"GeneDx"[submitter] AND "ZNF408"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 152826	GRCh38/hg38 11p11.2(chr11:46420955-46728372)x3	AMBRA1, ARHGAP1 +13 more	Copy number gain	See cases	GUncertain significance
Select item 1276936	NC_000011.10:g.46700671T>C	ZNF408	Single nucleotide variant	not provided	GBenign
Select item 1266469	NC_000011.10:g.46700926C>T	LOC130005659, ZNF408	Single nucleotide variant	not provided	GBenign
Select item 1178051	NC_000011.10:g.46700939G>A	LOC130005659, ZNF408	Single nucleotide variant	not provided	GBenign
Select item 1274687	NM_024741.3(ZNF408):c.52+82T>C	ZNF408	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225334	NM_024741.3(ZNF408):c.331-186G>C	ZNF408	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261759	NM_024741.3(ZNF408):c.366C>G (p.Ala122=)	ZNF408	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1311839	NM_024741.3(ZNF408):c.389C>T (p.Thr130Ile)	ZNF408 (T122I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1695654	NM_024741.3(ZNF408):c.392G>C (p.Ser131Thr)	ZNF408 (S123T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261760	NM_024741.3(ZNF408):c.581_592del (p.Val194_Val197del)	ZNF408	Deletion (inframe_deletion)	Retinal dystrophy +2 more	GBenign
Select item 392405	NM_024741.3(ZNF408):c.740A>G (p.Lys247Arg)	ZNF408 (K247R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806656	NM_024741.3(ZNF408):c.1031G>A (p.Gly344Glu)	ZNF408 (G336E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663598	NM_024741.3(ZNF408):c.1171A>G (p.Ser391Gly)	ZNF408 (S383G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939848	NM_024741.3(ZNF408):c.1342C>T (p.Arg448Cys)	ZNF408 (R440C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935712	NM_024741.3(ZNF408):c.1367G>A (p.Arg456His)	ZNF408 (R448H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453180	NM_024741.3(ZNF408):c.1471A>G (p.Thr491Ala)	ZNF408 (T491A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816964	NM_024741.3(ZNF408):c.1699C>T (p.Arg567Ter)	ZNF408 (R559* +1 more)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity