Related gene-specific medical variations for Gene (Select 9617) - ClinVar - NCBI

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Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217658	NM_004294.4(MTRF1):c.1187G>A (p.Ser396Asn)	KBTBD6-DT, MTRF1 (S396N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217655	NM_004294.4(MTRF1):c.1097G>A (p.Arg366His)	KBTBD6-DT, MTRF1 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623985	NM_004294.4(MTRF1):c.895G>A (p.Asp299Asn)	KBTBD6-DT, MTRF1 (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615691	NM_004294.4(MTRF1):c.1096C>T (p.Arg366Cys)	KBTBD6-DT, MTRF1 (R366C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612560	NM_004294.4(MTRF1):c.1214G>A (p.Arg405His)	KBTBD6-DT, MTRF1 (R405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553916	NM_004294.4(MTRF1):c.1001A>C (p.Glu334Ala)	KBTBD6-DT, MTRF1 (E334A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459673	NM_004294.4(MTRF1):c.1048C>T (p.Arg350Cys)	KBTBD6-DT, MTRF1 (R350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411745	NM_004294.4(MTRF1):c.1322T>A (p.Leu441His)	KBTBD6-DT, MTRF1 (L441H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790675	NM_004294.4(MTRF1):c.1279T>G (p.Ser427Ala)	KBTBD6-DT, MTRF1 (S427A)	Single nucleotide variant (missense variant)	not provided	GBenign