81624[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 154393	GRCh38/hg38 13q21.1-21.31(chr13:55851510-63770251)x1	LINC00358, LINC00374 +50 more	Copy number loss	See cases	GUncertain significance
Select item 1282927	NM_001042517.2(DIAPH3):c.*226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1225244	NM_001042517.2(DIAPH3):c.225_226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1178019	NM_001042517.2(DIAPH3):c.224_226dup	DIAPH3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1239594	NM_001042517.2(DIAPH3):c.*147T>A	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1195612	NM_001042517.2(DIAPH3):c.*23A>T	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1231569	NM_001042517.2(DIAPH3):c.*16A>T	DIAPH3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2072750	NM_001042517.2(DIAPH3):c.3579A>G (p.Leu1193=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383784	NM_001042517.2(DIAPH3):c.3572G>A (p.Arg1191Gln)	DIAPH3 (R1180Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 285604	NM_001042517.2(DIAPH3):c.3571C>T (p.Arg1191Ter)	DIAPH3 (R1191* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2211101	NM_001042517.2(DIAPH3):c.3565A>G (p.Arg1189Gly)	DIAPH3 (R1189G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504360	NM_001042517.2(DIAPH3):c.3543dup (p.Glu1182fs)	DIAPH3 (E1136fs +3 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2844056	NM_001042517.2(DIAPH3):c.3534A>G (p.Glu1178=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643831	NM_001042517.2(DIAPH3):c.3516C>T (p.Gly1172=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807028	NM_001042517.2(DIAPH3):c.3504G>A (p.Thr1168=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907354	NM_001042517.2(DIAPH3):c.3497del (p.Lys1166fs)	DIAPH3 (K1096fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2081607	NM_001042517.2(DIAPH3):c.3477T>C (p.Asn1159=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2330223	NM_001042517.2(DIAPH3):c.3476A>C (p.Asn1159Thr)	DIAPH3 (N1113T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1313654	NM_001042517.2(DIAPH3):c.3472T>C (p.Cys1158Arg)	DIAPH3 (C1088R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517828	NM_001042517.2(DIAPH3):c.3471G>A (p.Ala1157=)	DIAPH3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1549569	NM_001042517.2(DIAPH3):c.3470C>T (p.Ala1157Val)	DIAPH3 (A1087V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2965723	NM_001042517.2(DIAPH3):c.3439G>A (p.Gly1147Arg)	DIAPH3 (G1101R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716570	NM_001042517.2(DIAPH3):c.3435T>C (p.Ser1145=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2491871	NM_001042517.2(DIAPH3):c.3428A>G (p.His1143Arg)	DIAPH3 (H1073R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372432	NM_001042517.2(DIAPH3):c.3416A>G (p.Asn1139Ser)	DIAPH3 (N1093S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1189868	NM_001042517.2(DIAPH3):c.3397G>A (p.Ala1133Thr)	DIAPH3 (A1063T +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2488025	NM_001042517.2(DIAPH3):c.3389C>G (p.Thr1130Ser)	DIAPH3 (T1084S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2905692	NM_001042517.2(DIAPH3):c.3387G>A (p.Arg1129=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2476361	NM_001042517.2(DIAPH3):c.3371A>G (p.Asn1124Ser)	DIAPH3 (N1124S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1719701	NM_001042517.2(DIAPH3):c.3371A>T (p.Asn1124Ile)	DIAPH3 (N1054I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915046	NM_001042517.2(DIAPH3):c.3365A>G (p.Asn1122Ser)	DIAPH3 (N1076S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1208227	NM_001042517.2(DIAPH3):c.3352C>T (p.Arg1118Cys)	DIAPH3 (R1048C +3 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2789397	NM_001042517.2(DIAPH3):c.3340A>G (p.Thr1114Ala)	DIAPH3 (T1103A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517823	NM_001042517.2(DIAPH3):c.3339G>A (p.Leu1113=)	DIAPH3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1387634	NM_001042517.2(DIAPH3):c.3320-3T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1557780	NM_001042517.2(DIAPH3):c.3320-16T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230387	NM_001042517.2(DIAPH3):c.3319+314G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233225	NM_001042517.2(DIAPH3):c.3319+177_3319+179del	DIAPH3	Microsatellite (intron variant)	not provided	GBenign
Select item 1203108	NM_001042517.2(DIAPH3):c.3319+56A>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194990	NM_001042517.2(DIAPH3):c.3319+43T>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544415	NM_001042517.2(DIAPH3):c.3319+11G>A	DIAPH3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1195362	NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val)	DIAPH3 (M1025V +4 more)	Single nucleotide variant (missense variant)	DIAPH3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2916662	NM_001042517.2(DIAPH3):c.3278_3279delinsTG (p.Ser1093Met)	DIAPH3 (S1047M +4 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2421307	NM_001042517.2(DIAPH3):c.3266G>C (p.Arg1089Pro)	DIAPH3 (R1019P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393230	NM_001042517.2(DIAPH3):c.3266G>A (p.Arg1089Gln)	DIAPH3 (R1019Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686623	NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp)	DIAPH3 (R1019W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1306148	NM_001042517.2(DIAPH3):c.3260-1G>A	DIAPH3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1598983	NM_001042517.2(DIAPH3):c.3260-6dup	DIAPH3	Duplication (intron variant)	not provided	GBenign
Select item 770993	NM_001042517.2(DIAPH3):c.3260-6del	DIAPH3	Deletion (intron variant)	not provided	GBenign
Select item 1200459	NM_001042517.2(DIAPH3):c.3260-12T>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959909	NM_001042517.2(DIAPH3):c.3260-17A>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683463	NM_001042517.2(DIAPH3):c.3260-76G>C	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994785	NM_001042517.2(DIAPH3):c.3248C>T (p.Pro1083Leu)	DIAPH3 (P1013L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3271959	NM_001042517.2(DIAPH3):c.3229G>A (p.Asp1077Asn)	DIAPH3 (D1031N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 391599	NM_001042517.2(DIAPH3):c.3227G>A (p.Arg1076His)	DIAPH3 (R1076H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 735256	NM_001042517.2(DIAPH3):c.3226C>T (p.Arg1076Cys)	DIAPH3 (R1006C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3082372	NM_001042517.2(DIAPH3):c.3218C>A (p.Ala1073Asp)	DIAPH3 (A1062D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2140183	NM_001042517.2(DIAPH3):c.3208del (p.Gln1070fs)	DIAPH3 (Q1059fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2407272	NM_001042517.2(DIAPH3):c.3187G>A (p.Asp1063Asn)	DIAPH3 (D993N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1326768	NM_001042517.2(DIAPH3):c.3167G>C (p.Gly1056Ala)	DIAPH3 (G1010A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909842	NM_001042517.2(DIAPH3):c.3164-12C>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926066	NM_001042517.2(DIAPH3):c.3164-16G>T	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823249	NM_001042517.2(DIAPH3):c.3164-18C>G	DIAPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225050	NM_001042517.2(DIAPH3):c.3164-217G>A	DIAPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2191099	NM_001042517.2(DIAPH3):c.3150A>G (p.Leu1050=)	DIAPH3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2440786	NM_001042517.2(DIAPH3):c.3142C>T (p.Arg1048Cys)	DIAPH3 (R1002C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326089	NM_001042517.2(DIAPH3):c.3142C>G (p.Arg1048Gly)	DIAPH3 (R1002G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513296	NM_001042517.2(DIAPH3):c.3131A>G (p.Gln1044Arg)	DIAPH3 (Q1044R +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2756762	NM_001042517.2(DIAPH3):c.3130C>G (p.Gln1044Glu)	DIAPH3 (Q781E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546124	NM_001042517.2(DIAPH3):c.3125G>A (p.Arg1042His)	DIAPH3 (R1042H +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 680047	NM_001042517.2(DIAPH3):c.3124C>T (p.Arg1042Cys)	DIAPH3 (R779C +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity

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