(ZBTB41):c.391G>A (p.Val131Ile)	ZBTB41 (V131I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597881	NM_194314.3(ZBTB41):c.356A>G (p.Lys119Arg)	ZBTB41 (K119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369362	NM_194314.3(ZBTB41):c.159A>T (p.Glu53Asp)	ZBTB41 (E53D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492006	NM_194314.3(ZBTB41):c.155A>C (p.Gln52Pro)	ZBTB41 (Q52P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360479	NM_194314.3(ZBTB41):c.124A>G (p.Arg42Gly)	ZBTB41 (R42G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247738	NM_194314.3(ZBTB41):c.55C>G (p.His19Asp)	ZBTB41 (H19D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	CFHR4, CFHR5 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1446722	NC_000001.10:g.(?_196621248)_(197447009_?)dup	ASPM, CFH +8 more	Duplication	not provided	GUncertain significance
Select item 1076360	NC_000001.10:g.(?_196918585)_(197742062_?)del	DENND1B, F13B +5 more	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 830716	NC_000001.11:g.(?_197084314)_(197478465_?)del	ASPM, CRB1 +1 more	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565208	GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1	ASPM, CFH +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	ABCB10, ACBD3 +393 more	Copy number gain	See cases	GPathogenic

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Items: 54