Related gene-specific medical variations for Gene (Select 55329) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295469	NM_018365.4(MNS1):c.1246C>T (p.Arg416Cys)	MNS1, TEX9 (R416C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295468	NM_018365.4(MNS1):c.851G>C (p.Arg284Pro)	MNS1, TEX9 (R284P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295467	NM_018365.4(MNS1):c.1114G>A (p.Glu372Lys)	MNS1, TEX9 (E372K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295466	NM_018365.4(MNS1):c.757G>C (p.Ala253Pro)	MNS1, TEX9 (A253P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295465	NM_018365.4(MNS1):c.757G>A (p.Ala253Thr)	MNS1, TEX9 (A253T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242214	NM_018365.4(MNS1):c.1391C>T (p.Pro464Leu)	MNS1, TEX9 (P464L)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 9, autosomal, with male infertility	GUncertain significance
Select item 3239105	NM_018365.4(MNS1):c.759T>G (p.Ala253=)	MNS1, TEX9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3183535	NM_018365.4(MNS1):c.666G>T (p.Lys222Asn)	MNS1, TEX9 (K222N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183391	NM_018365.4(MNS1):c.434A>T (p.Asp145Val)	MNS1, TEX9 (D145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183250	NM_018365.4(MNS1):c.1421T>A (p.Ile474Asn)	MNS1, TEX9 (I474N)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3183147	NM_018365.4(MNS1):c.1327A>G (p.Ile443Val)	MNS1, TEX9 (I443V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182980	NM_018365.4(MNS1):c.1162C>G (p.Arg388Gly)	MNS1, TEX9 (R388G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046071	NM_018365.4(MNS1):c.1274G>A (p.Arg425His)	MNS1, TEX9 (R425H)	Single nucleotide variant (missense variant +1 more)	MNS1-related disorder	GLikely benign
Select item 3044659	NM_018365.4(MNS1):c.232G>T (p.Glu78Ter)	MNS1, TEX9 (E78*)	Single nucleotide variant (nonsense)	MNS1-related disorder	GLikely pathogenic
Select item 3025867	NM_018365.4(MNS1):c.239A>G (p.Lys80Arg)	MNS1, TEX9 (K80R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024123	NM_018365.4(MNS1):c.605dup (p.Gln203fs)	MNS1, TEX9 (Q203fs)	Duplication (frameshift variant +1 more)	Heterotaxy, visceral, 9, autosomal, with male infertility	GPathogenic
Select item 2775454	NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del)	MNS1, TEX9 (E226del)	Microsatellite (intron variant)	Heterotaxy, visceral, 9, autosomal, with male infertility	GLikely pathogenic
Select item 2645376	NM_018365.4(MNS1):c.1348A>C (p.Lys450Gln)	MNS1, TEX9 (K450Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2637362	NM_018365.4(MNS1):c.353+3A>G	MNS1, TEX9	Single nucleotide variant (intron variant)	MNS1-related disorder	GUncertain significance
Select item 2599818	NM_018365.4(MNS1):c.532G>T (p.Asp178Tyr)	MNS1, TEX9 (D178Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582460	NM_018365.4(MNS1):c.1163G>A (p.Arg388Gln)	MNS1, TEX9 (R388Q)	Single nucleotide variant (missense variant +1 more)	Heterotaxy, visceral, 9, autosomal, with male infertility	GUncertain significance
Select item 2568562	NM_018365.4(MNS1):c.263A>G (p.Lys88Arg)	MNS1, TEX9 (K88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546438	NM_018365.4(MNS1):c.722T>C (p.Met241Thr)	MNS1, TEX9 (M241T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518210	NM_018365.4(MNS1):c.751G>C (p.Glu251Gln)	MNS1, TEX9 (E251Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513969	NM_018365.4(MNS1):c.452A>T (p.Gln151Leu)	MNS1, TEX9 (Q151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512143	NM_018365.4(MNS1):c.938G>A (p.Arg313His)	MNS1, TEX9 (R313H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510160	NM_018365.4(MNS1):c.539G>A (p.Arg180Gln)	MNS1, TEX9 (R180Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491755	NM_018365.4(MNS1):c.1344G>T (p.Arg448Ser)	MNS1, TEX9 (R448S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478502	NM_018365.4(MNS1):c.1160A>T (p.Asp387Val)	MNS1, TEX9 (D387V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472582	NM_018365.4(MNS1):c.1324G>C (p.Ala442Pro)	MNS1, TEX9 (A442P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370609	NM_018365.4(MNS1):c.574G>C (p.Glu192Gln)	MNS1, TEX9 (E192Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362799	NM_018365.4(MNS1):c.1306C>T (p.Arg436Trp)	MNS1, TEX9 (R436W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358254	NM_018365.4(MNS1):c.1399G>A (p.Val467Ile)	MNS1, TEX9 (V467I)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2329738	NM_018365.4(MNS1):c.548C>T (p.Ala183Val)	MNS1, TEX9 (A183V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2270028	NM_018365.4(MNS1):c.1414G>A (p.Asp472Asn)	MNS1, TEX9 (D472N)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2264981	NM_018365.4(MNS1):c.406G>C (p.Glu136Gln)	MNS1, TEX9 (E136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238130	NM_018365.4(MNS1):c.934C>A (p.Gln312Lys)	MNS1, TEX9 (Q312K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234340	NM_018365.4(MNS1):c.1204C>A (p.Leu402Met)	MNS1, TEX9 (L402M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216742	NM_018365.4(MNS1):c.757G>T (p.Ala253Ser)	MNS1, TEX9 (A253S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210489	NM_018365.4(MNS1):c.289T>A (p.Leu97Met)	MNS1, TEX9 (L97M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207336	NM_018365.4(MNS1):c.1301A>G (p.Gln434Arg)	MNS1, TEX9 (Q434R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205101	NM_018365.4(MNS1):c.937C>T (p.Arg313Cys)	MNS1, TEX9 (R313C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1709310	NM_018365.4(MNS1):c.538C>T (p.Arg180Ter)	MNS1, TEX9 (R180*)	Single nucleotide variant (nonsense +1 more)	Heterotaxy, visceral, 9, autosomal, with male infertility	GLikely pathogenic
Select item 1709309	NM_018365.4(MNS1):c.375G>T (p.Glu125Asp)	MNS1, TEX9 (E125D)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 9, autosomal, with male infertility	GUncertain significance
Select item 1315901	NM_018365.4(MNS1):c.1405A>T (p.Lys469Ter)	MNS1, TEX9 (K469*)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1235571	NM_018365.4(MNS1):c.1396-15G>A	MNS1, TEX9	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 973691	NM_018365.4(MNS1):c.724C>T (p.Arg242Ter)	MNS1, TEX9 (R242*)	Single nucleotide variant (nonsense +1 more)	MNS1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 737404	NM_018365.4(MNS1):c.1487G>T (p.Ter496Leu)	MNS1, TEX9	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1, TEX9 (E136fs)	Microsatellite (frameshift variant)	Situs inversus	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 49