ClinVar for Gene (Select 23261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254964	NM_015215.4(CAMTA1):c.4618-1G>A	CAMTA1	Single nucleotide variant (splice acceptor variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 3254720	NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)	CAMTA1 (T661fs +2 more)	Deletion (frameshift variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 3253493	NM_015215.4(CAMTA1):c.4614C>A (p.Tyr1538Ter)	CAMTA1 (Y1395* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3251008	NM_015215.4(CAMTA1):c.4460C>G (p.Pro1487Arg)	CAMTA1 (P1344R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250743	NM_015215.4(CAMTA1):c.2124G>A (p.Gly708=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250588	NM_015215.4(CAMTA1):c.2334C>T (p.Asn778=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247991	NC_000001.10:g.(?_7527870)_(7527981_?)del	CAMTA1	Deletion	not provided	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	KCNAB2, KIF1B +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3242030	NM_015215.4(CAMTA1):c.1999G>A (p.Glu667Lys)	CAMTA1 (E637K +2 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 3239357	NM_015215.4(CAMTA1):c.4829G>C (p.Cys1610Ser)	CAMTA1 (C1473S +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237499	NM_015215.4(CAMTA1):c.3521T>C (p.Leu1174Pro)	CAMTA1 (L1144P +4 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 3236366	NM_015215.4(CAMTA1):c.3350C>T (p.Ala1117Val)	CAMTA1 (A1087V +4 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
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 3136914	NM_015215.4(CAMTA1):c.982G>A (p.Gly328Ser)	CAMTA1 (G304S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136913	NM_015215.4(CAMTA1):c.926C>T (p.Ser309Leu)	CAMTA1 (S279L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136912	NM_015215.4(CAMTA1):c.901T>G (p.Ser301Ala)	CAMTA1 (S277A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136911	NM_015215.4(CAMTA1):c.700A>G (p.Ser234Gly)	CAMTA1 (S204G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136910	NM_015215.4(CAMTA1):c.4999A>T (p.Ile1667Phe)	CAMTA1 (E1519D +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136909	NM_015215.4(CAMTA1):c.4607G>A (p.Arg1536Gln)	CAMTA1 (R579Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136908	NM_015215.4(CAMTA1):c.3542A>C (p.His1181Pro)	CAMTA1 (H1151P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136907	NM_015215.4(CAMTA1):c.3167A>G (p.His1056Arg)	CAMTA1 (H1032R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136906	NM_015215.4(CAMTA1):c.2941G>A (p.Glu981Lys)	CAMTA1 (E5K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136905	NM_015215.4(CAMTA1):c.2704T>C (p.Tyr902His)	CAMTA1 (Y878H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136903	NM_015215.4(CAMTA1):c.2425G>A (p.Gly809Arg)	CAMTA1 (G785R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136902	NM_015215.4(CAMTA1):c.2219T>C (p.Val740Ala)	CAMTA1 (V740A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136901	NM_015215.4(CAMTA1):c.2101A>G (p.Ser701Gly)	CAMTA1 (S671G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136899	NM_015215.4(CAMTA1):c.1693G>A (p.Gly565Ser)	CAMTA1 (G535S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136898	NM_015215.4(CAMTA1):c.1544C>T (p.Ser515Leu)	CAMTA1 (S491L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136897	NM_015215.4(CAMTA1):c.1342G>T (p.Gly448Cys)	CAMTA1 (G418C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 3063366	GRCh37/hg19 1p36.31(chr1:6810718-7036045)x1	CAMTA1	Copy number loss	not specified	GPathogenic
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3063055	GRCh37/hg19 1p36.31(chr1:6727645-6854433)x1	CAMTA1, DNAJC11	Copy number loss	not specified	GPathogenic
Select item 3061514	NM_015215.4(CAMTA1):c.3532C>G (p.Pro1178Ala)	CAMTA1 (P1148A +4 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3057460	NM_015215.4(CAMTA1):c.1947G>A (p.Thr649=)	CAMTA1	Single nucleotide variant (synonymous variant)	CAMTA1-related disorder	GLikely benign
Select item 3057257	NM_015215.4(CAMTA1):c.806-5C>T	CAMTA1	Single nucleotide variant (intron variant)	CAMTA1-related disorder	GLikely benign
Select item 3049723	NM_015215.4(CAMTA1):c.2697C>T (p.Ser899=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	CAMTA1-related disorder	GLikely benign
Select item 3040096	NM_015215.4(CAMTA1):c.576C>T (p.Cys192=)	CAMTA1	Single nucleotide variant (synonymous variant)	CAMTA1-related disorder	GLikely benign
Select item 3040088	NM_015215.4(CAMTA1):c.174T>G (p.Leu58=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	CAMTA1-related disorder	GLikely benign
Select item 3040003	NM_015215.4(CAMTA1):c.4446C>A (p.Ile1482=)	CAMTA1	Single nucleotide variant (synonymous variant)	CAMTA1-related disorder	GLikely benign
Select item 3033367	NM_015215.4(CAMTA1):c.3414G>A (p.Ser1138=)	CAMTA1	Single nucleotide variant (synonymous variant)	CAMTA1-related disorder	GLikely benign
Select item 3032718	NM_015215.4(CAMTA1):c.3025G>A (p.Gly1009Arg)	CAMTA1 (G1009R +4 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3029988	NM_015215.4(CAMTA1):c.1892C>A (p.Thr631Asn)	CAMTA1 (T601N +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3027227	NM_015215.4(CAMTA1):c.883G>A (p.Gly295Arg)	CAMTA1 (G265R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027146	NM_015215.4(CAMTA1):c.2416T>G (p.Ser806Ala)	CAMTA1 (S776A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026785	NM_015215.4(CAMTA1):c.1415G>A (p.Gly472Asp)	CAMTA1 (G442D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026593	NM_015215.4(CAMTA1):c.3532C>T (p.Pro1178Ser)	CAMTA1 (P1148S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3025930	NM_015215.4(CAMTA1):c.1938G>A (p.Thr646=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025819	NM_015215.4(CAMTA1):c.4445T>C (p.Ile1482Thr)	CAMTA1 (I1339T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025163	NM_015215.4(CAMTA1):c.2730A>C (p.Ser910=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023275	NM_015215.4(CAMTA1):c.234+20dup	CAMTA1	Duplication (intron variant)	not provided	GBenign
Select item 3022944	NM_015215.4(CAMTA1):c.438+16G>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022177	NM_015215.4(CAMTA1):c.805+17G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021961	NM_015215.4(CAMTA1):c.1193C>T (p.Thr398Met)	CAMTA1 (T374M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021635	NM_015215.4(CAMTA1):c.903G>A (p.Ser301=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021176	NM_015215.4(CAMTA1):c.3264-15T>C	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020379	NM_015215.4(CAMTA1):c.1410C>T (p.Leu470=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005452	NM_015215.4(CAMTA1):c.2442C>G (p.Phe814Leu)	CAMTA1 (F790L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996568	NM_015215.4(CAMTA1):c.3485G>A (p.Cys1162Tyr)	CAMTA1 (C1132Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993765	NM_015215.4(CAMTA1):c.4841G>A (p.Arg1614Gln)	CAMTA1 (R1477Q +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987425	NM_015215.4(CAMTA1):c.1023C>T (p.Thr341=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983518	NM_015215.4(CAMTA1):c.45+17G>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981565	NM_015215.4(CAMTA1):c.1110G>A (p.Pro370=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981181	NM_015215.4(CAMTA1):c.576C>A (p.Cys192Ter)	CAMTA1 (C162* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979124	NM_015215.4(CAMTA1):c.4797C>T (p.Leu1599=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978981	NM_015215.4(CAMTA1):c.4922G>A (p.Arg1641Gln)	CAMTA1 (R552Q +11 more)	Single nucleotide variant (missense variant)	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 2970308	NM_015215.4(CAMTA1):c.744C>T (p.Leu248=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969934	NM_015215.4(CAMTA1):c.1056C>T (p.Pro352=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969889	NM_015215.4(CAMTA1):c.2140A>G (p.Ser714Gly)	CAMTA1 (S684G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969004	NM_015215.4(CAMTA1):c.1421G>A (p.Arg474Gln)	CAMTA1 (R450Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968066	NM_015215.4(CAMTA1):c.4329T>C (p.Tyr1443=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967033	NM_015215.4(CAMTA1):c.4588C>T (p.Leu1530Phe)	CAMTA1 (L1530F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965194	NM_015215.4(CAMTA1):c.4401T>C (p.Ser1467=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2965005	NM_015215.4(CAMTA1):c.1658C>T (p.Ala553Val)	CAMTA1 (A523V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962229	NM_015215.4(CAMTA1):c.2187C>T (p.Ser729=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962068	NM_015215.4(CAMTA1):c.4370+20T>C	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961515	NM_015215.4(CAMTA1):c.1383C>T (p.Ser461=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961020	NM_015215.4(CAMTA1):c.664+8G>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960322	NM_015215.4(CAMTA1):c.2779+11C>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957529	NM_015215.4(CAMTA1):c.1109C>T (p.Pro370Leu)	CAMTA1 (P340L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957506	NM_015215.4(CAMTA1):c.2914+20C>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957106	NM_015215.4(CAMTA1):c.439-19G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956725	NM_015215.4(CAMTA1):c.4618-18C>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956006	NM_015215.4(CAMTA1):c.510+11G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955324	NM_015215.4(CAMTA1):c.2779+18dup	CAMTA1	Duplication (intron variant)	not provided	GBenign
Select item 2916995	NM_015215.4(CAMTA1):c.1438A>G (p.Thr480Ala)	CAMTA1 (T480A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2910600	NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)	CAMTA1	Single nucleotide variant (synonymous variant)	CAMTA1-related disorder +1 more	GBenign/Likely benign
Select item 2909867	NM_015215.4(CAMTA1):c.3015C>T (p.Gly1005=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908337	NM_015215.4(CAMTA1):c.3379G>A (p.Val1127Ile)	CAMTA1 (V1103I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2906157	NM_015215.4(CAMTA1):c.2256C>T (p.Leu752=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904967	NM_015215.4(CAMTA1):c.2239G>A (p.Val747Met)	CAMTA1 (V723M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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