Related gene-specific medical variations for Gene (Select 4330) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361585	NM_002430.3(MN1):c.136G>A (p.Gly46Ser)	MN1 (G46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360667	NM_002430.3(MN1):c.3559G>A (p.Val1187Ile)	MN1 (V1187I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360171	NM_002430.3(MN1):c.760G>A (p.Gly254Arg)	MN1 (G254R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360075	NM_002430.3(MN1):c.2364G>T (p.Gln788His)	MN1 (Q788H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359847	NM_002430.3(MN1):c.1348T>A (p.Tyr450Asn)	MN1 (Y450N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359803	NM_002430.3(MN1):c.3647T>G (p.Leu1216Arg)	MN1 (L1216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359319	NM_002430.3(MN1):c.712G>A (p.Glu238Lys)	MN1 (E238K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068095	NM_002430.3(MN1):c.912GCA[9] (p.Gln309_His310insGlnGlnGln)	MN1	Microsatellite (inframe_insertion)	CEBALID syndrome	GUncertain significance
Select item 3064799	NM_002430.3(MN1):c.704del (p.Tyr235fs)	MN1 (Y235fs)	Deletion (frameshift variant)	CEBALID syndrome	GUncertain significance
Select item 2689436	NM_002430.3(MN1):c.3077G>A (p.Gly1026Glu)	MN1 (G1026E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582430	NM_002430.3(MN1):c.2146G>A (p.Gly716Arg)	MN1 (G716R)	Single nucleotide variant (missense variant)	CEBALID syndrome	GUncertain significance
Select item 2576072	NM_002430.3(MN1):c.2063del (p.Gly688fs)	MN1 (G688fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433773	NM_002430.3(MN1):c.1837G>C (p.Gly613Arg)	MN1 (G613R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433772	NM_002430.3(MN1):c.889_891delinsACCCAG (p.Pro297delinsThrGln)	MN1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2433771	NM_002430.3(MN1):c.2306C>T (p.Ala769Val)	MN1 (A769V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433770	NM_002430.3(MN1):c.2058G>T (p.Met686Ile)	MN1 (M686I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696656	NM_002430.3(MN1):c.2612C>T (p.Ala871Val)	MN1 (A871V)	Single nucleotide variant (missense variant)	CEBALID syndrome	GUncertain significance
Select item 1679619	NM_002430.3(MN1):c.2211G>A (p.Thr737=)	MN1	Single nucleotide variant (synonymous variant)	CEBALID syndrome	GUncertain significance
Select item 564987	GRCh37/hg19 22q12.1(chr22:27989889-28227934)x3	MN1	Copy number gain	not provided	GUncertain significance