GNG3[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 145432	GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3	B3GAT3, BSCL2 +70 more	Copy number gain	See cases	GUncertain significance
Select item 1293294	NM_001122955.4(BSCL2):c.87+64_87+66del	BSCL2, GNG3 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1699870	NM_001122955.4(BSCL2):c.78C>G (p.Asp26Glu)	BSCL2, GNG3 +1 more (D26E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 429873	NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu)	BSCL2, GNG3 +1 more (Q21L)	Single nucleotide variant (genic upstream transcript variant +2 more)	Neuronopathy, distal hereditary motor, type 5C +4 more	GUncertain significance
Select item 257498	NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu)	BSCL2, GNG3 +1 more (D20E)	Single nucleotide variant (non-coding transcript variant +1 more)	Monogenic diabetes +2 more	GBenign
Select item 1703084	NM_001122955.4(BSCL2):c.54C>A (p.Cys18Ter)	BSCL2, GNG3 +1 more (C18*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2672469	NM_001122955.4(BSCL2):c.39G>A (p.Gly13=)	BSCL2, GNG3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1186485	NM_001122955.4(BSCL2):c.-88C>T	HNRNPUL2-BSCL2, BSCL2 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1261154	NM_001122955.4(BSCL2):c.-172T>C	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1320031	NM_001122955.3(BSCL2):c.-291G>A	BSCL2, GNG3 +1 more	Single nucleotide variant (intron variant)	Reduced delayed hypersensitivity +2 more	GPathogenic
Select item 668736	NM_032667.6(BSCL2):c.-1574T>G	BSCL2, GNG3 +1 more	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 1198651	NM_012202.5(GNG3):c.-197G>A	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250306	NM_012202.5(GNG3):c.-136G>C	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1240787	NM_012202.5(GNG3):c.-2+62C>T	BSCL2, GNG3 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321543	NM_012202.5(GNG3):c.-1-110G>A	BSCL2, GNG3 +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 985366	NM_012202.5(GNG3):c.12_13dup (p.Thr5fs)	BSCL2, GNG3 +2 more (T5fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1675458	NM_012202.5(GNG3):c.15C>G (p.Thr5=)	BSCL2, GNG3 +2 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 424980	NM_012202.5(GNG3):c.91C>T (p.Arg31Trp)	BSCL2, GNG3 +2 more (R31W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754668	NM_012202.5(GNG3):c.135T>C (p.Cys45=)	BSCL2, GNG3 +2 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410131	NM_012202.5(GNG3):c.145G>A (p.Ala49Thr)	BSCL2, GNG3 +2 more (A49T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 33