Related gene-specific medical variations for Gene (Select 140883) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3475025	NM_080764.4(ZNF280B):c.509G>T (p.Arg170Leu)	IGL, ZNF280B (R170L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475024	NM_080764.4(ZNF280B):c.1532A>G (p.Gln511Arg)	IGL, ZNF280B (Q511R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475023	NM_080764.4(ZNF280B):c.455T>C (p.Leu152Ser)	IGL, ZNF280B (L152S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475021	NM_080764.4(ZNF280B):c.145G>A (p.Val49Met)	IGL, ZNF280B (V49M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475020	NM_080764.4(ZNF280B):c.955G>C (p.Val319Leu)	IGL, ZNF280B (V319L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475019	NM_080764.4(ZNF280B):c.18G>C (p.Glu6Asp)	IGL, ZNF280B (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3475018	NM_080764.4(ZNF280B):c.386G>A (p.Ser129Asn)	IGL, ZNF280B (S129N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3335355	NM_080764.4(ZNF280B):c.1086C>T (p.Ile362=)	IGL, ZNF280B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3335354	NM_080764.4(ZNF280B):c.648T>A (p.Ser216Arg)	IGL, ZNF280B (S216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3335353	NM_080764.4(ZNF280B):c.500A>G (p.Glu167Gly)	IGL, ZNF280B (E167G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194865	NM_080764.4(ZNF280B):c.68T>C (p.Val23Ala)	IGL, ZNF280B (V23A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194864	NM_080764.4(ZNF280B):c.310G>T (p.Ala104Ser)	IGL, ZNF280B (A104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194863	NM_080764.4(ZNF280B):c.1345T>A (p.Cys449Ser)	IGL, ZNF280B (C449S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194862	NM_080764.4(ZNF280B):c.110A>G (p.His37Arg)	IGL, ZNF280B (H37R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194861	NM_080764.4(ZNF280B):c.1031C>G (p.Thr344Ser)	IGL, ZNF280B (T344S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628004	NM_080764.4(ZNF280B):c.937G>A (p.Val313Met)	IGL, ZNF280B (V313M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2557319	NM_080764.4(ZNF280B):c.290A>G (p.Glu97Gly)	IGL, ZNF280B (E97G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535607	NM_080764.4(ZNF280B):c.406A>G (p.Asn136Asp)	IGL, ZNF280B (N136D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518718	NM_080764.4(ZNF280B):c.1021A>G (p.Asn341Asp)	IGL, ZNF280B (N341D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462514	NM_080764.4(ZNF280B):c.888A>T (p.Glu296Asp)	IGL, ZNF280B (E296D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2412018	NM_080764.4(ZNF280B):c.535G>A (p.Glu179Lys)	IGL, ZNF280B (E179K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410594	NM_080764.4(ZNF280B):c.1192C>A (p.Pro398Thr)	IGL, ZNF280B (P398T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397943	NM_080764.4(ZNF280B):c.440C>T (p.Thr147Ile)	IGL, ZNF280B (T147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381056	NM_080764.4(ZNF280B):c.1396C>T (p.Arg466Trp)	IGL, ZNF280B (R466W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372282	NM_080764.4(ZNF280B):c.1564G>C (p.Val522Leu)	IGL, ZNF280B (V522L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345340	NM_080764.4(ZNF280B):c.533T>C (p.Phe178Ser)	IGL, ZNF280B (F178S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2331279	NM_080764.4(ZNF280B):c.1333A>G (p.Thr445Ala)	IGL, ZNF280B (T445A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267468	NM_080764.4(ZNF280B):c.754A>G (p.Asn252Asp)	IGL, ZNF280B (N252D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258333	NM_080764.4(ZNF280B):c.470G>A (p.Ser157Asn)	IGL, ZNF280B (S157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242458	NM_080764.4(ZNF280B):c.706C>T (p.Pro236Ser)	IGL, ZNF280B (P236S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 30