"Ambry Genetics"[submitter] AND "ANKHD1-EIF4EBP3"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2360672	NM_017747.3(ANKHD1):c.518G>A (p.Arg173Gln)	ANKHD1, ANKHD1-EIF4EBP3 (R173Q +1 more)	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 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 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 2224875	NM_017747.3(ANKHD1):c.4663C>T (p.Pro1555Ser)	ANKHD1, ANKHD1-EIF4EBP3 (P1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322571	NM_017747.3(ANKHD1):c.6791A>G (p.Asp2264Gly)	ANKHD1, ANKHD1-EIF4EBP3 (D2264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2382638	NM_020690.6(ANKHD1-EIF4EBP3):c.7583C>T (p.Pro2528Leu)	ANKHD1-EIF4EBP3 (P2528L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121032	NM_020690.6(ANKHD1-EIF4EBP3):c.7618C>A (p.Pro2540Thr)	ANKHD1-EIF4EBP3 (P2540T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344474	NM_020690.6(ANKHD1-EIF4EBP3):c.7618C>G (p.Pro2540Ala)	ANKHD1-EIF4EBP3 (P2540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121034	NM_020690.6(ANKHD1-EIF4EBP3):c.7636A>G (p.Lys2546Glu)	ANKHD1-EIF4EBP3 (K2546E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220182	NM_020690.6(ANKHD1-EIF4EBP3):c.7651C>T (p.Arg2551Trp)	ANKHD1-EIF4EBP3 (R2551W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388992	NM_003732.3(EIF4EBP3):c.64A>C (p.Thr22Pro)	ANKHD1-EIF4EBP3, EIF4EBP3 (T22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121044	NM_003732.3(EIF4EBP3):c.105C>A (p.Gly35=)	ANKHD1-EIF4EBP3, EIF4EBP3 (H2561N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121049	NM_003732.3(EIF4EBP3):c.124C>T (p.Arg42Ter)	ANKHD1-EIF4EBP3, EIF4EBP3 (P2567L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242250	NM_003732.3(EIF4EBP3):c.125G>A (p.Arg42Gln)	ANKHD1-EIF4EBP3, EIF4EBP3 (R42Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2476991	NM_003732.3(EIF4EBP3):c.126A>C (p.Arg42=)	ANKHD1-EIF4EBP3, EIF4EBP3 (K2568Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224332	NM_003732.3(EIF4EBP3):c.195C>T (p.Pro65=)	ANKHD1-EIF4EBP3, EIF4EBP3 (R2591W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237325	NM_003732.3(EIF4EBP3):c.197G>A (p.Gly66Glu)	ANKHD1-EIF4EBP3, EIF4EBP3 (G66E)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2483070	NM_003732.3(EIF4EBP3):c.224T>C (p.Leu75Pro)	ANKHD1-EIF4EBP3, EIF4EBP3 (L75P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2354989	NM_003732.3(EIF4EBP3):c.251A>T (p.Gln84Leu)	ANKHD1-EIF4EBP3, EIF4EBP3 (Q84L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2558174	NM_003732.3(EIF4EBP3):c.255G>A (p.Glu85=)	ANKHD1-EIF4EBP3, EIF4EBP3 (D2611N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 22