Related gene-specific medical variations for Gene (Select 140612) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2621872	NM_020828.2(ZFP28):c.1018G>A (p.Asp340Asn)	ZFP28, ZNF470-DT (D340N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519698	NM_020828.2(ZFP28):c.1936G>A (p.Glu646Lys)	LOC126862943, ZFP28 +1 more (E646K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467228	NM_020828.2(ZFP28):c.1493A>G (p.Tyr498Cys)	LOC126862943, ZFP28 +1 more (Y498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398999	NM_020828.2(ZFP28):c.724C>T (p.Arg242Cys)	ZFP28, ZNF470-DT (R242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392906	NM_020828.2(ZFP28):c.2228C>T (p.Ser743Phe)	LOC126862943, ZFP28 +1 more (S743F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389147	NM_020828.2(ZFP28):c.1430A>G (p.Glu477Gly)	ZFP28, ZNF470-DT (E477G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376536	NM_020828.2(ZFP28):c.1100C>T (p.Thr367Ile)	ZFP28, ZNF470-DT (T367I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354113	NM_020828.2(ZFP28):c.487A>T (p.Thr163Ser)	LOC126862942, ZFP28 +1 more (T163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350499	NM_020828.2(ZFP28):c.914A>T (p.His305Leu)	ZNF470-DT, ZFP28 (H305L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343480	NM_020828.2(ZFP28):c.577G>A (p.Glu193Lys)	ZFP28, ZNF470-DT (E193K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333467	NM_020828.2(ZFP28):c.2267C>G (p.Pro756Arg)	ZFP28, ZNF470-DT +1 more (P756R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333062	NM_020828.2(ZFP28):c.917A>G (p.Glu306Gly)	ZNF470-DT, ZFP28 (E306G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321352	NM_020828.2(ZFP28):c.1013A>G (p.Asn338Ser)	ZFP28, ZNF470-DT (N338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314590	NM_020828.2(ZFP28):c.611G>C (p.Arg204Thr)	ZFP28, ZNF470-DT (R204T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296788	NM_020828.2(ZFP28):c.1669G>A (p.Gly557Arg)	LOC126862943, ZFP28 +1 more (G557R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247643	NM_020828.2(ZFP28):c.660T>G (p.Asp220Glu)	ZFP28, ZNF470-DT (D220E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238781	NM_020828.2(ZFP28):c.1840G>A (p.Glu614Lys)	LOC126862943, ZFP28 +1 more (E614K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234521	NM_020828.2(ZFP28):c.1693G>A (p.Val565Ile)	LOC126862943, ZFP28 +1 more (V565I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232218	NM_020828.2(ZFP28):c.1028A>C (p.Tyr343Ser)	ZFP28, ZNF470-DT (Y343S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214112	NM_020828.2(ZFP28):c.2112G>C (p.Met704Ile)	LOC126862943, ZFP28 +1 more (M704I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2214111	NM_020828.2(ZFP28):c.1162T>G (p.Ser388Ala)	ZFP28, ZNF470-DT (S388A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 21