GNA13[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 26

	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 650695	NC_000017.10:g.(?_62987152)_(63554748_?)dup	LOC129390912, LOC129390913 +16 more	Duplication	Oligodontia-cancer predisposition syndrome	GUncertain significance
Select item 3257804	NM_006572.6(GNA13):c.1126C>G (p.Leu376Val)	GNA13 (L281V +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 2376190	NM_006572.6(GNA13):c.1109A>G (p.Asn370Ser)	GNA13 (N370S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773331	NM_006572.6(GNA13):c.1101G>A (p.Leu367=)	GNA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3257805	NM_006572.6(GNA13):c.1029C>G (p.Tyr343Ter)	GNA13 (Y248* +1 more)	Single nucleotide variant (nonsense)	Neoplasm	OUncertain significance
Select item 3281748	NM_006572.6(GNA13):c.1021C>T (p.Pro341Ser)	GNA13 (P246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456444	NM_006572.6(GNA13):c.950A>G (p.His317Arg)	GNA13 (H222R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493010	NM_006572.6(GNA13):c.848A>G (p.Asn283Ser)	GNA13 (N283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100547	NM_006572.6(GNA13):c.826G>A (p.Val276Ile)	GNA13 (V181I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612026	NM_006572.6(GNA13):c.436C>T (p.Leu146Phe)	GNA13 (L146F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789341	NM_006572.6(GNA13):c.432A>G (p.Gln144=)	GNA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2341011	NM_006572.6(GNA13):c.412G>C (p.Glu138Gln)	GNA13 (E138Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468133	NM_006572.6(GNA13):c.409G>A (p.Val137Met)	GNA13 (V42M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263376	NM_006572.6(GNA13):c.371C>T (p.Ser124Leu)	GNA13 (S124L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100546	NM_006572.6(GNA13):c.277A>C (p.Ile93Leu)	GNA13 (I93L)	Single nucleotide variant (missense variant)	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 625758	GRCh37/hg19 17q24.1(chr17:62787370-63402628)	GNA13, LRRC37A3 +1 more	Copy number loss	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 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
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 26