Related gene-specific medical variations for Gene (Select 23261) - ClinVar

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235951	NM_015215.4(CAMTA1):c.4690-2A>G	CAMTA1	Single nucleotide variant (splice acceptor variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 3233779	NM_015215.4(CAMTA1):c.4061G>C (p.Arg1354Pro)	CAMTA1, LOC126805603 (R1211P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233317	NM_015215.4(CAMTA1):c.1580T>G (p.Val527Gly)	CAMTA1 (V497G +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 3065952	NM_015215.4(CAMTA1):c.2914+2448del	CAMTA1 (F3fs)	Deletion (frameshift variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely benign
Select item 3065584	NM_015215.4(CAMTA1):c.968G>A (p.Arg323His)	CAMTA1 (R293H +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 3063366	GRCh37/hg19 1p36.31(chr1:6810718-7036045)x1	CAMTA1	Copy number loss	not specified	GPathogenic
Select item 3026341	NM_015215.4(CAMTA1):c.3982A>G (p.Ile1328Val)	CAMTA1, LOC126805603 (I1298V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2973678	NM_015215.4(CAMTA1):c.4140T>C (p.Ser1380=)	CAMTA1, LOC126805603	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908254	NM_015215.4(CAMTA1):c.4079G>A (p.Ser1360Asn)	CAMTA1, LOC126805603 (S1223N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903324	NM_015215.4(CAMTA1):c.4133G>A (p.Arg1378His)	CAMTA1, LOC126805603 (R1241H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888900	NM_015215.4(CAMTA1):c.4132C>A (p.Arg1378Ser)	CAMTA1, LOC126805603 (R1235S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767501	NM_015215.4(CAMTA1):c.3889A>G (p.Ser1297Gly)	CAMTA1, LOC126805603 (S340G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715877	NM_015215.4(CAMTA1):c.3852C>T (p.Pro1284=)	CAMTA1, LOC126805603	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2688714	NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)	CAMTA1 (S1361N +7 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2688713	NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)	CAMTA1 (D339N +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2688712	NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)	CAMTA1 (R839W +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2685321	GRCh37/hg19 1p36.23(chr1:7490132-7800890)x1	CAMTA1	Copy number loss	not provided	GPathogenic
Select item 2685310	GRCh37/hg19 1p36.23(chr1:7480054-7659291)x1	CAMTA1	Copy number loss	not provided	GPathogenic
Select item 2665012	NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)	CAMTA1 (A926V +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2664058	NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)	CAMTA1, LOC126805603 (S1258G +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2662516	NM_015215.4(CAMTA1):c.4022G>C (p.Gly1341Ala)	CAMTA1, LOC126805603 (G1198A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638131	NM_015215.4(CAMTA1):c.439-97670T>C	CAMTA1, CAMTA1-IT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2584677	NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)	CAMTA1 (P1153S +4 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2582483	NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)	CAMTA1 (Q580* +2 more)	Single nucleotide variant (nonsense)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 2578241	NM_015215.4(CAMTA1):c.3757T>A (p.Phe1253Ile)	CAMTA1, LOC126805603 (F1223I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575019	NM_015215.4(CAMTA1):c.3941G>A (p.Gly1314Glu)	CAMTA1, LOC126805603 (G1284E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2444561	NM_015215.4(CAMTA1):c.4145A>T (p.Glu1382Val)	CAMTA1, LOC126805603 (E1239V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444530	NM_015215.4(CAMTA1):c.4178T>C (p.Ile1393Thr)	CAMTA1, LOC126805603 (I1250T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441720	NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)	CAMTA1 (E1354Q +7 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2441676	NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)	CAMTA1 (Y715* +2 more)	Single nucleotide variant (nonsense)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 2439715	NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439714	NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)	CAMTA1 (V1336F +7 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439713	NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)	CAMTA1 (E312K +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439712	NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)	CAMTA1 (A534T +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439711	NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)	CAMTA1 (G186W +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439710	NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)	CAMTA1 (P707L +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439709	NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)	CAMTA1 (R1413C +7 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439708	NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)	CAMTA1 (V613M +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439707	NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)	CAMTA1 (N231S +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439706	NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)	CAMTA1 (Q866R +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2439705	NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)	CAMTA1 (V430M +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2438790	NM_015215.4(CAMTA1):c.438+1G>A	CAMTA1	Single nucleotide variant (splice donor variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 2430109	NM_015215.4(CAMTA1):c.234+62436_234+62440del	CAMTA1	Deletion (non-coding transcript variant +1 more)	Developmental disorder	GLikely benign
Select item 2286094	NM_015215.4(CAMTA1):c.3677C>T (p.Ser1226Phe)	CAMTA1, LOC126805603 (S269F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227581	NM_015215.4(CAMTA1):c.4013A>G (p.Asn1338Ser)	CAMTA1, LOC126805603 (N1308S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180386	NM_015215.4(CAMTA1):c.4060C>A (p.Arg1354Ser)	CAMTA1, LOC126805603 (R1211S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2075079	NM_015215.4(CAMTA1):c.3673C>T (p.Arg1225Cys)	CAMTA1, LOC126805603 (R1225C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072283	NM_015215.4(CAMTA1):c.4060C>T (p.Arg1354Cys)	CAMTA1, LOC126805603 (R1211C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1928218	NM_015215.4(CAMTA1):c.3791C>T (p.Ala1264Val)	CAMTA1, LOC126805603 (A1264V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901452	NM_015215.4(CAMTA1):c.4086G>A (p.Leu1362=)	CAMTA1, LOC126805603	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722044	NM_015215.4(CAMTA1):c.3752A>T (p.Glu1251Val)	CAMTA1, LOC126805603 (E1221V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1712632	NM_015215.4(CAMTA1):c.3751G>A (p.Glu1251Lys)	CAMTA1, LOC126805603 (E1221K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700201	NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)	CAMTA1 (K1453fs +8 more)	Deletion (frameshift variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 1696521	NM_015215.4(CAMTA1):c.439-60758C>T	CAMTA1	Single nucleotide variant (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 1696438	NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr)	CAMTA1 (S638Y +1 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 1694487	NM_015215.4(CAMTA1):c.4063C>T (p.Pro1355Ser)	CAMTA1, LOC126805603 (P1212S +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1679687	NM_015215.4(CAMTA1):c.4990-3503A>C	CAMTA1	Single nucleotide variant (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 1526948	GRCh37/hg19 1p36.31-36.23(chr1:7158632-7336120)	CAMTA1	Copy number loss	not specified	GUncertain significance
Select item 1324007	NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)	CAMTA1 (W865* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 1311286	NM_015215.4(CAMTA1):c.4049C>T (p.Pro1350Leu)	CAMTA1, LOC126805603 (P1207L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299991	NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys)	CAMTA1, LOC126805603 (E1255K +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 1029368	NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp)	CAMTA1, LOC126805603 (R322W +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities +2 more	GUncertain significance
Select item 1013221	NM_015215.4(CAMTA1):c.4034G>C (p.Gly1345Ala)	CAMTA1, LOC126805603 (G1202A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983363	NM_015215.4(CAMTA1):c.5009G>A (p.Gly1670Asp)	CAMTA1 (A1554T +12 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 978142	NM_015215.4(CAMTA1):c.967C>G (p.Arg323Gly)	CAMTA1 (R293G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978107	NM_015215.4(CAMTA1):c.4159G>A (p.Gly1387Ser)	CAMTA1, LOC126805603 (G1244S +6 more)	Single nucleotide variant (missense variant)	Seizure +1 more	GUncertain significance
Select item 975363	NM_015215.4(CAMTA1):c.1414G>A (p.Gly472Ser)	CAMTA1 (G442S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975362	NM_015215.4(CAMTA1):c.439-4C>G	CAMTA1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 975361	NM_015215.4(CAMTA1):c.4884-8T>G	CAMTA1	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 973263	NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)	CAMTA1, LOC126805603 (P374fs +6 more)	Indel (frameshift variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 972996	NM_015215.4(CAMTA1):c.1A>G (p.Met1Val)	CAMTA1, LOC129929266 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 932045	NM_015215.4(CAMTA1):c.511-22_511-19del	CAMTA1	Deletion (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 930676	NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)	CAMTA1 (S825G +1 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 871044	NM_015215.4(CAMTA1):c.3931C>T (p.Gln1311Ter)	CAMTA1, LOC126805603 (Q1281* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 817198	NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs)	CAMTA1, LOC126805603 (E1255fs +6 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 814049	GRCh37/hg19 1p36.23(chr1:7235627-7605511)x1	CAMTA1	Copy number loss	not provided	GPathogenic
Select item 784438	NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)	CAMTA1, LOC126805603 (T1193I +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 769502	NM_015215.4(CAMTA1):c.4125G>A (p.Gly1375=)	CAMTA1, LOC126805603	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 741477	NM_015215.4(CAMTA1):c.4182+7A>G	CAMTA1, LOC126805603	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741454	NM_015215.4(CAMTA1):c.4017G>A (p.Pro1339=)	CAMTA1, LOC126805603	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728922	NM_015215.4(CAMTA1):c.4160G>A (p.Gly1387Asp)	CAMTA1, LOC126805603 (G1357D +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 686888	GRCh37/hg19 1p36.23(chr1:7566788-7773174)x3	CAMTA1	Copy number gain	not provided	GUncertain significance
Select item 599309	NM_015215.4(CAMTA1):c.511-18459_511-15460del	CAMTA1	Deletion (intron variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 565069	GRCh37/hg19 1p36.23(chr1:7266936-7408418)x3	CAMTA1	Copy number gain	not provided	GLikely pathogenic
Select item 489158	NM_015215.4(CAMTA1):c.3962G>A (p.Trp1321Ter)	CAMTA1, LOC126805603 (W1321* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 443880	GRCh37/hg19 1p36.23(chr1:7394507-7638032)x1	CAMTA1	Copy number loss	See cases	GLikely pathogenic
Select item 395390	GRCh37/hg19 1p36.23(chr1:7491051-7557880)x3	CAMTA1	Copy number gain	See cases	GLikely benign
Select item 37008	NC_000001.9:g.6777038_6826186del	CAMTA1	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic

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Items: 88