ClinVar for Gene (Select 10512) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358846	NM_006379.5(SEMA3C):c.286A>G (p.Ile96Val)	SEMA3C (I114V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3358671	NM_006379.5(SEMA3C):c.1358G>A (p.Arg453Gln)	SEMA3C (R395Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3358536	NM_006379.5(SEMA3C):c.980C>T (p.Thr327Ile)	SEMA3C (T269I +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3358434	NM_006379.5(SEMA3C):c.448-8C>T	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3358023	NM_006379.5(SEMA3C):c.1139GAG[1] (p.Gly381del)	SEMA3C (G323del +2 more)	Microsatellite (inframe_deletion)	SEMA3C-related disorder	GUncertain significance
Select item 3357838	NM_006379.5(SEMA3C):c.872C>T (p.Ser291Leu)	SEMA3C (S233L +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357789	NM_006379.5(SEMA3C):c.1989T>C (p.Asp663=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3357710	NM_006379.5(SEMA3C):c.408T>C (p.Ser136=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3357708	NM_006379.5(SEMA3C):c.1145C>T (p.Ala382Val)	SEMA3C (A324V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357698	NM_006379.5(SEMA3C):c.27_28delinsTT (p.Leu9_Val10delinsPhePhe)	SEMA3C	Indel (missense variant +1 more)	SEMA3C-related disorder	GUncertain significance
Select item 3357458	NM_006379.5(SEMA3C):c.1120C>T (p.Arg374Cys)	SEMA3C (R316C +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357438	NM_006379.5(SEMA3C):c.1642C>T (p.Arg548Trp)	SEMA3C (R490W +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357417	NM_006379.5(SEMA3C):c.440G>A (p.Arg147Lys)	SEMA3C (R147K +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357389	NM_006379.5(SEMA3C):c.1852A>G (p.Asn618Asp)	SEMA3C (N560D +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357296	NM_006379.5(SEMA3C):c.915A>C (p.Leu305Phe)	SEMA3C (L247F +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3357238	NM_006379.5(SEMA3C):c.2139G>A (p.Arg713=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3357224	NM_006379.5(SEMA3C):c.802-9T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3357137	NM_006379.5(SEMA3C):c.986+4A>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3357105	NM_006379.5(SEMA3C):c.153T>G (p.Pro51=)	SEMA3C	Single nucleotide variant (synonymous variant +1 more)	SEMA3C-related disorder	GLikely benign
Select item 3357057	NM_006379.5(SEMA3C):c.1190T>C (p.Val397Ala)	SEMA3C (V339A +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3356923	NM_006379.5(SEMA3C):c.945C>A (p.Asn315Lys)	SEMA3C (N257K +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3356750	NM_006379.5(SEMA3C):c.1651C>T (p.Arg551Ter)	SEMA3C (R493* +2 more)	Single nucleotide variant (nonsense)	SEMA3C-related disorder	GUncertain significance
Select item 3356724	NM_001350120.2(SEMA3C):c.16+10A>T	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3356632	NM_006379.5(SEMA3C):c.1392T>C (p.Thr464=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3356173	NM_006379.5(SEMA3C):c.-38-4A>T	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3356148	NM_006379.5(SEMA3C):c.291A>G (p.Lys97=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3355932	NM_006379.5(SEMA3C):c.2088A>G (p.Ala696=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3355819	NM_006379.5(SEMA3C):c.539-4A>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3355778	NM_006379.5(SEMA3C):c.910G>T (p.Glu304Ter)	SEMA3C (E246* +2 more)	Single nucleotide variant (nonsense)	SEMA3C-related disorder	GUncertain significance
Select item 3355703	NM_006379.5(SEMA3C):c.104-3C>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GUncertain significance
Select item 3355509	NM_006379.5(SEMA3C):c.719T>C (p.Val240Ala)	SEMA3C (V182A +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3355376	NM_006379.5(SEMA3C):c.2070G>A (p.Pro690=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3355341	NM_006379.5(SEMA3C):c.1132-9T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3355228	NM_006379.5(SEMA3C):c.563A>G (p.Tyr188Cys)	SEMA3C (Y130C +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3355187	NM_006379.5(SEMA3C):c.448-7A>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3355157	NM_006379.5(SEMA3C):c.21C>T (p.Cys7=)	SEMA3C	Single nucleotide variant (synonymous variant +1 more)	SEMA3C-related disorder	GLikely benign
Select item 3354936	NM_006379.5(SEMA3C):c.2137C>G (p.Arg713Gly)	SEMA3C (R731G +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3354845	NM_006379.5(SEMA3C):c.1362T>C (p.Gly454=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3354794	NM_006379.5(SEMA3C):c.1580C>T (p.Ala527Val)	SEMA3C (A469V +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3354780	NM_006379.5(SEMA3C):c.264+9A>T	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3354728	NM_006379.5(SEMA3C):c.1892G>A (p.Arg631His)	SEMA3C (R573H +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3354582	NM_006379.5(SEMA3C):c.865G>C (p.Val289Leu)	SEMA3C (V231L +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3354527	NM_006379.5(SEMA3C):c.959T>C (p.Leu320Pro)	SEMA3C (L262P +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3354507	NM_006379.5(SEMA3C):c.1284G>A (p.Lys428=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3354433	NM_006379.5(SEMA3C):c.1705C>T (p.Leu569=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3354324	NM_006379.5(SEMA3C):c.11G>A (p.Arg4Gln)	SEMA3C (R22Q +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3C-related disorder	GUncertain significance
Select item 3354322	NM_006379.5(SEMA3C):c.368A>G (p.Asn123Ser)	SEMA3C (N123S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3353814	NM_006379.5(SEMA3C):c.2129A>G (p.Lys710Arg)	SEMA3C (K652R +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3353447	NM_006379.5(SEMA3C):c.1307G>A (p.Arg436Gln)	SEMA3C (R378Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3353374	NM_006379.5(SEMA3C):c.370C>T (p.Arg124Cys)	SEMA3C (R124C +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3353293	NM_006379.5(SEMA3C):c.2229C>T (p.Asn743=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3352410	NM_006379.5(SEMA3C):c.194G>A (p.Arg65Gln)	SEMA3C (R65Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3352395	NM_006379.5(SEMA3C):c.1261G>T (p.Val421Phe)	SEMA3C (V363F +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3352247	NM_006379.5(SEMA3C):c.1204C>T (p.Arg402Trp)	SEMA3C (R344W +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3352246	NM_006379.5(SEMA3C):c.2137C>T (p.Arg713Trp)	SEMA3C (R655W +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3352178	NM_001350120.2(SEMA3C):c.10A>C (p.Lys4Gln)	SEMA3C (K4Q)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351986	NM_006379.5(SEMA3C):c.889G>A (p.Gly297Ser)	SEMA3C (G239S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351685	NM_006379.5(SEMA3C):c.1177T>A (p.Phe393Ile)	SEMA3C (F335I +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351684	NM_006379.5(SEMA3C):c.521C>T (p.Thr174Met)	SEMA3C (T116M +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351533	NM_006379.5(SEMA3C):c.330C>A (p.His110Gln)	SEMA3C (H110Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351363	NM_006379.5(SEMA3C):c.74C>T (p.Pro25Leu)	SEMA3C (P25L +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3C-related disorder	GUncertain significance
Select item 3351330	NM_006379.5(SEMA3C):c.95C>T (p.Thr32Ile)	SEMA3C (T32I +1 more)	Single nucleotide variant (missense variant +1 more)	SEMA3C-related disorder	GUncertain significance
Select item 3351173	NM_006379.5(SEMA3C):c.666G>C (p.Met222Ile)	SEMA3C (M164I +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351156	NM_006379.5(SEMA3C):c.1740G>C (p.Gln580His)	SEMA3C (Q522H +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3351148	NM_006379.5(SEMA3C):c.1292A>T (p.Lys431Met)	SEMA3C (K373M +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3350995	NM_006379.5(SEMA3C):c.1279_1281del (p.Tyr427del)	SEMA3C (Y369del +2 more)	Deletion (inframe_deletion)	SEMA3C-related disorder	GUncertain significance
Select item 3350685	NM_006379.5(SEMA3C):c.264+8T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3350269	NM_006379.5(SEMA3C):c.435GAG[1] (p.Arg147del)	SEMA3C (R147del +2 more)	Microsatellite (inframe_deletion)	SEMA3C-related disorder	GUncertain significance
Select item 3350056	NM_006379.5(SEMA3C):c.434G>C (p.Gly145Ala)	SEMA3C (G145A +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3350030	NM_006379.5(SEMA3C):c.567A>G (p.Ile189Met)	SEMA3C (I131M +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3349973	NM_006379.5(SEMA3C):c.2149C>T (p.Gln717Ter)	SEMA3C (Q659* +2 more)	Single nucleotide variant (nonsense)	SEMA3C-related disorder	GUncertain significance
Select item 3349925	NM_006379.5(SEMA3C):c.1508A>G (p.Asn503Ser)	SEMA3C (N445S +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3349628	NM_006379.5(SEMA3C):c.2249_2250del (p.Glu750fs)	SEMA3C (E692fs +2 more)	Microsatellite (frameshift variant)	SEMA3C-related disorder	GUncertain significance
Select item 3349507	NM_006379.5(SEMA3C):c.448-9A>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3348985	NM_006379.5(SEMA3C):c.986+6T>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3348899	NM_006379.5(SEMA3C):c.929T>C (p.Leu310Pro)	SEMA3C (L252P +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3348861	NM_006379.5(SEMA3C):c.821G>A (p.Arg274His)	SEMA3C (R216H +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3348674	NM_006379.5(SEMA3C):c.1334A>G (p.His445Arg)	SEMA3C (H387R +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3348558	NM_006379.5(SEMA3C):c.976A>G (p.Thr326Ala)	SEMA3C (T268A +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3348516	NM_006379.5(SEMA3C):c.734A>C (p.Lys245Thr)	SEMA3C (K187T +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3348498	NM_006379.5(SEMA3C):c.538+8G>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3348244	NM_006379.5(SEMA3C):c.1443+10T>C	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3348208	NM_006379.5(SEMA3C):c.952ACA[1] (p.Thr319del)	SEMA3C (T261del +2 more)	Microsatellite (inframe_deletion)	SEMA3C-related disorder	GUncertain significance
Select item 3348126	NM_006379.5(SEMA3C):c.1746A>C (p.Gly582=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3348083	NM_006379.5(SEMA3C):c.1289C>G (p.Thr430Arg)	SEMA3C (T372R +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3346736	NM_006379.5(SEMA3C):c.1596C>G (p.Cys532Trp)	SEMA3C (C474W +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3346450	NM_006379.5(SEMA3C):c.1619C>G (p.Ser540Cys)	SEMA3C (S482C +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3346395	NM_006379.5(SEMA3C):c.658+3A>G	SEMA3C	Single nucleotide variant (intron variant)	SEMA3C-related disorder	GLikely benign
Select item 3346096	NM_006379.5(SEMA3C):c.1320T>A (p.Ala440=)	SEMA3C	Single nucleotide variant (synonymous variant)	SEMA3C-related disorder	GLikely benign
Select item 3345860	NM_006379.5(SEMA3C):c.2021G>T (p.Trp674Leu)	SEMA3C (W616L +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3344727	NM_006379.5(SEMA3C):c.1181C>A (p.Pro394Gln)	SEMA3C (P336Q +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3344366	NM_006379.5(SEMA3C):c.640A>G (p.Asn214Asp)	SEMA3C (N156D +2 more)	Single nucleotide variant (missense variant)	SEMA3C-related disorder	GUncertain significance
Select item 3317286	NM_006379.5(SEMA3C):c.742C>A (p.Leu248Met)	SEMA3C (L190M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317285	NM_006379.5(SEMA3C):c.449A>G (p.Asp150Gly)	SEMA3C (D92G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317284	NM_006379.5(SEMA3C):c.44G>T (p.Cys15Phe)	SEMA3C (C33F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317283	NM_006379.5(SEMA3C):c.1513G>T (p.Gly505Trp)	SEMA3C (G447W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317282	NM_006379.5(SEMA3C):c.1231A>G (p.Ile411Val)	SEMA3C (I429V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317281	NM_006379.5(SEMA3C):c.947C>T (p.Pro316Leu)	SEMA3C (P258L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233345	NM_006379.5(SEMA3C):c.1711+3A>T	SEMA3C	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 3159710	NM_006379.5(SEMA3C):c.359A>G (p.Gln120Arg)	SEMA3C (Q138R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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