Related gene-specific medical variations for Gene (Select 54882) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235873	NM_017747.3(ANKHD1):c.6673_6682del (p.Asn2225fs)	ANKHD1, ANKHD1-EIF4EBP3 (N2225fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3121012	NM_017747.3(ANKHD1):c.3823G>A (p.Val1275Ile)	ANKHD1, ANKHD1-EIF4EBP3 (V1275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121009	NM_017747.3(ANKHD1):c.2030A>G (p.Lys677Arg)	ANKHD1, ANKHD1-EIF4EBP3 (K677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121004	NM_017747.3(ANKHD1):c.1373T>C (p.Ile458Thr)	ANKHD1, ANKHD1-EIF4EBP3 (I458T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655738	NM_020690.6(ANKHD1-EIF4EBP3):c.1590T>C (p.Asp530=)	ANKHD1, ANKHD1-EIF4EBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578387	NM_017747.3(ANKHD1):c.5390dup (p.Thr1798fs)	ANKHD1, ANKHD1-EIF4EBP3 (T1798fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 2535098	NM_017747.3(ANKHD1):c.7591C>T (p.Pro2531Ser)	ANKHD1, ANKHD1-EIF4EBP3 (P2531S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360672	NM_020690.6(ANKHD1-EIF4EBP3):c.518G>A (p.Arg173Gln)	ANKHD1, ANKHD1-EIF4EBP3 (R173Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322571	NM_020690.6(ANKHD1-EIF4EBP3):c.6791A>G (p.Asp2264Gly)	ANKHD1, ANKHD1-EIF4EBP3 (D2264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224875	NM_020690.6(ANKHD1-EIF4EBP3):c.4663C>T (p.Pro1555Ser)	ANKHD1, ANKHD1-EIF4EBP3 (P1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1228896	NM_017747.3(ANKHD1):c.3551+277A>G	ANKHD1, ANKHD1-EIF4EBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 775225	NM_017747.3(ANKHD1):c.7156C>G (p.Pro2386Ala)	ANKHD1, ANKHD1-EIF4EBP3 (P2386A)	Single nucleotide variant (missense variant)	not provided	GBenign