ClinVar for Gene (Select 8515) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 260

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148893	GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 3148875	GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3	ACP6, ANKRD34A +39 more	Copy number gain	See cases	GPathogenic
Select item 3111142	NM_003637.5(ITGA10):c.8T>C (p.Leu3Pro)	ITGA10 (L3P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111141	NM_003637.5(ITGA10):c.3171G>T (p.Lys1057Asn)	ITGA10 (K1057N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111140	NM_003637.5(ITGA10):c.316A>G (p.Met106Val)	ITGA10 (M106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111139	NM_003637.5(ITGA10):c.3077C>T (p.Pro1026Leu)	ITGA10 (P883L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111138	NM_003637.5(ITGA10):c.3035C>A (p.Ala1012Glu)	ITGA10 (A881E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111137	NM_003637.5(ITGA10):c.2948G>A (p.Ser983Asn)	ITGA10 (S840N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111136	NM_003637.5(ITGA10):c.2641C>T (p.His881Tyr)	ITGA10 (H738Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111135	NM_003637.5(ITGA10):c.2542A>G (p.Arg848Gly)	ITGA10 (R848G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111134	NM_003637.5(ITGA10):c.248A>G (p.Asn83Ser)	ITGA10 (N83S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3111133	NM_003637.5(ITGA10):c.223C>T (p.Arg75Cys)	ITGA10 (R75C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111132	NM_003637.5(ITGA10):c.2116G>A (p.Glu706Lys)	ITGA10 (E563K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111131	NM_003637.5(ITGA10):c.1727G>C (p.Gly576Ala)	ITGA10 (G433A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111130	NM_003637.5(ITGA10):c.1627C>T (p.Pro543Ser)	ITGA10 (P400S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111129	NM_003637.5(ITGA10):c.1427G>A (p.Ser476Asn)	ITGA10 (S476N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111128	NM_003637.5(ITGA10):c.1283C>A (p.Ala428Glu)	ITGA10 (A285E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111127	NM_003637.5(ITGA10):c.1267G>A (p.Ala423Thr)	ITGA10 (A292T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111126	NM_003637.5(ITGA10):c.1246C>G (p.Leu416Val)	ITGA10 (L273V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063388	GRCh37/hg19 1q21.1(chr1:145452902-145557355)x3	ANKRD34A, ANKRD35 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3062018	Single allele	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GPathogenic
Select item 3024561	GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211)	ACP6, ANKRD34A +23 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685824	GRCh37/hg19 1q21.1(chr1:145287320-145764679)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2685621	GRCh37/hg19 1q21.1(chr1:145382124-145803834)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 2685610	GRCh37/hg19 1q21.1(chr1:145368365-145829474)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2685599	GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 2672392	GRCh37/hg19 1q21.1(chr1:144828541-145826929)x3	ANKRD34A, ANKRD35 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2639111	NM_003637.5(ITGA10):c.1632C>A (p.Pro544=)	ITGA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623463	NM_003637.5(ITGA10):c.774T>A (p.Ser258Arg)	ITGA10 (S115R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615367	NM_003637.5(ITGA10):c.893C>T (p.Thr298Ile)	ITGA10 (T155I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609923	NM_003637.5(ITGA10):c.2729A>T (p.Lys910Met)	ITGA10 (K767M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598027	NM_003637.5(ITGA10):c.938G>A (p.Arg313Gln)	ITGA10 (R170Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2580306	GRCh37/hg19 1q21.1(chr1:145365275-145826979)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2579208	GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1	ANKRD34A, ANKRD35 +47 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 2574675	GRCh37/hg19 1q21.1(chr1:145382123-145792051)	ANKRD34A, ANKRD35 +14 more	Copy number loss	Chromosome 1q21.1 deletion syndrome	GPathogenic
Select item 2570446	NM_003637.5(ITGA10):c.2461C>T (p.Arg821Trp)	ITGA10 (R821W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555157	NM_003637.5(ITGA10):c.70A>T (p.Asn24Tyr)	ITGA10 (N24Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2551417	NM_003637.5(ITGA10):c.1223G>A (p.Arg408His)	ITGA10 (R277H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548431	NM_003637.5(ITGA10):c.2707C>T (p.Leu903Phe)	ITGA10 (L760F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542686	NM_003637.5(ITGA10):c.3304G>A (p.Glu1102Lys)	ITGA10 (E959K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533639	NM_003637.5(ITGA10):c.2672C>T (p.Thr891Ile)	ITGA10 (T760I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525104	NM_003637.5(ITGA10):c.2060G>T (p.Arg687Leu)	ITGA10 (R556L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520051	NM_003637.5(ITGA10):c.2059C>T (p.Arg687Cys)	ITGA10 (R556C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507691	NM_003637.5(ITGA10):c.1960G>A (p.Val654Met)	ITGA10 (V654M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499625	GRCh38/hg38 1q21.1(chr1:145635432-146019857)	ANKRD34A, ANKRD35 +42 more	Copy number loss	See cases	GUncertain significance
Select item 2496334	NM_003637.5(ITGA10):c.1085C>A (p.Ala362Glu)	ITGA10 (A219E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483924	NM_003637.5(ITGA10):c.734C>T (p.Thr245Ile)	ITGA10 (T102I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470516	NM_003637.5(ITGA10):c.1979G>A (p.Ser660Asn)	ITGA10 (S660N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469208	NM_003637.5(ITGA10):c.557C>G (p.Thr186Ser)	ITGA10 (T186S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462218	NM_003637.5(ITGA10):c.116C>T (p.Ala39Val)	ITGA10 (A39V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2445217	Single allele	GPR89A, ANKRD34A +14 more	Deletion	See cases	GPathogenic
Select item 2396774	NM_003637.5(ITGA10):c.931C>T (p.Arg311Trp)	ITGA10 (R168W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390957	NM_003637.5(ITGA10):c.3327C>G (p.Ser1109Arg)	ITGA10 (S966R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390766	NM_003637.5(ITGA10):c.3314G>A (p.Arg1105His)	ITGA10 (R1105H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388112	NM_003637.5(ITGA10):c.1643G>A (p.Arg548Gln)	ITGA10 (R405Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383408	NM_003637.5(ITGA10):c.133G>A (p.Val45Ile)	ITGA10 (V45I)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2373215	NM_003637.5(ITGA10):c.2071C>T (p.Arg691Cys)	ITGA10 (R548C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370164	NM_003637.5(ITGA10):c.806G>C (p.Arg269Thr)	ITGA10 (R269T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335711	NM_003637.5(ITGA10):c.1222C>T (p.Arg408Cys)	ITGA10 (R265C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330914	NM_003637.5(ITGA10):c.281A>G (p.Tyr94Cys)	ITGA10 (Y94C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329383	NM_003637.5(ITGA10):c.210G>T (p.Arg70Ser)	ITGA10 (R70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327684	NM_003637.5(ITGA10):c.2965G>T (p.Ala989Ser)	ITGA10 (A846S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308616	NM_003637.5(ITGA10):c.1928G>A (p.Arg643Gln)	ITGA10 (R500Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279430	NM_003637.5(ITGA10):c.1057C>T (p.Arg353Trp)	ITGA10 (R222W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279127	NM_003637.5(ITGA10):c.2759G>A (p.Arg920Lys)	ITGA10 (R777K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274735	NM_003637.5(ITGA10):c.2096G>A (p.Arg699Lys)	ITGA10 (R556K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266284	NM_003637.5(ITGA10):c.178G>A (p.Ala60Thr)	ITGA10 (A60T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266062	NM_003637.5(ITGA10):c.364A>G (p.Met122Val)	ITGA10 (M122V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259206	NM_003637.5(ITGA10):c.2059C>G (p.Arg687Gly)	ITGA10 (R556G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234782	NM_003637.5(ITGA10):c.747A>G (p.Ile249Met)	ITGA10 (I106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233760	NM_003637.5(ITGA10):c.1358G>A (p.Arg453Gln)	ITGA10 (R310Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222875	NM_003637.5(ITGA10):c.2753T>C (p.Leu918Pro)	ITGA10 (L775P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879126	GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1	ACP6, ANKRD34A +25 more	Copy number loss	not provided	GPathogenic
Select item 1809273	GRCh37/hg19 1q21.1(chr1:144823070-146011861)x1	ANKRD34A, ANKRD35 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1808743	GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1	ACP6, ANKRD34A +32 more	Copy number loss	not provided	GPathogenic
Select item 1807758	GRCh37/hg19 1q21.1(chr1:145083851-145986573)x1	ANKRD34A, ANKRD35 +16 more	Copy number loss	not provided	GPathogenic
Select item 1711161	GRCh37/hg19 1q21.1(chr1:145387023-145764679)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	See cases	GPathogenic
Select item 1708199	GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1	ACP6, ANKRD34A +26 more	Copy number loss	See cases	GPathogenic
Select item 1704315	GRCh37/hg19 1q21.1(chr1:144893419-145803834)x1	ANKRD34A, ANKRD35 +17 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1459111	NC_000001.10:g.(?_145414782)_(145610584_?)del	ANKRD34A, ANKRD35 +10 more	Deletion	not provided	GPathogenic
Select item 1341243	GRCh37/hg19 1q21.1(chr1:145372549-145829474)x1	ANKRD34A, ANKRD35 +14 more	Copy number loss	not provided	GUncertain significance
Select item 1341102	GRCh37/hg19 1q21.1(chr1:145369199-145886340)x1	RNF115, TXNIP +14 more	Copy number loss	not provided	GUncertain significance
Select item 1333003	GRCh37/hg19 1q21.1(chr1:145038814-145747463)	ITGA10, LIX1L +16 more	Copy number loss	Radial aplasia-thrombocytopenia syndrome	GPathogenic
Select item 1331349	NC_000001.10:g.145382933_145831892del	ANKRD34A, ANKRD35 +14 more	Deletion	not provided	GLikely pathogenic
Select item 1330212	GRCh37/hg19 1q21.1(chr1:145324298-146018577)x3	ANKRD34A, ANKRD35 +15 more	Copy number gain	Microcephaly +6 more	GUncertain significance
Select item 1205959	NM_003637.5(ITGA10):c.1712C>T (p.Ala571Val)	ITGA10 (A428V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1172829	GRCh37/hg19 1q21.1(chr1:145382601-145616000)	ANKRD34A, ANKRD35 +11 more	Copy number loss	Cerebral palsy	Grisk factor
Select item 1071174	NC_000001.10:g.(?_145507647)_(145555822_?)del	ANKRD35, ITGA10 +2 more	Deletion	not provided	GPathogenic
Select item 1064148	NC_000001.10:g.(?_145414782)_(145610584_?)dup	ANKRD35, HJV +10 more	Duplication	Radial aplasia-thrombocytopenia syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 983176	GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	See cases	GPathogenic
Select item 980948	GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3	ACP6, ANKRD34A +27 more	Copy number gain	not provided	GPathogenic
Select item 980942	GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1	ACP6, ANKRD34A +31 more	Copy number loss	not provided	GPathogenic
Select item 980941	GRCh37/hg19 1q21.1(chr1:145288338-146011861)x1	ANKRD34A, ANKRD35 +15 more	Copy number loss	not provided	GPathogenic
Select item 973088	GRCh37/hg19 1q21.1(chr1:145291030-145735385)x3	ANKRD34A, ANKRD35 +14 more	Copy number gain	not provided	Gnot provided
Select item 833152	NC_000001.10:g.(?_145487304)_(145528345_?)dup	ITGA10, LIX1L +2 more	Duplication	not provided	GUncertain significance
Select item 831800	NC_000001.10:g.(?_145487304)_(145567095_?)dup	ANKRD35, ITGA10 +3 more	Duplication	not provided	GUncertain significance
Select item 831569	NC_000001.10:g.(?_145498103)_(145567095_?)dup	ANKRD35, ITGA10 +3 more	Duplication	not provided	GUncertain significance

<< First< Prev

Page of 3