ClinVar for Gene (Select 23261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373652	NM_015215.4(CAMTA1):c.1706T>A (p.Leu569Gln)	CAMTA1 (L539Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371361	NM_015215.4(CAMTA1):c.3016G>T (p.Gly1006Cys)	CAMTA1 (G1006C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370760	NM_015215.4(CAMTA1):c.4751A>G (p.Tyr1584Cys)	CAMTA1 (Y1447C +10 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368538	NM_015215.4(CAMTA1):c.3683C>T (p.Pro1228Leu)	CAMTA1, LOC126805603 (P1198L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367390	NM_015215.4(CAMTA1):c.4358C>G (p.Ala1453Gly)	CAMTA1 (A1310G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366140	NM_015215.4(CAMTA1):c.3074C>T (p.Ser1025Phe)	CAMTA1 (S1001F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365940	NM_015215.4(CAMTA1):c.1951G>T (p.Ala651Ser)	CAMTA1 (A621S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364335	NM_015215.4(CAMTA1):c.4510A>G (p.Ser1504Gly)	CAMTA1 (S1361G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364011	NM_015215.4(CAMTA1):c.4990A>C (p.Ser1664Arg)	CAMTA1 (R1516S +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364009	NM_015215.4(CAMTA1):c.2465C>T (p.Pro822Leu)	CAMTA1 (P792L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363375	NM_015215.4(CAMTA1):c.683C>T (p.Thr228Ile)	CAMTA1 (T198I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362231	NM_015215.4(CAMTA1):c.3454A>G (p.Arg1152Gly)	CAMTA1 (R1122G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361747	NM_015215.4(CAMTA1):c.4989+5G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3361411	NM_015215.4(CAMTA1):c.1376A>G (p.Asn459Ser)	CAMTA1 (N429S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358024	NM_015215.4(CAMTA1):c.3922_3930del (p.Ala1308_Phe1310del)	CAMTA1, LOC126805603	Deletion (inframe_deletion +1 more)	CAMTA1-related disorder	GUncertain significance
Select item 3355620	NM_015215.4(CAMTA1):c.2084C>T (p.Ser695Leu)	CAMTA1 (S665L +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3351563	NM_015215.4(CAMTA1):c.4220C>G (p.Ala1407Gly)	CAMTA1 (A1264G +7 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GLikely benign
Select item 3350220	NM_015215.4(CAMTA1):c.2521A>C (p.Ser841Arg)	CAMTA1 (S811R +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3349853	NM_015215.4(CAMTA1):c.2616G>A (p.Met872Ile)	CAMTA1 (M842I +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3349123	NM_015215.4(CAMTA1):c.1223C>A (p.Ala408Asp)	CAMTA1 (A378D +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3347510	NM_015215.4(CAMTA1):c.1202T>C (p.Met401Thr)	CAMTA1 (M371T +2 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3346415	NM_015215.4(CAMTA1):c.4363C>T (p.Gln1455Ter)	CAMTA1 (Q1312* +7 more)	Single nucleotide variant (nonsense)	CAMTA1-related disorder	GLikely pathogenic
Select item 3346343	NM_015215.4(CAMTA1):c.838_839del (p.Ser280fs)	CAMTA1 (S250fs +2 more)	Deletion (frameshift variant)	CAMTA1-related disorder	GLikely pathogenic
Select item 3345920	NM_015215.4(CAMTA1):c.-10G>C	CAMTA1, LOC129929266	Single nucleotide variant (5 prime UTR variant +1 more)	CAMTA1-related disorder	GLikely benign
Select item 3345651	NM_015215.4(CAMTA1):c.596_598del (p.Ile199del)	CAMTA1 (I169del +2 more)	Deletion (inframe_deletion)	CAMTA1-related disorder	GUncertain significance
Select item 3344282	NM_015215.4(CAMTA1):c.281T>A (p.Leu94Gln)	CAMTA1 (L64Q +1 more)	Single nucleotide variant (missense variant)	CAMTA1-related disorder	GUncertain significance
Select item 3344101	NM_015215.4(CAMTA1):c.3828C>A (p.Ser1276Arg)	CAMTA1, LOC126805603 (S1246R +3 more)	Single nucleotide variant (missense variant +1 more)	CAMTA1-related disorder	GUncertain significance
Select item 3342108	NM_015215.4(CAMTA1):c.1955C>G (p.Ser652Trp)	CAMTA1 (S622W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3263087	NM_015215.4(CAMTA1):c.2278C>T (p.Leu760Phe)	CAMTA1 (L736F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263086	NM_015215.4(CAMTA1):c.2338T>G (p.Phe780Val)	CAMTA1 (F756V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263085	NM_015215.4(CAMTA1):c.4861G>A (p.Val1621Met)	CAMTA1 (V1621M +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263084	NM_015215.4(CAMTA1):c.4622G>A (p.Arg1541Gln)	CAMTA1 (R565Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263083	NM_015215.4(CAMTA1):c.487C>T (p.Arg163Trp)	CAMTA1 (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263082	NM_015215.4(CAMTA1):c.665T>A (p.Phe222Tyr)	CAMTA1 (F198Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263081	NM_015215.4(CAMTA1):c.4913A>G (p.Gln1638Arg)	CAMTA1 (Q1501R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263080	NM_015215.4(CAMTA1):c.3920C>G (p.Thr1307Ser)	CAMTA1, LOC126805603 (T1307S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263079	NM_015215.4(CAMTA1):c.3512A>G (p.Gln1171Arg)	CAMTA1 (Q214R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	DNAJC11, DRAXIN +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 +1 more	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

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