ClinVar for Gene (Select 161742) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381124	NM_152594.3(SPRED1):c.468_469insGA (p.Phe157fs)	SPRED1 (F157fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3376560	NM_152594.3(SPRED1):c.413_414dup (p.Asp139fs)	SPRED1 (D139fs)	Duplication (frameshift variant)	Legius syndrome	GPathogenic
Select item 3367480	NM_152594.3(SPRED1):c.1292_1293dup (p.Ala432fs)	SPRED1 (A432fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3362511	NM_152594.3(SPRED1):c.1A>T (p.Met1Leu)	SPRED1 (M1L)	Single nucleotide variant (missense variant +1 more)	Legius syndrome	GLikely pathogenic
Select item 3361129	NM_152594.3(SPRED1):c.836_837delinsTA (p.Ser279Ile)	SPRED1 (S279I)	Indel (missense variant)	not provided	GUncertain significance
Select item 3343473	NM_152594.3(SPRED1):c.1229T>C (p.Leu410Ser)	SPRED1 (L410S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341115	NM_152594.3(SPRED1):c.981del (p.Glu328fs)	SPRED1 (E328fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3341029	NM_152594.3(SPRED1):c.858C>G (p.Asp286Glu)	SPRED1 (D286E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340783	NM_152594.3(SPRED1):c.91T>A (p.Trp31Arg)	SPRED1 (W31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337769	NM_152594.3(SPRED1):c.1139_1140insCATGTAT (p.Met380fs)	SPRED1 (M380fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337631	NM_152594.3(SPRED1):c.42T>A (p.Tyr14Ter)	SPRED1 (Y14*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3322362	NM_152594.3(SPRED1):c.175T>C (p.Phe59Leu)	SPRED1 (F59L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3322361	NM_152594.3(SPRED1):c.160G>A (p.Gly54Ser)	SPRED1 (G54S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3322360	NM_152594.3(SPRED1):c.109A>G (p.Ser37Gly)	SPRED1 (S37G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3322359	NM_152594.3(SPRED1):c.1017G>T (p.Gln339His)	SPRED1 (Q339H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3322358	NM_152594.3(SPRED1):c.972A>G (p.Lys324=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3322357	NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)	SPRED1 (P285A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3250378	NM_152594.3(SPRED1):c.700dup (p.Ile234fs)	SPRED1 (I234fs)	Duplication (frameshift variant)	Legius syndrome	GLikely pathogenic
Select item 3248543	NM_152594.3(SPRED1):c.32+2T>C	SPRED1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3243876	NC_000015.9:g.(?_38545387)_(40293445_?)dup	EIF2AK4, FAM98B +7 more	Duplication	not provided	GUncertain significance
Select item 3243809	NC_000015.9:g.(?_38545387)_(38643865_?)dup	SPRED1	Duplication	Legius syndrome	GUncertain significance
Select item 3243808	NC_000015.9:g.(?_38591564)_(38632106_?)del	SPRED1	Deletion	Legius syndrome	GPathogenic
Select item 3243807	NC_000015.9:g.(?_38545387)_(38591768_?)del	SPRED1	Deletion	Legius syndrome	GPathogenic
Select item 3243806	NC_000015.9:g.(?_38591564)_(38591758_?)del	SPRED1	Deletion	Legius syndrome	GPathogenic
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3242203	NM_152594.3(SPRED1):c.359T>C (p.Ile120Thr)	SPRED1 (I120T)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 3239624	GRCh37/hg19 15q14(chr15:38556565-38591748)x1	SPRED1	Copy number loss	not provided	GPathogenic
Select item 3234678	NM_152594.3(SPRED1):c.886T>A (p.Cys296Ser)	SPRED1 (C296S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3229271	NM_152594.3(SPRED1):c.860G>A (p.Ser287Asn)	SPRED1 (S287N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229270	NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly)	SPRED1 (D138G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229269	NM_152594.3(SPRED1):c.388T>C (p.Ser130Pro)	SPRED1 (S130P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229268	NM_152594.3(SPRED1):c.374A>G (p.Gln125Arg)	SPRED1 (Q125R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229267	NM_152594.3(SPRED1):c.255C>T (p.Val85=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229266	NM_152594.3(SPRED1):c.242T>C (p.Ile81Thr)	SPRED1 (I81T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3229265	NM_152594.3(SPRED1):c.1242A>G (p.Val414=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3229264	NM_152594.3(SPRED1):c.1023G>C (p.Arg341Ser)	SPRED1 (R341S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3169363	NM_152594.3(SPRED1):c.721G>C (p.Asp241His)	SPRED1 (D241H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3065034	NM_152594.3(SPRED1):c.205dup (p.Met69fs)	SPRED1 (M69fs)	Duplication (frameshift variant)	Legius syndrome	GUncertain significance
Select item 3063382	GRCh37/hg19 15q14(chr15:38113389-38563791)x3	SPRED1, TMCO5A	Copy number gain	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 3025660	NM_152594.3(SPRED1):c.183T>G (p.Arg61=)	SPRED1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 +1 more	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 +1 more	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

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