ZFP91[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic
Select item 2542485	NM_053023.5(ZFP91):c.43G>A (p.Asp15Asn)	ZFP91, ZFP91-CNTF (D15N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569585	NM_053023.5(ZFP91):c.95G>A (p.Arg32Gln)	ZFP91, ZFP91-CNTF (R32Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620105	NM_053023.5(ZFP91):c.140G>A (p.Ser47Asn)	ZFP91, ZFP91-CNTF (S47N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264584	NM_053023.5(ZFP91):c.167G>A (p.Arg56Gln)	ZFP91-CNTF, ZFP91 (R56Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319308	NM_053023.5(ZFP91):c.199G>T (p.Ala67Ser)	ZFP91, ZFP91-CNTF (A67S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407654	NM_053023.5(ZFP91):c.255C>G (p.Ser85Arg)	ZFP91-CNTF, ZFP91 (S85R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239656	NM_053023.5(ZFP91):c.286C>G (p.Pro96Ala)	ZFP91-CNTF, ZFP91 (P96A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247314	NM_053023.5(ZFP91):c.307T>G (p.Ser103Ala)	ZFP91-CNTF, ZFP91 (S103A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590576	NM_053023.5(ZFP91):c.400G>A (p.Asp134Asn)	ZFP91, ZFP91-CNTF (D134N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479764	NM_053023.5(ZFP91):c.427A>T (p.Ile143Phe)	ZFP91, ZFP91-CNTF (I143F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260391	NM_053023.5(ZFP91):c.448C>T (p.Arg150Trp)	ZFP91-CNTF, ZFP91 (R150W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365401	NM_053023.5(ZFP91):c.526G>A (p.Gly176Ser)	ZFP91, ZFP91-CNTF (G176S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486580	NM_053023.5(ZFP91):c.872G>A (p.Arg291Gln)	ZFP91, ZFP91-CNTF (R290Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522039	NM_053023.5(ZFP91):c.1333G>A (p.Val445Ile)	ZFP91, ZFP91-CNTF (V445I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301317	NM_053023.5(ZFP91):c.1402G>A (p.Ala468Thr)	ZFP91-CNTF, ZFP91 (A468T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550922	NM_053023.5(ZFP91):c.1466G>T (p.Gly489Val)	ZFP91, ZFP91-CNTF (G489V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543248	NM_053023.5(ZFP91):c.1613G>A (p.Ser538Asn)	ZFP91, ZFP91-CNTF (S538N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325615	NM_053023.5(ZFP91):c.1702G>T (p.Ala568Ser)	ZFP91, ZFP91-CNTF (A567S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 28