Related gene-specific medical variations for Gene (Select 374618) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GLikely benign
Select item 3044659	NM_018365.4(MNS1):c.232G>T (p.Glu78Ter)	MNS1, TEX9 (E78*)	Single nucleotide variant (nonsense)	MNS1-related condition	GLikely pathogenic
Select item 3025867	NM_018365.4(MNS1):c.239A>G (p.Lys80Arg)	TEX9, MNS1 (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 (inframe_deletion +1 more)	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 condition	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)	TEX9, MNS1 (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 (non-coding transcript 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 condition +1 more	GPathogenic/Likely pathogenic
Select item 737404	NM_018365.4(MNS1):c.1487G>T (p.Ter496Leu)	MNS1, TEX9	Single nucleotide variant (non-coding transcript variant +3 more)	MNS1-related condition +1 more	GBenign
Select item 635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1, TEX9 (E136fs)	Microsatellite (frameshift variant)	Situs inversus	GLikely pathogenic

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Links from Gene

Items: 42