Related gene-specific medical variations for Gene (Select 26012) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202392	NM_001130969.3(NSMF):c.1552C>T (p.Arg518Cys)	LOC126860797, NSMF (R493C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2981044	NM_001130969.3(NSMF):c.1237-11G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2959351	NM_001130969.3(NSMF):c.1237-20C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776652	NM_001130969.3(NSMF):c.1350A>G (p.Lys450=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2536253	NM_001130969.3(NSMF):c.31C>A (p.Leu11Met)	LOC130003121, NSMF (L11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534360	NM_001130969.3(NSMF):c.11C>T (p.Ala4Val)	LOC130003121, NSMF (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482996	NM_001130969.3(NSMF):c.1585G>T (p.Val529Phe)	LOC126860797, NSMF (V504F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474279	NM_001130969.3(NSMF):c.1393A>G (p.Ile465Val)	LOC126860797, NSMF (I463V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434447	NM_001130969.3(NSMF):c.194C>A (p.Pro65His)	NSMF (P65H)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 2326702	NM_001130969.3(NSMF):c.1430A>G (p.Asn477Ser)	LOC126860797, NSMF (N447S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237510	NM_001130969.3(NSMF):c.1585G>A (p.Val529Ile)	LOC126860797, NSMF (V504I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191340	NM_001130969.3(NSMF):c.1515G>A (p.Thr505=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182417	NM_001130969.3(NSMF):c.1315C>T (p.His439Tyr)	LOC126860797, NSMF (H416Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037569	NM_001130969.3(NSMF):c.1368C>T (p.Asn456=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987621	NM_001130969.3(NSMF):c.1316+17C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1907384	NM_001130969.3(NSMF):c.1316+16C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590699	NM_001130969.3(NSMF):c.1581C>T (p.Asp527=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1415212	NM_001130969.3(NSMF):c.1496-7C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321474	NM_001130969.3(NSMF):c.1317-64C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271348	NM_001130969.3(NSMF):c.1419+47C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266758	NM_001130969.3(NSMF):c.-229T>C	LOC130003122, NSMF	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1215926	NM_001130969.3(NSMF):c.1347C>T (p.Ser449=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1206614	NM_001130969.3(NSMF):c.-159GACCCCGAGCCC[1]	LOC130003122, NSMF	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1193385	NM_001130969.3(NSMF):c.1401G>A (p.Gly467=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1187460	NM_001130969.3(NSMF):c.71+37T>C	LOC130003121, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 978574	NM_001130969.3(NSMF):c.53C>A (p.Ser18Ter)	LOC130003121, NSMF (S18*)	Single nucleotide variant (nonsense)	Pituitary stalk interruption syndrome	GPathogenic
Select item 976066	NM_001130969.3(NSMF):c.1435A>G (p.Arg479Gly)	LOC126860797, NSMF (R449G +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 931977	NM_001130969.3(NSMF):c.586C>T (p.Arg196Cys)	NSMF (R196C)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 797106	NM_001130969.3(NSMF):c.1524C>T (p.Asp508=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781936	NM_001130969.3(NSMF):c.1496-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743638	NM_001130969.3(NSMF):c.1237-10C>T	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739920	NM_001130969.3(NSMF):c.1419+3A>G	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 713118	NM_001130969.3(NSMF):c.1330C>T (p.Leu444=)	LOC126860797, NSMF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 673559	NM_001130969.3(NSMF):c.1495+41G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673329	NM_001130969.3(NSMF):c.1420-78G>A	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 638190	NM_001130969.3(NSMF):c.1261C>T (p.Leu421Phe)	LOC126860797, NSMF (L421F +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	GUncertain significance
Select item 516527	NM_001130969.3(NSMF):c.1237-9T>C	LOC126860797, NSMF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 450266	NM_001130969.3(NSMF):c.1404C>A (p.Asn468Lys)	LOC126860797, NSMF (N466K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426818	NM_001130969.3(NSMF):c.1414G>A (p.Glu472Lys)	LOC126860797, NSMF (E470K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194414	NM_001130969.3(NSMF):c.1467C>T (p.Phe489=)	NSMF, LOC126860797	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 138563	NM_001130969.3(NSMF):c.71+9G>A	LOC130003121, NSMF	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2524	NM_001130969.3(NSMF):c.1438A>G (p.Thr480Ala)	LOC126860797, NSMF (T480A +4 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 9 with or without anosmia	Grisk factor

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Links from Gene

Items: 42