CACNG5[gene] - ClinVar

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Items: 38

	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 719521	NM_145811.3(CACNG5):c.57T>C (p.Cys19=)	CACNG5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2458033	NM_145811.3(CACNG5):c.91G>A (p.Asp31Asn)	CACNG5 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308336	NM_145811.3(CACNG5):c.100C>A (p.Leu34Met)	CACNG5 (L34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136516	NM_145811.3(CACNG5):c.118G>A (p.Val40Met)	CACNG5 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370871	NM_145811.3(CACNG5):c.181G>T (p.Val61Phe)	CACNG5 (V61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444414	NM_145811.3(CACNG5):c.193G>A (p.Ala65Thr)	CACNG5 (A65T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507668	NM_145811.3(CACNG5):c.206G>C (p.Arg69Pro)	CACNG5 (R69P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350451	NM_145811.3(CACNG5):c.206G>A (p.Arg69Gln)	CACNG5 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217887	NM_145811.3(CACNG5):c.292C>T (p.Arg98Cys)	CACNG5 (R98C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136517	NM_145811.3(CACNG5):c.361G>A (p.Gly121Arg)	CACNG5 (G121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401323	NM_145811.3(CACNG5):c.370C>T (p.Arg124Cys)	CACNG5 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136518	NM_145811.3(CACNG5):c.383C>T (p.Thr128Met)	CACNG5 (T128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136519	NM_145811.3(CACNG5):c.474T>G (p.Asp158Glu)	CACNG5 (D158E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290007	NM_145811.3(CACNG5):c.533C>T (p.Ser178Leu)	CACNG5 (S178L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136520	NM_145811.3(CACNG5):c.577G>A (p.Gly193Arg)	CACNG5 (G193R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332137	NM_145811.3(CACNG5):c.603G>T (p.Met201Ile)	CACNG5 (M201I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262882	NM_145811.3(CACNG5):c.617C>A (p.Ala206Glu)	CACNG5 (A206E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262884	NM_145811.3(CACNG5):c.650A>C (p.Tyr217Ser)	CACNG5 (Y217S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136521	NM_145811.3(CACNG5):c.650A>G (p.Tyr217Cys)	CACNG5 (Y217C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569914	NM_145811.3(CACNG5):c.653G>A (p.Arg218His)	CACNG5 (R218H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136522	NM_145811.3(CACNG5):c.658C>T (p.Arg220Trp)	CACNG5 (R220W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136523	NM_145811.3(CACNG5):c.659G>A (p.Arg220Gln)	CACNG5 (R220Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226862	NM_145811.3(CACNG5):c.676G>A (p.Asp226Asn)	CACNG5 (D226N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605942	NM_145811.3(CACNG5):c.752C>G (p.Ser251Cys)	CACNG5 (S251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300788	NM_145811.3(CACNG5):c.808A>G (p.Met270Val)	CACNG5 (M270V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262883	NM_145811.3(CACNG5):c.812C>T (p.Ser271Phe)	CACNG5 (S271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526583	GRCh37/hg19 17q24.1-24.2(chr17:63764889-64931712)	APOH, CACNG5 +2 more	Copy number gain	not specified	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 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: 38