ClinVar for MedGen (Select 370709) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 682

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233319	NM_152594.3(SPRED1):c.684G>T (p.Arg228Ser)	SPRED1 (R228S)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 3065034	NM_152594.3(SPRED1):c.205dup (p.Met69fs)	SPRED1 (M69fs)	Duplication (frameshift variant)	Legius syndrome	GUncertain significance
Select item 3024533	NM_152594.3(SPRED1):c.472C>T (p.Gln158Ter)	SPRED1 (Q158*)	Single nucleotide variant (nonsense)	Legius syndrome	GLikely pathogenic
Select item 3022147	NM_152594.3(SPRED1):c.33-14T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 3016507	NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=)	SPRED1	Indel (synonymous variant)	Legius syndrome	GUncertain significance
Select item 3015449	NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly)	SPRED1 (R185G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 3014772	NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp)	SPRED1 (E160D)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 3014255	NM_152594.3(SPRED1):c.32+9C>T	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 3005383	NM_152594.3(SPRED1):c.376+19T>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 3000567	NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)	SPRED1 (G350fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2999665	NM_152594.3(SPRED1):c.1317A>G (p.Lys439=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2997438	NM_152594.3(SPRED1):c.852A>G (p.Lys284=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2997217	NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)	SPRED1 (T7I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2995368	NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe)	SPRED1 (S411F)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2993400	NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr)	SPRED1 (C55Y)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2992101	NM_152594.3(SPRED1):c.583-15T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2987307	NM_152594.3(SPRED1):c.177del (p.Phe59fs)	SPRED1 (F59fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2986269	NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn)	SPRED1 (K289N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2968803	NM_152594.3(SPRED1):c.1206G>A (p.Leu402=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2968086	NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser)	SPRED1 (P315S)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2961774	NM_152594.3(SPRED1):c.685-17A>T	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2955689	NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala)	SPRED1 (S323A)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2955685	NM_152594.3(SPRED1):c.602G>T (p.Gly201Val)	SPRED1 (G201V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2920601	NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr)	SPRED1 (R326T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2919600	NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn)	SPRED1 (D203N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2915605	NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp)	SPRED1 (A183D)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2914367	NM_152594.3(SPRED1):c.32+3_32+6dup	SPRED1	Duplication (intron variant)	Legius syndrome	GLikely benign
Select item 2914169	NM_152594.3(SPRED1):c.423+11G>A	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2912915	NM_152594.3(SPRED1):c.574_582+14dup	SPRED1	Duplication (splice donor variant)	Legius syndrome	GUncertain significance
Select item 2911333	NM_152594.3(SPRED1):c.208-11G>A	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2911077	NM_152594.3(SPRED1):c.549C>T (p.Ala183=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2907155	NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile)	SPRED1 (M425I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2906536	NM_152594.3(SPRED1):c.548C>T (p.Ala183Val)	SPRED1 (A183V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2900459	NM_152594.3(SPRED1):c.531C>G (p.Pro177=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2900213	NM_152594.3(SPRED1):c.993A>G (p.Glu331=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GUncertain significance
Select item 2898746	NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile)	SPRED1 (V366I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2898292	NM_152594.3(SPRED1):c.582+4A>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GUncertain significance
Select item 2896031	NM_152594.3(SPRED1):c.1188C>T (p.Ser396=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2891899	NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg)	SPRED1 (G30R)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2888438	NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr)	SPRED1 (K321T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2886589	NM_152594.3(SPRED1):c.159T>C (p.Asn53=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2884830	NM_152594.3(SPRED1):c.546T>C (p.Asn182=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2878665	NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)	SPRED1 (Q189*)	Single nucleotide variant (nonsense)	Legius syndrome	GPathogenic
Select item 2865113	NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)	SPRED1 (Q240fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2856091	NM_152594.3(SPRED1):c.424-19T>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2855145	NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp)	SPRED1 (N143D)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2852812	NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro)	SPRED1 (A443P)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2852286	NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr)	SPRED1 (S150Y)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2844667	NM_152594.3(SPRED1):c.1143A>C (p.Ser381=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2841233	NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)	SPRED1	Deletion (nonsense)	Legius syndrome	GPathogenic
Select item 2838749	NM_152594.3(SPRED1):c.556G>A (p.Val186Ile)	SPRED1 (V186I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2835699	NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu)	SPRED1 (K218E)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2831812	NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)	SPRED1 (A137fs)	Duplication (frameshift variant)	Legius syndrome	GPathogenic
Select item 2830730	NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)	SPRED1 (S165fs)	Duplication (frameshift variant)	Legius syndrome	GPathogenic
Select item 2828445	NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)	SPRED1 (D9N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2825380	NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)	SPRED1 (Y14*)	Single nucleotide variant (nonsense)	Legius syndrome	GPathogenic
Select item 2821493	NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg)	SPRED1 (K321R)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2818580	NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys)	SPRED1 (Y261C)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2817829	NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser)	SPRED1 (C436S)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2805485	NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)	SPRED1 (E373*)	Single nucleotide variant (nonsense)	Legius syndrome	GPathogenic
Select item 2803686	NM_152594.3(SPRED1):c.861T>C (p.Ser287=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2801901	NM_152594.3(SPRED1):c.424-2A>T	SPRED1	Single nucleotide variant (splice acceptor variant)	Legius syndrome	GLikely pathogenic
Select item 2788351	NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly)	SPRED1 (C416G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2780543	NM_152594.3(SPRED1):c.583-8T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2777564	NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg)	SPRED1 (K46R)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2767295	NM_152594.3(SPRED1):c.423+20G>A	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2765471	NM_152594.3(SPRED1):c.753A>T (p.Arg251=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2761345	NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu)	SPRED1 (G35E)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2759487	NM_152594.3(SPRED1):c.1190A>G (p.Asp397Gly)	SPRED1 (D397G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2757562	NM_152594.3(SPRED1):c.363G>A (p.Glu121=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2756094	NM_152594.3(SPRED1):c.424-19T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2756067	NM_152594.3(SPRED1):c.376+1G>T	SPRED1	Single nucleotide variant (splice donor variant)	Legius syndrome	GLikely pathogenic
Select item 2749828	NM_152594.3(SPRED1):c.696del (p.Lys232fs)	SPRED1 (K232fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2744613	NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)	SPRED1 (P33fs)	Insertion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2742105	NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs)	SPRED1 (R424fs)	Microsatellite (frameshift variant)	Legius syndrome	GUncertain significance
Select item 2740733	NM_152594.3(SPRED1):c.872A>T (p.Asp291Val)	SPRED1 (D291V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2740441	NM_152594.3(SPRED1):c.879G>C (p.Leu293=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2738920	NM_152594.3(SPRED1):c.376+4G>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GUncertain significance
Select item 2737958	NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)	SPRED1 (R18L)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2737840	NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly)	SPRED1 (S170G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2737670	NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys)	SPRED1 (I195K)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2736415	NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr)	SPRED1 (S40T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2736171	NM_152594.3(SPRED1):c.1073del (p.Pro358fs)	SPRED1 (P358fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2725424	NM_152594.3(SPRED1):c.435G>A (p.Glu145=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2723141	NM_152594.3(SPRED1):c.208-12G>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2721394	NM_152594.3(SPRED1):c.798G>A (p.Met266Ile)	SPRED1 (M266I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2719453	NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr)	SPRED1 (I245T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2718314	NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys)	SPRED1 (G54C)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2714166	NM_152594.3(SPRED1):c.89G>T (p.Gly30Val)	SPRED1 (G30V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2705386	NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp)	SPRED1 (R349W)	Indel (missense variant)	Legius syndrome	GUncertain significance
Select item 2703160	NM_152594.3(SPRED1):c.423+19G>A	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2702911	NM_152594.3(SPRED1):c.32+18C>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2695762	NM_152594.3(SPRED1):c.1224del (p.Ala409fs)	SPRED1 (A409fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2695400	NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)	SPRED1	Insertion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2627335	NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)	SPRED1 (D270Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2587854	NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)	SPRED1 (L293V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2587853	NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)	SPRED1 (W404*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2587852	NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)	SPRED1 (A183T)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 2572233	NM_152594.3(SPRED1):c.867dup (p.Ser290fs)	SPRED1 (S290fs)	Duplication (frameshift variant)	Legius syndrome	GPathogenic/Likely pathogenic
Select item 2568300	NM_152594.3(SPRED1):c.576C>T (p.Ala192=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign

<< First< Prev

Page of 7