"Ambry Genetics"[submitter] AND "MNX1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241196	NM_005515.4(MNX1):c.1132G>A (p.Ala378Thr)	MNX1 (A166T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184258	NM_005515.4(MNX1):c.1058A>G (p.Asp353Gly)	MNX1 (D353G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1582304	NM_005515.4(MNX1):c.895A>T (p.Ser299Cys)	MNX1 (S299C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420708	NM_005515.4(MNX1):c.885A>C (p.Lys295Asn)	MNX1 (K295N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2532482	NM_005515.4(MNX1):c.678G>A (p.Met226Ile)	MNX1 (M226I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184816	NM_005515.4(MNX1):c.602T>C (p.Ile201Thr)	MNX1 (I201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532788	NM_005515.4(MNX1):c.601A>G (p.Ile201Val)	MNX1 (I201V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550883	NM_005515.4(MNX1):c.517G>C (p.Ala173Pro)	LOC129999735, MNX1 (A173P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1047679	NM_005515.4(MNX1):c.509C>G (p.Ala170Gly)	LOC129999735, MNX1 (A170G)	Single nucleotide variant (missense variant)	Currarino triad +2 more	GUncertain significance
Select item 1415319	NM_005515.4(MNX1):c.445G>A (p.Gly149Ser)	LOC129999736, MNX1 (G149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2389678	NM_005515.4(MNX1):c.436G>C (p.Ala146Pro)	LOC129999736, MNX1 (A146P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2957963	NM_005515.4(MNX1):c.371C>A (p.Ala124Asp)	MNX1 (A124D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2286592	NM_005515.4(MNX1):c.352C>T (p.His118Tyr)	MNX1 (H118Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323157	NM_005515.4(MNX1):c.334G>A (p.Gly112Arg)	MNX1 (G112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1470395	NM_005515.4(MNX1):c.313G>C (p.Gly105Arg)	MNX1 (G105R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1348574	NM_005515.4(MNX1):c.274C>T (p.Pro92Ser)	MNX1 (P92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2550716	NM_005515.4(MNX1):c.224C>T (p.Ala75Val)	MNX1 (A75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218600	NM_005515.4(MNX1):c.188C>T (p.Ser63Leu)	MNX1 (S63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184504	NM_005515.4(MNX1):c.182C>G (p.Ala61Gly)	MNX1 (A61G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495094	NM_005515.4(MNX1):c.149C>A (p.Ala50Glu)	MNX1 (A50E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184404	NM_005515.4(MNX1):c.136G>C (p.Gly46Arg)	MNX1 (G46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391070	NM_005515.4(MNX1):c.136G>T (p.Gly46Cys)	MNX1 (G46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393280	NM_005515.4(MNX1):c.133G>A (p.Gly45Ser)	MNX1 (G45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393278	NM_005515.4(MNX1):c.131G>C (p.Gly44Ala)	MNX1 (G44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311559	NM_005515.4(MNX1):c.121A>T (p.Thr41Ser)	MNX1 (T41S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403514	NM_005515.4(MNX1):c.112G>A (p.Ala38Thr)	MNX1 (A38T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184233	NM_005515.4(MNX1):c.103G>A (p.Ala35Thr)	MNX1 (A35T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261440	NM_005515.4(MNX1):c.86C>T (p.Ala29Val)	MNX1 (A29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421092	NM_005515.4(MNX1):c.68C>T (p.Ala23Val)	MNX1 (A23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3295480	NM_005515.4(MNX1):c.43G>T (p.Val15Leu)	MNX1 (V15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30