CACNG1[gene] - ClinVar

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Items: 29

	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 152211	GRCh38/hg38 17q24.1-24.2(chr17:64634771-67686888)x1	APOH, AXIN2 +109 more	Copy number loss	See cases	GPathogenic
Select item 2207145	NM_000727.4(CACNG1):c.29G>A (p.Arg10His)	CACNG1 (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136504	NM_000727.4(CACNG1):c.31G>A (p.Val11Met)	CACNG1 (V11M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519171	NM_000727.4(CACNG1):c.34A>C (p.Thr12Pro)	CACNG1 (T12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266717	NM_000727.4(CACNG1):c.53C>A (p.Ala18Glu)	CACNG1 (A18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136507	NM_000727.4(CACNG1):c.68C>T (p.Ala23Val)	CACNG1 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474342	NM_000727.4(CACNG1):c.79G>A (p.Val27Met)	CACNG1 (V27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136503	NM_000727.4(CACNG1):c.214A>G (p.Ile72Val)	CACNG1 (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389278	NM_000727.4(CACNG1):c.265G>A (p.Gly89Ser)	CACNG1 (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230549	NM_000727.4(CACNG1):c.325G>A (p.Ala109Thr)	CACNG1 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522381	NM_000727.4(CACNG1):c.331G>A (p.Ala111Thr)	CACNG1 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262873	NM_000727.4(CACNG1):c.365G>A (p.Ser122Asn)	CACNG1 (S122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283533	NM_000727.4(CACNG1):c.380T>C (p.Leu127Pro)	CACNG1 (L127P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136505	NM_000727.4(CACNG1):c.388G>A (p.Gly130Arg)	CACNG1 (G130R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490282	NM_000727.4(CACNG1):c.389G>A (p.Gly130Glu)	CACNG1 (G130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136506	NM_000727.4(CACNG1):c.452T>A (p.Ile151Asn)	CACNG1 (I151N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274332	NM_000727.4(CACNG1):c.461C>G (p.Ser154Trp)	CACNG1 (S154W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815946	GRCh37/hg19 17q24.2(chr17:65050304-65440440)x3	PSMD12, HELZ +2 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564464	GRCh37/hg19 17q24.2(chr17:64963389-65726146)x3	CACNG4, PITPNC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 29