23261[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 149833	GRCh38/hg38 1p36.31(chr1:6674118-6916542)x3	CAMTA1, CAMTA1-DT +7 more	Copy number gain	See cases	GLikely benign
Select item 154639	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1	CAMTA1, CAMTA1-AS1 +63 more	Copy number loss	See cases	GUncertain significance
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 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 2419226	NM_015215.4(CAMTA1):c.15G>A (p.Glu5=)	CAMTA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1308813	NM_015215.4(CAMTA1):c.39C>T (p.Ser13=)	CAMTA1 (P7S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2016089	NM_015215.4(CAMTA1):c.45+5G>C	CAMTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2175151	NM_015215.4(CAMTA1):c.45+9C>T	CAMTA1	Single nucleotide variant (intron 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 1914392	NM_015215.4(CAMTA1):c.45+18A>G	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638128	NM_015215.4(CAMTA1):c.46-13127A>C	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2638129	NM_015215.4(CAMTA1):c.49G>A (p.Val17Ile)	CAMTA1 (V17I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2372672	NM_015215.4(CAMTA1):c.109A>G (p.Ile37Val)	CAMTA1 (I37V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 984541	NM_015215.4(CAMTA1):c.122A>G (p.His41Arg)	CAMTA1 (H11R +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental abnormality	GLikely benign
Select item 520919	NM_015215.4(CAMTA1):c.153C>G (p.Ile51Met)	CAMTA1 (I51M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 252997	NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)	CAMTA1 (F52I +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 2100134	NM_015215.4(CAMTA1):c.164A>G (p.Lys55Arg)	CAMTA1 (K25R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1342305	NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)	CAMTA1 (L31fs +2 more)	Deletion (frameshift variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 777870	NM_015215.4(CAMTA1):c.198T>C (p.Ser66=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2890987	NM_015215.4(CAMTA1):c.201A>G (p.Leu67=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 422940	NM_015215.4(CAMTA1):c.217C>T (p.Arg73Cys)	CAMTA1 (R73C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 560237	NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)	CAMTA1 (N77D +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 1801857	NM_015215.4(CAMTA1):c.231T>G (p.Asn77Lys)	CAMTA1 (N47K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706201	NM_015215.4(CAMTA1):c.234G>A (p.Glu78=)	CAMTA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely pathogenic
Select item 721462	NM_015215.4(CAMTA1):c.234+5A>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3023275	NM_015215.4(CAMTA1):c.234+20dup	CAMTA1	Duplication (intron variant)	not provided	GBenign
Select item 1987599	NM_015215.4(CAMTA1):c.234+16T>C	CAMTA1	Single nucleotide variant (intron variant)	not provided	GBenign
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 2585662	NM_015215.4(CAMTA1):c.234+62447C>T	CAMTA1 (L80F)	Single nucleotide variant (missense variant +2 more)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GBenign
Select item 2638130	NM_015215.4(CAMTA1):c.234+62470C>T	CAMTA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 153542	GRCh38/hg38 1p36.31-36.23(chr1:7028200-7162042)x1	CAMTA1, LOC129929273	Copy number loss	See cases	GLikely pathogenic
Select item 2504804	NM_015215.4(CAMTA1):c.235-3C>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1710253	NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)	CAMTA1 (A51T +1 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 982402	NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	CAMTA1	Deletion (nonsense)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 2723964	NM_015215.4(CAMTA1):c.270C>T (p.His90=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 2779057	NM_015215.4(CAMTA1):c.303-7T>C	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904008	NM_015215.4(CAMTA1):c.303-5del	CAMTA1	Deletion (intron variant)	not provided	GLikely benign
Select item 450211	NM_015215.4(CAMTA1):c.317C>G (p.Ser106Ter)	CAMTA1 (S106* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1303701	NM_015215.4(CAMTA1):c.319A>G (p.Met107Val)	CAMTA1 (M107V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313638	NM_015215.4(CAMTA1):c.322A>G (p.Ile108Val)	CAMTA1 (I108V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306755	NM_015215.4(CAMTA1):c.333_336delinsGAGTATCATTTAC (p.Asn111_Arg112delinsLysSerIleIleTyr)	CAMTA1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1333982	NM_015215.4(CAMTA1):c.363del (p.Tyr122fs)	CAMTA1 (Y122fs +1 more)	Deletion (frameshift variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 732026	NM_015215.4(CAMTA1):c.363G>A (p.Gly121=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2084368	NM_015215.4(CAMTA1):c.395C>T (p.Thr132Met)	CAMTA1 (T102M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504695	NM_015215.4(CAMTA1):c.400A>G (p.Arg134Gly)	CAMTA1 (R104G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691186	NM_015215.4(CAMTA1):c.403G>A (p.Glu135Lys)	CAMTA1 (E105K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1342309	NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)	CAMTA1 (E135G +1 more)	Single nucleotide variant (missense variant)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GPathogenic
Select item 1309928	NM_015215.4(CAMTA1):c.407A>G (p.Asp136Gly)	CAMTA1 (D106G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 736312	NM_015215.4(CAMTA1):c.411C>T (p.His137=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 521550	NM_015215.4(CAMTA1):c.420del (p.Lys141fs)	CAMTA1 (K111fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 973014	NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)	CAMTA1 (K111N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2505217	NM_015215.4(CAMTA1):c.433G>A (p.Val145Met)	CAMTA1 (V115M +1 more)	Single nucleotide variant (missense variant)	not provided	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 3022944	NM_015215.4(CAMTA1):c.438+16G>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57719	GRCh38/hg38 1p36.23(chr1:7330680-7886654)x3	CAMTA1, CAMTA1-AS1 +19 more	Copy number gain	See cases	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 148928	GRCh38/hg38 1p36.23(chr1:7404800-7606118)x1	CAMTA1, CAMTA1-AS1 +2 more	Copy number loss	See cases	GLikely pathogenic
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 2957106	NM_015215.4(CAMTA1):c.439-19G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	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 623668	NM_015215.4(CAMTA1):c.441C>T (p.Cys147=)	CAMTA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 426755	NM_015215.4(CAMTA1):c.482T>C (p.Phe161Ser)	CAMTA1 (F161S +1 more)	Single nucleotide variant (missense variant)	not provided	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 2627808	NM_015215.4(CAMTA1):c.487C>G (p.Arg163Gly)	CAMTA1 (R133G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1202798	NM_015215.4(CAMTA1):c.488G>A (p.Arg163Gln)	CAMTA1 (R133Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2331583	NM_015215.4(CAMTA1):c.501G>A (p.Trp167Ter)	CAMTA1 (W137* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1310132	NM_015215.4(CAMTA1):c.506T>C (p.Leu169Pro)	CAMTA1 (L139P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 756327	NM_015215.4(CAMTA1):c.510+8G>A	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923827	NM_015215.4(CAMTA1):c.510+9C>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 1192579	NM_015215.4(CAMTA1):c.510+35T>C	CAMTA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 2017476	NM_015215.4(CAMTA1):c.511-10C>T	CAMTA1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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