ClinVar for Gene (Select 10371) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381953	NM_006080.3(SEMA3A):c.607C>T (p.Arg203Ter)	SEMA3A (R203*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 16 with or without anosmia	GUncertain significance
Select item 3358801	NM_006080.3(SEMA3A):c.987G>C (p.Thr329=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3358776	NM_006080.3(SEMA3A):c.284T>C (p.Val95Ala)	SEMA3A (V95A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358644	NM_006080.3(SEMA3A):c.2097G>T (p.Gln699His)	SEMA3A (Q699H)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358643	NM_006080.3(SEMA3A):c.2141A>G (p.Asn714Ser)	SEMA3A (N714S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358551	NM_006080.3(SEMA3A):c.1393C>T (p.Pro465Ser)	SEMA3A (P465S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358495	NM_006080.3(SEMA3A):c.1128A>G (p.Pro376=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3358414	NM_006080.3(SEMA3A):c.1169A>T (p.Asp390Val)	SEMA3A (D390V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358332	NM_006080.3(SEMA3A):c.2033A>T (p.His678Leu)	SEMA3A (H678L)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358122	NM_006080.3(SEMA3A):c.1711C>G (p.His571Asp)	SEMA3A (H571D)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3358025	NM_006080.3(SEMA3A):c.599C>T (p.Ala200Val)	SEMA3A (A200V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357942	NM_006080.3(SEMA3A):c.1861-9dup	SEMA3A	Duplication (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3357840	NM_006080.3(SEMA3A):c.160A>G (p.Ser54Gly)	SEMA3A (S54G)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357762	NM_006080.3(SEMA3A):c.2197C>T (p.Arg733Cys)	SEMA3A (R733C)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357760	NM_006080.3(SEMA3A):c.2304C>T (p.Pro768=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3357707	NM_006080.3(SEMA3A):c.1474A>C (p.Met492Leu)	SEMA3A (M492L)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357693	NM_006080.3(SEMA3A):c.1576G>A (p.Glu526Lys)	SEMA3A (E526K)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357606	NM_006080.3(SEMA3A):c.1032C>T (p.Ser344=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3357597	NM_006080.3(SEMA3A):c.1519G>C (p.Ala507Pro)	SEMA3A (A507P)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357474	NM_006080.3(SEMA3A):c.1547G>A (p.Arg516Gln)	SEMA3A (R516Q)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357394	NM_006080.3(SEMA3A):c.112+9T>A	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3357388	NM_006080.3(SEMA3A):c.338A>G (p.Glu113Gly)	SEMA3A (E113G)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357364	NM_006080.3(SEMA3A):c.83A>G (p.Asn28Ser)	SEMA3A (N28S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357345	NM_006080.3(SEMA3A):c.1518G>A (p.Thr506=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GUncertain significance
Select item 3357102	NM_006080.3(SEMA3A):c.1536C>T (p.Leu512=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3356965	NM_006080.3(SEMA3A):c.2148C>T (p.Asn716=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3356930	NM_006080.3(SEMA3A):c.2076C>T (p.Ser692=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3356813	NM_006080.3(SEMA3A):c.*3T>G	SEMA3A	Single nucleotide variant (3 prime UTR variant)	SEMA3A-related disorder	GLikely benign
Select item 3356701	NM_006080.3(SEMA3A):c.1340A>G (p.Asp447Gly)	SEMA3A (D447G)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3356567	NM_006080.3(SEMA3A):c.885G>A (p.Val295=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3356381	NM_006080.3(SEMA3A):c.270+6A>C	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3356342	NM_006080.3(SEMA3A):c.1516A>G (p.Thr506Ala)	SEMA3A (T506A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3356103	NM_006080.3(SEMA3A):c.1236A>G (p.Pro412=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3355774	NM_006080.3(SEMA3A):c.1089C>G (p.Asn363Lys)	SEMA3A (N363K)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355760	NM_006080.3(SEMA3A):c.1710A>C (p.Leu570Phe)	SEMA3A (L570F)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355735	NM_006080.3(SEMA3A):c.869G>A (p.Arg290His)	SEMA3A (R290H)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355625	NM_006080.3(SEMA3A):c.1432G>A (p.Glu478Lys)	SEMA3A (E478K)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355453	NM_006080.3(SEMA3A):c.729A>G (p.Val243=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3355428	NM_006080.3(SEMA3A):c.384C>T (p.His128=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3355199	NM_006080.3(SEMA3A):c.2053G>A (p.Gly685Ser)	SEMA3A (G685S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355168	NM_006080.3(SEMA3A):c.450T>C (p.Pro150=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3355121	NM_006080.3(SEMA3A):c.438T>G (p.Ile146Met)	SEMA3A (I146M)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3355099	NM_006080.3(SEMA3A):c.1452+8_1452+19del	SEMA3A	Deletion (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3355038	NM_006080.3(SEMA3A):c.811-6T>C	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GUncertain significance
Select item 3354330	NM_006080.3(SEMA3A):c.-6dup	SEMA3A	Duplication (5 prime UTR variant)	SEMA3A-related disorder	GLikely benign
Select item 3354301	NM_006080.3(SEMA3A):c.987G>A (p.Thr329=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3354281	NM_006080.3(SEMA3A):c.1509T>G (p.Ile503Met)	SEMA3A (I503M)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3354262	NM_006080.3(SEMA3A):c.845A>G (p.Lys282Arg)	SEMA3A (K282R)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3354141	NM_006080.3(SEMA3A):c.1717+5G>A	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GUncertain significance
Select item 3354107	NM_006080.3(SEMA3A):c.312G>A (p.Lys104=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3354061	NM_006080.3(SEMA3A):c.1779A>G (p.Thr593=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3354049	NM_006080.3(SEMA3A):c.1066T>C (p.Tyr356His)	SEMA3A (Y356H)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3354020	NM_006080.3(SEMA3A):c.1140+3A>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3353915	NM_006080.3(SEMA3A):c.125C>A (p.Ser42Tyr)	SEMA3A (S42Y)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3353859	NM_006080.3(SEMA3A):c.1495-4A>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3353843	NM_006080.3(SEMA3A):c.1506T>C (p.Tyr502=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3353173	NM_006080.3(SEMA3A):c.2027T>G (p.Leu676Arg)	SEMA3A (L676R)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3353000	NM_006080.3(SEMA3A):c.197G>A (p.Arg66Gln)	SEMA3A (R66Q)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3352697	NM_006080.3(SEMA3A):c.1591C>T (p.Arg531Ter)	SEMA3A (R531*)	Single nucleotide variant (nonsense)	SEMA3A-related disorder	GLikely pathogenic
Select item 3352349	NM_006080.3(SEMA3A):c.1462G>T (p.Ala488Ser)	SEMA3A (A488S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351963	NM_006080.3(SEMA3A):c.2009C>G (p.Thr670Arg)	SEMA3A (T670R)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351895	NM_006080.3(SEMA3A):c.453+6G>A	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3351845	NM_006080.3(SEMA3A):c.302A>G (p.Asp101Gly)	SEMA3A (D101G)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351559	NM_006080.3(SEMA3A):c.1991C>G (p.Thr664Ser)	SEMA3A (T664S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351548	NM_006080.3(SEMA3A):c.271A>G (p.Ile91Val)	SEMA3A (I91V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351297	NM_006080.3(SEMA3A):c.861C>T (p.Leu287=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3351213	NM_006080.3(SEMA3A):c.265C>G (p.Gln89Glu)	SEMA3A (Q89E)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3351102	NM_006080.3(SEMA3A):c.1524G>A (p.Gly508=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3351039	NM_006080.3(SEMA3A):c.1412A>C (p.Asp471Ala)	SEMA3A (D471A)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3350912	NM_006080.3(SEMA3A):c.14C>G (p.Thr5Ser)	SEMA3A (T5S)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3350831	NM_006080.3(SEMA3A):c.1452+10_1452+12del	SEMA3A	Microsatellite (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3350534	NM_006080.3(SEMA3A):c.1141-3T>C	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3350438	NM_006080.3(SEMA3A):c.1523G>A (p.Gly508Glu)	SEMA3A (G508E)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3350140	NM_006080.3(SEMA3A):c.1101G>A (p.Val367=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3350131	NM_006080.3(SEMA3A):c.1141-5_1141-2dup	SEMA3A	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 3349682	NM_006080.3(SEMA3A):c.247G>C (p.Val83Leu)	SEMA3A (V83L)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349664	NM_006080.3(SEMA3A):c.2143C>G (p.Leu715Val)	SEMA3A (L715V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349596	NM_006080.3(SEMA3A):c.941T>C (p.Met314Thr)	SEMA3A (M314T)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349481	NM_006080.3(SEMA3A):c.1139C>T (p.Thr380Ile)	SEMA3A (T380I)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349349	NM_006080.3(SEMA3A):c.801G>C (p.Gln267His)	SEMA3A (Q267H)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349129	NM_006080.3(SEMA3A):c.601A>G (p.Ile201Val)	SEMA3A (I201V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3349024	NM_006080.3(SEMA3A):c.1952C>T (p.Ala651Val)	SEMA3A (A651V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3348887	NM_006080.3(SEMA3A):c.533C>T (p.Ala178Val)	SEMA3A (A178V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3348597	NM_006080.3(SEMA3A):c.811-7C>G	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3348584	NM_006080.3(SEMA3A):c.50C>A (p.Thr17Lys)	SEMA3A (T17K)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3348528	NM_006080.3(SEMA3A):c.454G>A (p.Asp152Asn)	SEMA3A (D152N)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3348486	NM_006080.3(SEMA3A):c.623A>G (p.His208Arg)	SEMA3A (H208R)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3348032	NM_006080.3(SEMA3A):c.688C>G (p.His230Asp)	SEMA3A (H230D)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3347508	NM_006080.3(SEMA3A):c.1810G>C (p.Ala604Pro)	SEMA3A (A604P)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3347471	NM_006080.3(SEMA3A):c.1634A>G (p.Tyr545Cys)	SEMA3A (Y545C)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3347278	NM_006080.3(SEMA3A):c.607dup (p.Arg203fs)	SEMA3A (R203fs)	Duplication (frameshift variant)	SEMA3A-related disorder	GLikely pathogenic
Select item 3347025	NM_006080.3(SEMA3A):c.668-7C>T	SEMA3A	Single nucleotide variant (intron variant)	SEMA3A-related disorder	GLikely benign
Select item 3346598	NM_006080.3(SEMA3A):c.47T>C (p.Leu16Pro)	SEMA3A (L16P)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3346347	NM_006080.3(SEMA3A):c.2271A>G (p.Arg757=)	SEMA3A	Single nucleotide variant (synonymous variant)	SEMA3A-related disorder	GLikely benign
Select item 3345871	NM_006080.3(SEMA3A):c.925+1G>A	SEMA3A	Single nucleotide variant (splice donor variant)	SEMA3A-related disorder	GUncertain significance
Select item 3345845	NM_006080.3(SEMA3A):c.1440G>A (p.Met480Ile)	SEMA3A (M480I)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3345499	NM_006080.3(SEMA3A):c.1465A>G (p.Ile489Val)	SEMA3A (I489V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3345422	NM_006080.3(SEMA3A):c.995+5_995+8del	SEMA3A	Microsatellite (splice donor variant)	SEMA3A-related disorder	GLikely benign
Select item 3345004	NM_006080.3(SEMA3A):c.161G>A (p.Ser54Asn)	SEMA3A (S54N)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance
Select item 3344801	NM_006080.3(SEMA3A):c.752C>T (p.Ala251Val)	SEMA3A (A251V)	Single nucleotide variant (missense variant)	SEMA3A-related disorder	GUncertain significance

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