"MTMR8-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3037512	NM_017677.4(MTMR8):c.2008T>A (p.Leu670Met)	MTMR8 (L436M +1 more)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3038272	NM_017677.4(MTMR8):c.2007C>A (p.Asn669Lys)	MTMR8 (N435K +1 more)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3044383	NM_017677.4(MTMR8):c.1844T>C (p.Ile615Thr)	MTMR8 (I381T +1 more)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GBenign
Select item 3039134	NM_017677.4(MTMR8):c.1521G>A (p.Leu507=)	MTMR8	Single nucleotide variant (synonymous variant)	MTMR8-related disorder	GLikely benign
Select item 3057266	NM_004686.5(MTMR7):c.1065G>T (p.Leu355=)	MTMR8	Single nucleotide variant (synonymous variant)	MTMR8-related disorder	GLikely benign
Select item 3046154	NM_017677.4(MTMR8):c.232C>T (p.Arg78Trp)	MTMR8 (R78W)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GLikely benign
Select item 3046031	NM_017677.4(MTMR8):c.185C>A (p.Pro62His)	MTMR8 (P62H)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GLikely benign
Select item 3057750	NM_017677.4(MTMR8):c.130G>A (p.Ala44Thr)	MTMR8 (A44T)	Single nucleotide variant (missense variant)	MTMR8-related disorder	GLikely benign
Select item 3053545	NM_017677.4(MTMR8):c.-9A>T	LOC130068370, MTMR8	Single nucleotide variant (5 prime UTR variant)	MTMR8-related disorder	GLikely benign
Select item 3042048	NM_017677.4(MTMR8):c.-9A>C	LOC130068370, MTMR8	Single nucleotide variant (5 prime UTR variant)	MTMR8-related disorder	GLikely benign