Related gene-specific medical variations for Gene (Select 8720) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243637	NC_000016.9:g.(?_84115332)_(84115533_?)del	MBTPS1	Deletion	not provided	GUncertain significance
Select item 3065874	NM_003791.4(MBTPS1):c.2896C>T (p.Arg966Ter)	MBTPS1 (R966*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia, kondo-fu type	GLikely pathogenic
Select item 3002746	NM_003791.4(MBTPS1):c.963+19C>T	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968204	NM_003791.4(MBTPS1):c.933G>A (p.Pro311=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827877	NM_003791.4(MBTPS1):c.936C>G (p.Asp312Glu)	LOC126862423, MBTPS1 (D312E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780645	NM_003791.4(MBTPS1):c.963+8G>A	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2576118	NM_003791.4(MBTPS1):c.1550C>G (p.Thr517Ser)	MBTPS1 (T517S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576117	NM_003791.4(MBTPS1):c.2567dup (p.Lys857fs)	MBTPS1 (K857fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2419298	NM_003791.4(MBTPS1):c.927C>T (p.Gly309=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2416369	NM_003791.4(MBTPS1):c.847-9T>C	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2193204	NM_003791.4(MBTPS1):c.858A>G (p.Thr286=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176338	NM_003791.4(MBTPS1):c.871G>A (p.Asp291Asn)	LOC126862423, MBTPS1 (D291N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2130442	NM_003791.4(MBTPS1):c.963+16G>T	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2086056	NM_003791.4(MBTPS1):c.847-4C>G	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2077674	NM_003791.4(MBTPS1):c.924C>T (p.Ile308=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2038855	NM_003791.4(MBTPS1):c.963+20A>C	MBTPS1, LOC126862423	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988723	NM_003791.4(MBTPS1):c.963+13A>G	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940903	NM_003791.4(MBTPS1):c.1286+17A>G	LOC130059560, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933190	NM_003791.4(MBTPS1):c.1286+11C>T	LOC130059560, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923020	NM_003791.4(MBTPS1):c.847-16T>C	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912611	NM_003791.4(MBTPS1):c.951G>A (p.Pro317=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910316	NM_003791.4(MBTPS1):c.963+19C>G	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635855	NM_003791.4(MBTPS1):c.847-14T>C	LOC126862423, MBTPS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1539826	NM_003791.4(MBTPS1):c.906C>T (p.Asp302=)	LOC126862423, MBTPS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 976663	NM_003791.4(MBTPS1):c.955G>T (p.Val319Phe)	LOC126862423, MBTPS1 (V319F)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia, kondo-fu type	GLikely pathogenic

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Links from Gene

Items: 25