ClinVar for Gene (Select 9723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358816	NM_012431.3(SEMA3E):c.1431A>G (p.Val477=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3358407	NM_012431.3(SEMA3E):c.1366+5A>C	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3358331	NM_012431.3(SEMA3E):c.2070G>C (p.Arg690Ser)	SEMA3E (R630S +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3357738	NM_012431.3(SEMA3E):c.1499G>A (p.Arg500Gln)	SEMA3E (R440Q +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3356864	NM_012431.3(SEMA3E):c.1459-7A>T	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3356812	NM_012431.3(SEMA3E):c.2163C>T (p.Asn721=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3356589	NM_012431.3(SEMA3E):c.499A>G (p.Arg167Gly)	SEMA3E (R107G +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3356345	NM_012431.3(SEMA3E):c.1572T>A (p.Ser524Arg)	SEMA3E (S464R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3356236	NM_012431.3(SEMA3E):c.1020T>C (p.Ala340=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3356181	NM_012431.3(SEMA3E):c.2154T>G (p.Gly718=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3356174	NM_012431.3(SEMA3E):c.906T>C (p.Ile302=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3355693	NM_012431.3(SEMA3E):c.912A>G (p.Thr304=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3355441	NM_012431.3(SEMA3E):c.1996C>A (p.Arg666Ser)	SEMA3E (R606S +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3355347	NM_012431.3(SEMA3E):c.604A>C (p.Ile202Leu)	SEMA3E (I142L +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3355340	NM_012431.3(SEMA3E):c.889C>T (p.Pro297Ser)	SEMA3E (P237S +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3355323	NM_012431.3(SEMA3E):c.45C>T (p.Tyr15=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3355094	NM_012431.3(SEMA3E):c.1554C>T (p.His518=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3355043	NM_012431.3(SEMA3E):c.90C>G (p.His30Gln)	SEMA3E (H30Q)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3354969	NM_012431.3(SEMA3E):c.405T>C (p.Thr135=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3354949	NM_012431.3(SEMA3E):c.1897G>A (p.Val633Ile)	SEMA3E (V573I +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3354460	NM_012431.3(SEMA3E):c.2065G>A (p.Asp689Asn)	SEMA3E (D629N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3354238	NM_012431.3(SEMA3E):c.183G>T (p.Met61Ile)	SEMA3E (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3E-related disorder	GUncertain significance
Select item 3354207	NM_012431.3(SEMA3E):c.2148G>A (p.Leu716=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3354001	NM_012431.3(SEMA3E):c.113A>G (p.Lys38Arg)	SEMA3E (K38R)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3353995	NM_012431.3(SEMA3E):c.2012A>G (p.Glu671Gly)	SEMA3E (E611G +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3353867	NM_012431.3(SEMA3E):c.774T>C (p.Asn258=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3353759	NM_012431.3(SEMA3E):c.588G>C (p.Trp196Cys)	SEMA3E (W136C +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3353533	NM_012431.3(SEMA3E):c.170A>T (p.Asp57Val)	SEMA3E (D57V)	Single nucleotide variant (5 prime UTR variant +1 more)	SEMA3E-related disorder	GUncertain significance
Select item 3352946	NM_012431.3(SEMA3E):c.1241C>A (p.Ala414Asp)	SEMA3E (A354D +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GLikely benign
Select item 3352419	NM_012431.3(SEMA3E):c.2259C>T (p.Asn753=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3351985	NM_012431.3(SEMA3E):c.1875+9T>C	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3351471	NM_012431.3(SEMA3E):c.2188G>A (p.Glu730Lys)	SEMA3E (E670K +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3351278	NM_012431.3(SEMA3E):c.115+9C>G	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3350967	NM_012431.3(SEMA3E):c.1814G>T (p.Arg605Leu)	SEMA3E (R545L +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3350569	NM_012431.3(SEMA3E):c.1980C>A (p.Ser660Arg)	SEMA3E (S600R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3350319	NM_012431.3(SEMA3E):c.505A>C (p.Arg169=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3350217	NM_012431.3(SEMA3E):c.288G>A (p.Pro96=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3350102	NM_012431.3(SEMA3E):c.1626A>G (p.Ile542Met)	SEMA3E (I482M +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3349962	NM_012431.3(SEMA3E):c.361G>A (p.Val121Ile)	SEMA3E (V121I +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3349898	NM_012431.3(SEMA3E):c.602C>A (p.Ala201Glu)	SEMA3E (A141E +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3349858	NM_012431.3(SEMA3E):c.1723C>G (p.Gln575Glu)	SEMA3E (Q515E +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3349818	NM_012431.3(SEMA3E):c.1648A>G (p.Thr550Ala)	SEMA3E (T490A +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3349791	NM_012431.3(SEMA3E):c.2253T>G (p.Tyr751Ter)	SEMA3E (Y691* +1 more)	Single nucleotide variant (nonsense)	SEMA3E-related disorder	GUncertain significance
Select item 3349296	NM_012431.3(SEMA3E):c.819T>G (p.Asp273Glu)	SEMA3E (D213E +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3348670	NM_012431.3(SEMA3E):c.500G>A (p.Arg167Lys)	SEMA3E (R107K +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3348553	NM_012431.3(SEMA3E):c.780C>G (p.His260Gln)	SEMA3E (H200Q +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3348496	NM_012431.3(SEMA3E):c.1004T>A (p.Ile335Asn)	SEMA3E (I275N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3347986	NM_012431.3(SEMA3E):c.1284T>G (p.Asp428Glu)	SEMA3E (D368E +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3347971	NM_012431.3(SEMA3E):c.1500+4A>C	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3347237	NM_012431.3(SEMA3E):c.1136C>G (p.Pro379Arg)	SEMA3E (P319R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3346549	NM_012431.3(SEMA3E):c.1933C>A (p.His645Asn)	SEMA3E (H585N +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3346036	NM_012431.3(SEMA3E):c.984C>A (p.Leu328=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3345762	NM_012431.3(SEMA3E):c.2281T>G (p.Ser761Ala)	SEMA3E (S701A +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3345530	NM_012431.3(SEMA3E):c.1312G>A (p.Val438Ile)	SEMA3E (V378I +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3345493	NM_012431.3(SEMA3E):c.1652G>T (p.Gly551Val)	SEMA3E (G491V +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3345469	NM_012431.3(SEMA3E):c.1553A>G (p.His518Arg)	SEMA3E (H458R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3344923	NM_012431.3(SEMA3E):c.682G>T (p.Val228Leu)	SEMA3E (V168L +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3344910	NM_012431.3(SEMA3E):c.631C>G (p.His211Asp)	SEMA3E (H151D +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3336536	NM_012431.3(SEMA3E):c.1207C>T (p.Arg403Ter)	SEMA3E (R343* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 3317293	NM_012431.3(SEMA3E):c.1241C>T (p.Ala414Val)	SEMA3E (A354V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317292	NM_012431.3(SEMA3E):c.2057A>G (p.Asp686Gly)	SEMA3E (D626G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245717	NC_000007.13:g.(?_83277724)_(83614813_?)dup	SEMA3A, SEMA3E	Duplication	CHARGE syndrome	GUncertain significance
Select item 3159726	NM_012431.3(SEMA3E):c.71A>G (p.His24Arg)	SEMA3E (H24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159725	NM_012431.3(SEMA3E):c.208C>T (p.Leu70Phe)	SEMA3E (L70F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159724	NM_012431.3(SEMA3E):c.1318C>G (p.Arg440Gly)	SEMA3E (R380G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159723	NM_012431.3(SEMA3E):c.130A>G (p.Asn44Asp)	SEMA3E (N44D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159722	NM_012431.3(SEMA3E):c.113A>T (p.Lys38Ile)	SEMA3E (K38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061343	NM_012431.3(SEMA3E):c.214G>C (p.Val72Leu)	SEMA3E (V12L +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3061105	NM_012431.3(SEMA3E):c.1675C>T (p.Arg559Trp)	SEMA3E (R499W +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3061085	NM_012431.3(SEMA3E):c.2103C>A (p.Ser701Arg)	SEMA3E (S641R +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3055428	NM_012431.3(SEMA3E):c.1143T>G (p.Ser381=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3055133	NM_012431.3(SEMA3E):c.1381C>T (p.Leu461=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3053673	NM_012431.3(SEMA3E):c.1332G>A (p.Glu444=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3048610	NM_012431.3(SEMA3E):c.360G>A (p.Arg120=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3047069	NM_012431.3(SEMA3E):c.302A>C (p.Lys101Thr)	SEMA3E (K101T +1 more)	Single nucleotide variant (missense variant)	SEMA3E-related disorder	GUncertain significance
Select item 3044930	NM_012431.3(SEMA3E):c.933C>T (p.Asp311=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3044633	NM_012431.3(SEMA3E):c.2223G>A (p.Lys741=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3042420	NM_012431.3(SEMA3E):c.-6G>A	SEMA3E	Single nucleotide variant (5 prime UTR variant)	SEMA3E-related disorder	GLikely benign
Select item 3032812	NM_012431.3(SEMA3E):c.201A>G (p.Gln67=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3030625	NM_012431.3(SEMA3E):c.1735+6C>T	SEMA3E	Single nucleotide variant (intron variant)	SEMA3E-related disorder	GLikely benign
Select item 3029182	NM_012431.3(SEMA3E):c.1533G>T (p.Val511=)	SEMA3E	Single nucleotide variant (synonymous variant)	SEMA3E-related disorder	GLikely benign
Select item 3027025	NM_012431.3(SEMA3E):c.2034C>G (p.Val678=)	SEMA3E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023774	NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)	SEMA3E (E194Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3023283	NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3022108	NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)	SEMA3E (W673C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3021885	NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)	SEMA3E (I281V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3021466	NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)	SEMA3E (P96Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3020420	NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)	SEMA3E (R343Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3015263	NM_012431.3(SEMA3E):c.551-14A>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3015217	NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3013680	NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)	SEMA3E (S125G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3012188	NM_012431.3(SEMA3E):c.1143+15A>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3004223	NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)	SEMA3E (D569Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3002986	NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)	SEMA3E (I464V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2998341	NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2994997	NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2992853	NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)	SEMA3E (A291V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2974104	NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)	SEMA3E (R268* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GUncertain significance
Select item 2968787	NM_012431.3(SEMA3E):c.150T>C (p.His50=)	SEMA3E	Single nucleotide variant (5 prime UTR variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2963968	NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)	SEMA3E (D217N +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

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