MNS1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 2207336	NM_018365.4(MNS1):c.1301A>G (p.Gln434Arg)	MNS1, TEX9 (Q434R)	Single nucleotide variant (intron 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 973691	NM_018365.4(MNS1):c.724C>T (p.Arg242Ter)	MNS1, TEX9 (R242*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 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 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 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 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 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 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 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 2513969	NM_018365.4(MNS1):c.452A>T (p.Gln151Leu)	MNS1, TEX9 (Q151L)	Single nucleotide variant (missense variant)	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 635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1, TEX9 (E136fs)	Microsatellite (frameshift variant)	Situs inversus	GLikely pathogenic
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 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 2637362	NM_018365.4(MNS1):c.353+3A>G	MNS1, TEX9	Single nucleotide variant (intron variant)	MNS1-related disorder	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 2568562	NM_018365.4(MNS1):c.263A>G (p.Lys88Arg)	MNS1, TEX9 (K88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3044659	NM_018365.4(MNS1):c.232G>T (p.Glu78Ter)	MNS1, TEX9 (E78*)	Single nucleotide variant (nonsense)	MNS1-related disorder	GLikely pathogenic
Select item 3183268	NM_018365.4(MNS1):c.205A>G (p.Met69Val)	MNS1 (M69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295470	NM_018365.4(MNS1):c.181C>G (p.Gln61Glu)	MNS1 (Q61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235303	NM_018365.4(MNS1):c.164A>C (p.Gln55Pro)	MNS1 (Q55P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2541058	NM_018365.4(MNS1):c.70A>G (p.Lys24Glu)	MNS1 (K24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024124	NM_018365.4(MNS1):c.68_69delinsAG (p.Cys23Ter)	MNS1 (C23*)	Indel (nonsense)	Heterotaxy, visceral, 9, autosomal, with male infertility	GPathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1340208	GRCh37/hg19 15q21.3(chr15:55772371-57880518)x1	CGNL1, DNAAF4 +8 more	Copy number loss	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 71