30832[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 362050	NM_001160372.4(TRAPPC9):c.*677T>C	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 362051	NM_001160372.4(TRAPPC9):c.*576G>A	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 362052	NM_001160372.4(TRAPPC9):c.*532G>A	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362053	NM_001160372.4(TRAPPC9):c.*375C>T	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GLikely benign
Select item 362054	NM_001160372.4(TRAPPC9):c.*331C>T	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 362055	NM_001160372.4(TRAPPC9):c.*285A>C	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 362056	NM_001160372.4(TRAPPC9):c.*181G>A	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 1216061	NM_001160372.4(TRAPPC9):c.*165G>C	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 362057	NM_001160372.4(TRAPPC9):c.*104C>T	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 362058	NM_001160372.4(TRAPPC9):c.*80G>C	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 362059	NM_001160372.4(TRAPPC9):c.*65C>G	TRAPPC9	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual Disability, Recessive	GUncertain significance
Select item 3336221	NM_001160372.4(TRAPPC9):c.3443C>A (p.Ala1148Asp)	TRAPPC9 (A1100D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758433	NM_001160372.4(TRAPPC9):c.3438G>A (p.Ala1146=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1482005	NM_001160372.4(TRAPPC9):c.3437C>T (p.Ala1146Val)	TRAPPC9 (A1109V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116670	NM_001160372.4(TRAPPC9):c.3436G>C (p.Ala1146Pro)	TRAPPC9 (A1153P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 587938	NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)	TRAPPC9 (V1141M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1734230	NM_001160372.4(TRAPPC9):c.3420C>T (p.His1140=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 362060	NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)	TRAPPC9 (S1138R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 362061	NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1497592	NM_001160372.4(TRAPPC9):c.3405C>A (p.Cys1135Ter)	TRAPPC9 (C1098* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1489295	NM_001160372.4(TRAPPC9):c.3400T>A (p.Phe1134Ile)	TRAPPC9 (F1086I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130618	NM_001160372.4(TRAPPC9):c.3390A>C (p.Pro1130=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1438414	NM_001160372.4(TRAPPC9):c.3386T>C (p.Leu1129Pro)	TRAPPC9 (L1092P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 218812	NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys)	TRAPPC9 (E1122K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1627364	NM_001160372.4(TRAPPC9):c.3363C>T (p.His1121=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437021	NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)	TRAPPC9 (R1119Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2769022	NM_001160372.4(TRAPPC9):c.3351C>T (p.His1117=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2732015	NM_001160372.4(TRAPPC9):c.3347T>C (p.Leu1116Pro)	TRAPPC9 (L1068P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 437022	NM_001160372.4(TRAPPC9):c.3325C>A (p.Leu1109Ile)	TRAPPC9 (L1109I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2084563	NM_001160372.4(TRAPPC9):c.3324C>T (p.Phe1108=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1629703	NM_001160372.4(TRAPPC9):c.3318C>T (p.Leu1106=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1915858	NM_001160372.4(TRAPPC9):c.3310G>A (p.Gly1104Arg)	TRAPPC9 (G1056R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 733502	NM_001160372.4(TRAPPC9):c.3300G>A (p.Ser1100=)	TRAPPC9	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1988112	NM_001160372.4(TRAPPC9):c.3292G>A (p.Gly1098Ser)	TRAPPC9 (G1061S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 212434	NM_001160372.4(TRAPPC9):c.3292G>C (p.Gly1098Arg)	TRAPPC9 (G1098R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 362062	NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual Disability, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 362063	NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3328552	NM_001160372.4(TRAPPC9):c.3287C>T (p.Pro1096Leu)	TRAPPC9 (P1048L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 908694	NM_001160372.4(TRAPPC9):c.3280-8C>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1206509	NM_001160372.4(TRAPPC9):c.3280-134G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252871	NM_001160372.4(TRAPPC9):c.3280-146C>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249786	NM_001160372.4(TRAPPC9):c.3280-292C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211440	NM_001160372.4(TRAPPC9):c.3279+341G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181725	NM_001160372.4(TRAPPC9):c.3279+213C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217538	NM_001160372.4(TRAPPC9):c.3279+21C>T	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990165	NM_001160372.4(TRAPPC9):c.3279+17A>G	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1353551	NM_001160372.4(TRAPPC9):c.3279+5G>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2115233	NM_001160372.4(TRAPPC9):c.3279+4C>A	TRAPPC9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 130633	NM_001160372.4(TRAPPC9):c.3279+4C>T	TRAPPC9	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 13 +2 more	GBenign/Likely benign
Select item 1686272	NM_001160372.4(TRAPPC9):c.3279+1G>A	TRAPPC9	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 13	GPathogenic
Select item 212433	NM_001160372.4(TRAPPC9):c.3278C>T (p.Ala1093Val)	TRAPPC9 (A1093V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1732795	NM_001160372.4(TRAPPC9):c.3276C>T (p.Asp1092=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1994026	NM_001160372.4(TRAPPC9):c.3273C>G (p.Leu1091=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1905410	NM_001160372.4(TRAPPC9):c.3273C>T (p.Leu1091=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1059126	NM_001160372.4(TRAPPC9):c.3272T>G (p.Leu1091Arg)	TRAPPC9 (L1043R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2325122	NM_001160372.4(TRAPPC9):c.3257C>T (p.Ser1086Phe)	TRAPPC9 (S1049F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1878672	NM_001160372.4(TRAPPC9):c.3257C>G (p.Ser1086Cys)	TRAPPC9 (S1049C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3237513	NM_001160372.4(TRAPPC9):c.3250G>A (p.Val1084Met)	TRAPPC9 (V1036M +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 13	GUncertain significance
Select item 1732498	NM_001160372.4(TRAPPC9):c.3249C>G (p.Phe1083Leu)	TRAPPC9 (F1074L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 130632	NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual Disability, Recessive +3 more	GConflicting classifications of pathogenicity
Select item 437048	NM_001160372.4(TRAPPC9):c.3241G>A (p.Val1081Ile)	TRAPPC9 (V1081I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1711683	NM_001160372.4(TRAPPC9):c.3240C>T (p.Thr1080=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 437023	NM_001160372.4(TRAPPC9):c.3237C>T (p.Asp1079=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 589347	NM_001160372.4(TRAPPC9):c.3225C>A (p.Tyr1075Ter)	TRAPPC9 (Y1075* +4 more)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 504118	NM_001160372.4(TRAPPC9):c.3220_3225delinsGACTAA (p.Asn1074_Tyr1075delinsAspTer)	TRAPPC9	Indel (nonsense +1 more)	not provided	GPathogenic
Select item 130631	NM_001160372.4(TRAPPC9):c.3225C>T (p.Tyr1075=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	Intellectual Disability, Recessive +2 more	GBenign/Likely benign
Select item 589348	NM_001160372.4(TRAPPC9):c.3220A>G (p.Asn1074Asp)	TRAPPC9 (N1074D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1450465	NM_001160372.4(TRAPPC9):c.3219C>G (p.His1073Gln)	TRAPPC9 (H1073Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1336085	NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)	TRAPPC9 (H1025Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2148878	NM_001160372.4(TRAPPC9):c.3214G>A (p.Val1072Met)	TRAPPC9 (V1024M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 724562	NM_001160372.4(TRAPPC9):c.3213C>T (p.Gly1071=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437024	NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)	TRAPPC9 (G1071S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2160675	NM_001160372.4(TRAPPC9):c.3210C>T (p.Asn1070=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934066	NM_001160372.4(TRAPPC9):c.3204C>G (p.His1068Gln)	TRAPPC9 (H1031Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1954643	NM_001160372.4(TRAPPC9):c.3199G>A (p.Asp1067Asn)	TRAPPC9 (D1019N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 212432	NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)	TRAPPC9 (A1059T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2069343	NM_001160372.4(TRAPPC9):c.3174C>T (p.Phe1058=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437025	NM_001160372.4(TRAPPC9):c.3168G>A (p.Gly1056=)	TRAPPC9	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign

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