1366[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 821

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 2458012	NM_020385.4(REXO4):c.571G>A (p.Glu191Lys)	ADAMTS13, REXO4 (E54K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2553052	NM_020385.4(REXO4):c.523G>A (p.Glu175Lys)	ADAMTS13, REXO4 (E175K +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3153316	NM_020385.4(REXO4):c.464A>G (p.Asn155Ser)	ADAMTS13, REXO4 (N62S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345945	NM_020385.4(REXO4):c.437G>A (p.Arg146His)	ADAMTS13, REXO4 (A87T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388988	NM_020385.4(REXO4):c.359C>T (p.Pro120Leu)	ADAMTS13, REXO4 (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153314	NM_020385.4(REXO4):c.352G>A (p.Glu118Lys)	ADAMTS13, REXO4 (E118K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313837	NM_020385.4(REXO4):c.273C>G (p.Ile91Met)	ADAMTS13, REXO4 (I91M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3153313	NM_020385.4(REXO4):c.265C>T (p.Leu89Phe)	ADAMTS13, REXO4 (L89F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2461759	NM_020385.4(REXO4):c.257A>G (p.Glu86Gly)	ADAMTS13, REXO4 (E86G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2207458	NM_020385.4(REXO4):c.213G>T (p.Lys71Asn)	ADAMTS13, REXO4 (K71N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2232632	NM_020385.4(REXO4):c.207C>G (p.Asn69Lys)	ADAMTS13, REXO4 (N69K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313836	NM_020385.4(REXO4):c.164C>T (p.Ala55Val)	ADAMTS13, REXO4 (A55V)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2553446	NM_020385.4(REXO4):c.137G>T (p.Ser46Ile)	ADAMTS13, REXO4 (S46I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2273007	NM_020385.4(REXO4):c.93C>G (p.Asn31Lys)	ADAMTS13, REXO4 (N31K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3313838	NM_020385.4(REXO4):c.49G>A (p.Val17Met)	ADAMTS13, LOC130002905 +1 more (V17M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1288910	NC_000009.12:g.133421761G>A	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 365531	NM_139025.4(ADAMTS13):c.-357T>C	ADAMTS13, LOC130002909	Single nucleotide variant (genic upstream transcript variant)	Upshaw-Schulman syndrome +1 more	GBenign/Likely benign
Select item 365532	NM_139025.4(ADAMTS13):c.-280G>A	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913693	NM_139025.4(ADAMTS13):c.-168C>T	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GLikely benign
Select item 365533	NM_139025.4(ADAMTS13):c.-155C>T	ADAMTS13	Single nucleotide variant (genic upstream transcript variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 365534	NM_139027.6(ADAMTS13):c.-52C>G	ADAMTS13	Single nucleotide variant (5 prime UTR variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 913694	NM_139027.6(ADAMTS13):c.-26C>T	ADAMTS13	Single nucleotide variant (5 prime UTR variant)	Upshaw-Schulman syndrome	GUncertain significance
Select item 2176619	NM_139027.6(ADAMTS13):c.10C>T (p.Arg4Cys)	ADAMTS13 (R4C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 914089	NM_139027.6(ADAMTS13):c.15C>T (p.His5=)	ADAMTS13	Single nucleotide variant (synonymous variant)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2815335	NM_139027.6(ADAMTS13):c.22dup (p.Ala8fs)	ADAMTS13 (A8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 262432	NM_139027.6(ADAMTS13):c.19C>T (p.Arg7Trp)	ADAMTS13 (R7W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1937738	NM_139027.6(ADAMTS13):c.20G>A (p.Arg7Gln)	ADAMTS13 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928741	NM_139027.6(ADAMTS13):c.34C>T (p.Pro12Ser)	ADAMTS13 (P12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969393	NM_139027.6(ADAMTS13):c.49G>A (p.Gly17Arg)	ADAMTS13 (G17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005017	NM_139027.6(ADAMTS13):c.55C>T (p.Leu19Phe)	ADAMTS13 (L19F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2385646	NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr)	ADAMTS13 (A20T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1677266	NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter)	ADAMTS13 (W28*)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1705645	NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter)	ADAMTS13 (G29*)	Single nucleotide variant (nonsense)	Upshaw-Schulman syndrome	GPathogenic
Select item 1945769	NM_139027.6(ADAMTS13):c.105+11T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961247	NM_139027.6(ADAMTS13):c.105+20C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263439	NM_139027.6(ADAMTS13):c.106-145_106-144del	ADAMTS13	Deletion (intron variant)	not provided	GBenign
Select item 1222901	NM_139027.6(ADAMTS13):c.106-144del	ADAMTS13	Deletion (intron variant)	not provided	GBenign
Select item 2082561	NM_139027.6(ADAMTS13):c.135C>T (p.Ala45=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 914090	NM_139027.6(ADAMTS13):c.136G>A (p.Val46Met)	ADAMTS13 (V46M)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2691362	NM_139027.6(ADAMTS13):c.155del (p.Pro52fs)	ADAMTS13 (P52fs)	Deletion (frameshift variant +1 more)	Thrombotic thrombocytopenic purpura	GPathogenic
Select item 3346102	NM_139027.6(ADAMTS13):c.167T>G (p.Leu56Ter)	ADAMTS13 (L56*)	Single nucleotide variant (nonsense +1 more)	ADAMTS13-related disorder	GLikely pathogenic
Select item 1283394	NM_139027.6(ADAMTS13):c.173-211C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263626	NM_139027.6(ADAMTS13):c.173-149A>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221388	NM_139027.6(ADAMTS13):c.173-67T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262428	NM_139027.6(ADAMTS13):c.173-48G>A	ADAMTS13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2047317	NM_139027.6(ADAMTS13):c.173-14_173-3del	ADAMTS13	Deletion (intron variant)	not provided	GUncertain significance
Select item 262427	NM_139027.6(ADAMTS13):c.173-18C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2198254	NM_139027.6(ADAMTS13):c.173-7C>A	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2191204	NM_139027.6(ADAMTS13):c.173-7C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912593	NM_139027.6(ADAMTS13):c.173-6C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2076331	NM_139027.6(ADAMTS13):c.175C>T (p.Arg59Cys)	ADAMTS13 (R59C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2900542	NM_139027.6(ADAMTS13):c.176G>A (p.Arg59His)	ADAMTS13 (R59H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2408922	NM_139027.6(ADAMTS13):c.179C>T (p.Pro60Leu)	ADAMTS13 (P60L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2861473	NM_139027.6(ADAMTS13):c.185C>T (p.Ser62Phe)	ADAMTS13 (S62F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017241	NM_139027.6(ADAMTS13):c.197AGAGGC[6] (p.Arg73_Arg74insGlnArgGlnArg)	ADAMTS13	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 3147041	NM_139027.6(ADAMTS13):c.197AGAGGC[3] (p.66QR[3])	ADAMTS13	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393600	NM_139027.6(ADAMTS13):c.206G>A (p.Arg69Lys)	ADAMTS13 (R69K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 914091	NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	Upshaw-Schulman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 68811	NM_139027.6(ADAMTS13):c.237C>G (p.Ile79Met)	ADAMTS13 (I79M)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2683072	NM_139027.6(ADAMTS13):c.241C>T (p.His81Tyr)	ADAMTS13 (H81Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 68812	NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met)	ADAMTS13 (V88M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3004984	NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5820	NM_139027.6(ADAMTS13):c.291_319del (p.Glu98fs)	ADAMTS13 (E98fs)	Deletion (frameshift variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 5798	NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp)	ADAMTS13 (H96D)	Single nucleotide variant (non-coding transcript variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 810462	NM_139027.6(ADAMTS13):c.290A>G (p.Gln97Arg)	ADAMTS13 (Q97R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715265	NM_139027.6(ADAMTS13):c.295G>A (p.Asp99Asn)	ADAMTS13 (D99N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901841	NM_139027.6(ADAMTS13):c.297C>T (p.Asp99=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5800	NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys)	ADAMTS13 (R102C)	Single nucleotide variant (non-coding transcript variant +1 more)	Upshaw-Schulman syndrome	GPathogenic
Select item 2683660	NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His)	ADAMTS13 (R102H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1468608	NM_139027.6(ADAMTS13):c.330C>T (p.Ile110=)	ADAMTS13	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 632036	NM_139027.6(ADAMTS13):c.330+1G>A	ADAMTS13	Single nucleotide variant (splice donor variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 1179187	NM_139027.6(ADAMTS13):c.330+2T>C	ADAMTS13	Single nucleotide variant (splice donor variant)	Upshaw-Schulman syndrome	GLikely pathogenic
Select item 3030855	NM_139027.6(ADAMTS13):c.330+8C>T	ADAMTS13	Single nucleotide variant (intron variant)	ADAMTS13-related disorder	GLikely benign
Select item 2769918	NM_139027.6(ADAMTS13):c.330+10C>T	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641920	NM_139027.6(ADAMTS13):c.330+13C>G	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268106	NM_139027.6(ADAMTS13):c.331-42T>C	ADAMTS13	Single nucleotide variant (intron variant)	not provided	GBenign

<< First< Prev

Page of 9