"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MCF2L"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 741303	NM_001112732.3(MCF2L):c.4A>C (p.Arg2=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643971	NM_001112732.3(MCF2L):c.79+10238C>A	MCF2L (T10N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2643972	NM_001112732.3(MCF2L):c.80-2600G>A	MCF2L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2643973	NM_001112732.3(MCF2L):c.669C>T (p.Thr223=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643974	NM_001112732.3(MCF2L):c.753G>A (p.Ala251=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791502	NM_001112732.3(MCF2L):c.874G>A (p.Val292Met)	MCF2L (V290M +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2672551	NM_001112732.3(MCF2L):c.1244C>T (p.Ala415Val)	MCF2L (A377V +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2212151	NM_001112732.3(MCF2L):c.1295G>A (p.Arg432His)	MCF2L (R394H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2643975	NM_001112732.3(MCF2L):c.1570C>A (p.Leu524Met)	MCF2L (L486M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643976	NM_001112732.3(MCF2L):c.1674C>T (p.Gly558=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643977	NM_001112732.3(MCF2L):c.1887G>A (p.Ala629=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643978	NM_001112732.3(MCF2L):c.2364C>T (p.Thr788=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719931	NM_001112732.3(MCF2L):c.2595C>T (p.Asn865=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643979	NM_001112732.3(MCF2L):c.2994C>T (p.Asp998=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391656	NM_001112732.3(MCF2L):c.2995G>A (p.Asp999Asn)	MCF2L (D961N +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2643980	NM_001112732.3(MCF2L):c.3306G>A (p.Gly1102=)	MCF2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic