CACNA1G-AS1[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1271024	NM_018896.5(CACNA1G):c.-606G>A	CACNA1G, CACNA1G-AS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2573936	NM_018896.5(CACNA1G):c.9GGA[2] (p.Glu5del)	CACNA1G, CACNA1G-AS1 (E5del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2859370	NM_018896.5(CACNA1G):c.13G>C (p.Glu5Gln)	CACNA1G, CACNA1G-AS1 (E5Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3262767	NM_018896.5(CACNA1G):c.49C>G (p.Arg17Gly)	CACNA1G, CACNA1G-AS1 (R17G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1712620	NM_018896.5(CACNA1G):c.59T>C (p.Met20Thr)	CACNA1G-AS1, CACNA1G (M20T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2595947	NM_018896.5(CACNA1G):c.68A>C (p.Asn23Thr)	CACNA1G, CACNA1G-AS1 (N23T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2090814	NM_018896.5(CACNA1G):c.70G>A (p.Asp24Asn)	CACNA1G, CACNA1G-AS1 (D24N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916187	NM_018896.5(CACNA1G):c.72C>G (p.Asp24Glu)	CACNA1G, CACNA1G-AS1 (D24E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2962272	NM_018896.5(CACNA1G):c.73C>T (p.Leu25=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 387126	NM_018896.5(CACNA1G):c.77C>G (p.Ser26Trp)	CACNA1G, CACNA1G-AS1 (S26W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302298	NM_018896.5(CACNA1G):c.78G>A (p.Ser26=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3136376	NM_018896.5(CACNA1G):c.86G>A (p.Gly29Glu)	CACNA1G, CACNA1G-AS1 (G29E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2888122	NM_018896.5(CACNA1G):c.89G>A (p.Gly30Asp)	CACNA1G, CACNA1G-AS1 (G30D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3054884	NM_018896.5(CACNA1G):c.103G>A (p.Gly35Arg)	CACNA1G, CACNA1G-AS1 (G35R)	Single nucleotide variant (missense variant +1 more)	CACNA1G-related disorder	GUncertain significance
Select item 2920171	NM_018896.5(CACNA1G):c.123G>T (p.Pro41=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808292	NM_018896.5(CACNA1G):c.123G>C (p.Pro41=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2230327	NM_018896.5(CACNA1G):c.126del (p.Ser43fs)	CACNA1G, CACNA1G-AS1 (S43fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634813	NM_018896.5(CACNA1G):c.146A>T (p.Glu49Val)	CACNA1G, CACNA1G-AS1 (E49V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3253502	NM_018896.5(CACNA1G):c.155C>G (p.Pro52Arg)	CACNA1G, CACNA1G-AS1 (P52R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2672700	NM_018896.5(CACNA1G):c.156G>A (p.Pro52=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796182	NM_018896.5(CACNA1G):c.164C>T (p.Ala55Val)	CACNA1G, CACNA1G-AS1 (A55V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2889050	NM_018896.5(CACNA1G):c.165G>A (p.Ala55=)	CACNA1G-AS1, CACNA1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973556	NM_018896.5(CACNA1G):c.192G>A (p.Leu64=)	CACNA1G, CACNA1G-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412851	NM_018896.5(CACNA1G):c.215G>A (p.Ser72Asn)	CACNA1G, CACNA1G-AS1 (S72N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340728	NM_018896.5(CACNA1G):c.227G>T (p.Arg76Leu)	CACNA1G, CACNA1G-AS1 (R76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3010711	NM_018896.5(CACNA1G):c.242+19C>G	CACNA1G, CACNA1G-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1933781	NM_018896.5(CACNA1G):c.242+19C>T	CACNA1G, CACNA1G-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287817	NM_018896.5(CACNA1G):c.242+134dup	CACNA1G, CACNA1G-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1262688	NM_018896.5(CACNA1G):c.242+125_242+126insAGG	CACNA1G, CACNA1G-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1259361	NM_018896.5(CACNA1G):c.242+134del	CACNA1G, CACNA1G-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1290756	NM_018896.5(CACNA1G):c.242+305C>A	CACNA1G, CACNA1G-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

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Items: 35