7074[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 205

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	NCAM2, NDUFV3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	PDE9A-AS1, PDXK +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	LOC130066843, LOC130066844 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653343, LOC126653344 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LINC00315, LINC00316 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	ATP5PF, ATP5PO +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653350, LOC126653351 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LINC00111, LINC00112 +1160 more	Copy number gain	See cases	GPathogenic
Select item 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	ADAMTS1, ADAMTS5 +643 more	Copy number loss	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	TSPEAR-AS1, TSPEAR-AS2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066578, LOC130066579 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	LOC126653316, LOC126653317 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	LOC130066717, LOC130066718 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC125418051, LOC125418052 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	HSF2BP, HSPA13 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LOC130066756, LOC130066757 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	KRTAP12-3, KRTAP12-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC107403153, LOC107548109 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SON, SPATC1L +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066735, LOC130066736 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154063	GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1	ADAMTS1, ADAMTS5 +213 more	Copy number loss	See cases	GPathogenic
Select item 236547	GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347)	CCT8, CLDN17 +215 more	Copy number loss	Monosomy 21	GPathogenic
Select item 3034617	NM_001353694.2(TIAM1):c.4705G>A (p.Ala1569Thr)	TIAM1 (A1544T +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GLikely benign
Select item 2346256	NM_001353694.2(TIAM1):c.4640C>T (p.Ala1547Val)	TIAM1 (A1547V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693481	NM_001353694.2(TIAM1):c.4640C>A (p.Ala1547Glu)	TIAM1 (A1522E +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 2607570	NM_001353694.2(TIAM1):c.4582C>A (p.Leu1528Ile)	TIAM1 (L536I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276528	NM_001353694.2(TIAM1):c.4580G>A (p.Arg1527Gln)	TIAM1 (R1502Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224685	NM_001353694.2(TIAM1):c.4543G>A (p.Val1515Met)	TIAM1 (V548M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233129	NM_001353694.2(TIAM1):c.4522G>A (p.Asp1508Asn)	TIAM1 (D1483N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177312	NM_001353694.2(TIAM1):c.4444C>G (p.Arg1482Gly)	TIAM1 (R1457G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059045	NM_001353694.2(TIAM1):c.4431T>C (p.Gly1477=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 2632927	NM_001353694.2(TIAM1):c.4425dup (p.Gly1476fs)	TIAM1 (G1451fs +3 more)	Duplication (frameshift variant)	TIAM1-related disorder	GUncertain significance
Select item 3042023	NM_001353694.2(TIAM1):c.4406A>G (p.Lys1469Arg)	TIAM1 (K1444R +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 2237728	NM_001353694.2(TIAM1):c.4400C>T (p.Pro1467Leu)	TIAM1 (P1442L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177311	NM_001353694.2(TIAM1):c.4384G>A (p.Val1462Ile)	TIAM1 (V1462I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781507	NM_001353694.2(TIAM1):c.4359C>T (p.Asn1453=)	TIAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2288891	NM_001353694.2(TIAM1):c.4355G>A (p.Arg1452Gln)	TIAM1 (R460Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652582	NM_001353694.2(TIAM1):c.4306+20G>A	TIAM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3177309	NM_001353694.2(TIAM1):c.4299C>G (p.Ser1433Arg)	TIAM1 (S1408R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293503	NM_001353694.2(TIAM1):c.4291G>C (p.Ala1431Pro)	TIAM1 (A1406P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043000	NM_001353694.2(TIAM1):c.4290G>A (p.Pro1430=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3177308	NM_001353694.2(TIAM1):c.4289C>T (p.Pro1430Leu)	TIAM1 (P1430L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034467	NM_001353694.2(TIAM1):c.4182G>A (p.Leu1394=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3059392	NM_001353694.2(TIAM1):c.4046-3T>C	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GBenign
Select item 2602474	NM_001353694.2(TIAM1):c.4042G>A (p.Ala1348Thr)	TIAM1 (A381T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693483	NM_001353694.2(TIAM1):c.4016C>T (p.Ala1339Val)	TIAM1 (A1314V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and seizures	GPathogenic
Select item 2492538	NM_001353694.2(TIAM1):c.3995G>A (p.Arg1332Gln)	TIAM1 (R1332Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044926	NM_001353694.2(TIAM1):c.3943-8_3943-6del	TIAM1	Microsatellite (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3038669	NM_001353694.2(TIAM1):c.3936G>A (p.Lys1312=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3049787	NM_001353694.2(TIAM1):c.3843G>T (p.Ser1281=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3040578	NM_001353694.2(TIAM1):c.3843G>A (p.Ser1281=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3035663	NM_001353694.2(TIAM1):c.3816C>T (p.Thr1272=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3177307	NM_001353694.2(TIAM1):c.3799C>A (p.Leu1267Met)	TIAM1 (L275M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042723	NM_001353694.2(TIAM1):c.3655+9C>A	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GLikely benign
Select item 2487623	NM_001353694.2(TIAM1):c.3626C>T (p.Ala1209Val)	TIAM1 (A1184V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551879	NM_001353694.2(TIAM1):c.3613G>T (p.Ala1205Ser)	TIAM1 (A213S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386820	NM_001353694.2(TIAM1):c.3613G>A (p.Ala1205Thr)	TIAM1 (A238T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038441	NM_001353694.2(TIAM1):c.3438C>T (p.Cys1146=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 2226789	NM_001353694.2(TIAM1):c.3412C>T (p.Arg1138Cys)	TIAM1 (R1113C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652583	NM_001353694.2(TIAM1):c.3387G>A (p.Gly1129=)	TIAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 59980	GRCh38/hg38 21q22.11(chr21:31152676-31547770)x1	LOC125418059, LOC126653340 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3052970	NM_001353694.2(TIAM1):c.3241-10T>C	TIAM1	Single nucleotide variant (intron variant)	TIAM1-related disorder	GLikely benign
Select item 3055045	NM_001353694.2(TIAM1):c.3232C>G (p.Gln1078Glu)	TIAM1 (Q1053E +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GLikely benign
Select item 3051057	NM_001353694.2(TIAM1):c.3153G>A (p.Thr1051=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3043893	NM_001353694.2(TIAM1):c.3084G>A (p.Gln1028=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 3038397	NM_001353694.2(TIAM1):c.3068A>T (p.Asp1023Val)	TIAM1 (D1023V +3 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 2509650	NM_001353694.2(TIAM1):c.3029A>C (p.His1010Pro)	TIAM1 (H43P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3034532	NM_001353694.2(TIAM1):c.3020G>A (p.Arg1007His)	TIAM1 (R1007H +2 more)	Single nucleotide variant (missense variant +1 more)	TIAM1-related disorder	GLikely benign
Select item 2351927	NM_001353694.2(TIAM1):c.2962T>A (p.Ser988Thr)	TIAM1 (S988T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2411681	NM_001353694.2(TIAM1):c.2929G>A (p.Ala977Thr)	TIAM1 (A952T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209162	NM_001353694.2(TIAM1):c.2905G>A (p.Glu969Lys)	TIAM1 (E944K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037692	NM_001353694.2(TIAM1):c.2904C>T (p.Ser968=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GLikely benign
Select item 2389597	NM_001353694.2(TIAM1):c.2860C>T (p.Pro954Ser)	TIAM1 (P929S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3040290	NM_001353694.2(TIAM1):c.2844C>T (p.Ala948=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 2263968	NM_001353694.2(TIAM1):c.2840C>T (p.Pro947Leu)	TIAM1 (P922L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177306	NM_001353694.2(TIAM1):c.2836G>A (p.Gly946Ser)	TIAM1 (G946S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535601	NM_001353694.2(TIAM1):c.2828G>A (p.Arg943Gln)	TIAM1 (R943Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039364	NM_001353694.2(TIAM1):c.2784C>T (p.Pro928=)	TIAM1	Single nucleotide variant (synonymous variant)	TIAM1-related disorder	GBenign
Select item 3069006	NM_001353694.2(TIAM1):c.2707G>A (p.Ala903Thr)	TIAM1 (A878T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360971	NM_001353694.2(TIAM1):c.2702G>A (p.Arg901His)	TIAM1 (R901H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513558	NM_001353694.2(TIAM1):c.2668A>C (p.Lys890Gln)	TIAM1 (K865Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223755	NM_001353694.2(TIAM1):c.2657A>G (p.Lys886Arg)	TIAM1 (K886R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410104	NM_001353694.2(TIAM1):c.2623G>A (p.Val875Met)	TIAM1 (V875M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374542	NM_001353694.2(TIAM1):c.2612G>A (p.Arg871Gln)	TIAM1 (R846Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609047	NM_001353694.2(TIAM1):c.2609T>C (p.Ile870Thr)	TIAM1 (I870T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574495	NM_001353694.2(TIAM1):c.2593G>A (p.Val865Met)	TIAM1 (V840M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1526309	NM_001353694.2(TIAM1):c.2584C>T (p.Leu862Phe)	TIAM1 (L837F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056099	NM_001353694.2(TIAM1):c.2532G>C (p.Gln844His)	TIAM1 (Q819H +1 more)	Single nucleotide variant (missense variant)	TIAM1-related disorder	GBenign
Select item 2526262	NM_001353694.2(TIAM1):c.2422C>T (p.Arg808Cys)	TIAM1 (R783C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055610	NM_001353694.2(TIAM1):c.2389-8dup	TIAM1	Duplication (intron variant)	TIAM1-related disorder	GBenign
Select item 2312508	NM_001353694.2(TIAM1):c.2363G>A (p.Arg788Gln)	TIAM1 (R763Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3