"BNC2-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2077000	NM_017637.6(BNC2):c.3017C>T (p.Ala1006Val)	BNC2 (A1006V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	BNC2-related condition +1 more	GBenign/Likely benign
Select item 120239	NM_017637.6(BNC2):c.2789A>G (p.Asp930Gly)	BNC2 (D930G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	BNC2-related condition +1 more	GBenign/Likely benign
Select item 120238	NM_017637.6(BNC2):c.2768C>T (p.Ala923Val)	BNC2 (A923V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	BNC2-related condition +2 more	GBenign/Likely benign
Select item 3049679	NM_017637.6(BNC2):c.2636+496C>T	BNC2 (H852Y)	Single nucleotide variant (missense variant +1 more)	BNC2-related condition	GLikely benign
Select item 1656143	NM_017637.6(BNC2):c.2344A>G (p.Thr782Ala)	BNC2, LOC126860585 (T687A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3034255	NM_017637.6(BNC2):c.2208A>G (p.Glu736=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	BNC2-related condition	GLikely benign
Select item 1456811	NM_017637.6(BNC2):c.2159G>A (p.Arg720Gln)	BNC2, LOC126860585 (R625Q +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition +1 more	GLikely benign
Select item 2056029	NM_017637.6(BNC2):c.2124C>T (p.Ala708=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2049550	NM_017637.6(BNC2):c.2070C>T (p.Asp690=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	BNC2-related condition +1 more	GBenign/Likely benign
Select item 2704281	NM_017637.6(BNC2):c.1948G>A (p.Ala650Thr)	BNC2, LOC126860585 (A555T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 120233	NM_017637.6(BNC2):c.1947C>T (p.Thr649=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	BNC2-related condition +1 more	GBenign/Likely benign
Select item 2629468	NM_017637.6(BNC2):c.1802T>C (p.Ile601Thr)	BNC2, LOC126860585 (I506T +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition	GUncertain significance
Select item 2070219	NM_017637.6(BNC2):c.1801A>G (p.Ile601Val)	BNC2, LOC126860585 (I559V +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition +1 more	GBenign
Select item 778378	NM_017637.6(BNC2):c.1648T>G (p.Leu550Val)	BNC2 (L508V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 708491	NM_017637.6(BNC2):c.1542C>T (p.Thr514=)	BNC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 120228	NM_017637.6(BNC2):c.1240C>G (p.Leu414Val)	BNC2 (L414V +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition +1 more	GBenign
Select item 3032938	NM_017637.6(BNC2):c.1046G>A (p.Gly349Glu)	BNC2 (G254E +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 120226	NM_017637.6(BNC2):c.1002A>G (p.Pro334=)	BNC2	Single nucleotide variant (synonymous variant)	BNC2-related condition +1 more	GLikely benign
Select item 2630663	NM_017637.6(BNC2):c.982A>G (p.Ile328Val)	BNC2 (I233V +2 more)	Single nucleotide variant (missense variant)	BNC2-related condition	GUncertain significance
Select item 120245	NM_017637.6(BNC2):c.936C>T (p.Phe312=)	BNC2	Single nucleotide variant (synonymous variant)	BNC2-related condition +1 more	GBenign
Select item 2629180	NM_017637.6(BNC2):c.696C>G (p.Arg232=)	BNC2	Single nucleotide variant (synonymous variant)	BNC2-related condition	GUncertain significance
Select item 3050605	NM_017637.6(BNC2):c.669+10G>A	BNC2	Single nucleotide variant (intron variant)	BNC2-related condition	GLikely benign
Select item 778410	NM_017637.6(BNC2):c.167C>G (p.Thr56Arg)	BNC2 (T56R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 780784	NM_017637.6(BNC2):c.98C>T (p.Pro33Leu)	BNC2 (P33L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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Items: 24