"GeneDx"[submitter] AND "MASTL"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 1251707	NC_000010.11:g.27154694C>G	MASTL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 299774	NM_032844.4(MASTL):c.-481C>T	MASTL	Single nucleotide variant (genic upstream transcript variant)	Thrombocytopenia +1 more	GBenign/Likely benign
Select item 299780	NM_032844.4(MASTL):c.-199G>C	MASTL	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 299785	NM_001172303.3(MASTL):c.-53G>A	MASTL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 262113	NM_001172303.3(MASTL):c.-28C>A	MASTL	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 262112	NM_001172303.3(MASTL):c.-27T>C	MASTL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 262111	NM_001172303.3(MASTL):c.-12T>G	MASTL	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 262117	NM_001172303.3(MASTL):c.186+37C>T	MASTL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268165	NM_001172303.3(MASTL):c.186+165A>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275356	NM_001172303.3(MASTL):c.186+222C>A	LOC130003556, MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263152	NM_001172303.3(MASTL):c.187-273T>C	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231784	NM_001172303.3(MASTL):c.324+150G>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262124	NM_001172303.3(MASTL):c.465-32G>C	MASTL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 262126	NM_001172303.3(MASTL):c.660+12A>T	MASTL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 262127	NM_001172303.3(MASTL):c.812-28G>A	MASTL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1222527	NM_001172303.3(MASTL):c.985-305A>C	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284205	NM_001172303.3(MASTL):c.985-194C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392949	NM_001172303.3(MASTL):c.1232T>C (p.Met411Thr)	MASTL (M411T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 262115	NM_001172303.3(MASTL):c.1782C>T (p.Ile594=)	MASTL	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 262116	NM_001172303.3(MASTL):c.1858C>G (p.Pro620Ala)	MASTL (P620A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1285964	NM_001172303.3(MASTL):c.2124+290A>G	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244703	NM_001172303.3(MASTL):c.2125-94T>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449054	NM_001172303.3(MASTL):c.2161C>T (p.Arg721Ter)	MASTL (R720* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1263702	NM_001172303.3(MASTL):c.2267-272C>G	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254885	NM_001172303.3(MASTL):c.2267-222C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260734	NM_001172303.3(MASTL):c.2267-204G>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224576	NM_001172303.3(MASTL):c.2267-148G>A	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287047	NM_001172303.3(MASTL):c.2381-197C>T	MASTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235648	NM_001172303.3(MASTL):c.2483-298C>T	MASTL, ACBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262121	NM_001172303.3(MASTL):c.2483-33T>C	ACBD5, MASTL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262110	NM_001172303.3(MASTL):c.*29T>C	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 299803	NM_001172303.3(MASTL):c.*114A>G	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	Thrombocytopenia +1 more	GBenign
Select item 299806	NM_001172303.3(MASTL):c.*228T>C	ACBD5, MASTL	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign

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Items: 34