Related gene-specific medical variations for Gene (Select 2785) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343293	NM_001122955.4(BSCL2):c.58G>C (p.Asp20His)	BSCL2, GNG3 +1 more (D20H)	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 2410131	NM_012202.5(GNG3):c.145G>A (p.Ala49Thr)	BSCL2, GNG3 +2 more (A49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1699870	NM_001122955.4(BSCL2):c.78C>G (p.Asp26Glu)	HNRNPUL2-BSCL2, BSCL2 +1 more (D26E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1321543	NM_001386027.1(BSCL2):c.-129-861C>T	BSCL2, GNG3 +2 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320031	NC_000011.10:g.62707486C>T	GNG3, HNRNPUL2-BSCL2 +1 more	Single nucleotide variant (intron variant)	Breast carcinoma +2 more	GPathogenic
Select item 1293294	NM_001122955.4(BSCL2):c.87+64_87+66del	BSCL2, GNG3 +1 more	Deletion (intron variant)	not provided	GBenign
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 1250306	NM_001386027.1(BSCL2):c.-129-457C>G	BSCL2, GNG3 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1240787	NM_001386027.1(BSCL2):c.-129-653G>A	BSCL2, GNG3 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198651	NM_001122955.2(BSCL2):c.-525C>T	HNRNPUL2-BSCL2, BSCL2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1186485	NM_001122955.4(BSCL2):c.-88C>T	BSCL2, GNG3 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 985366	NM_012202.5(GNG3):c.12_13dup (p.Thr5fs)	GNG3, HNRNPUL2-BSCL2 +2 more (T5fs)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic
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 668736	NM_032667.6(BSCL2):c.-1574T>G	GNG3, HNRNPUL2-BSCL2 +1 more	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
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 424980	NM_012202.5(GNG3):c.91C>T (p.Arg31Trp)	LOC126861228, BSCL2 +2 more (R31W)	Single nucleotide variant (missense variant)	not provided	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)	not specified +2 more	GBenign

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Links from Gene

Items: 20