ClinVar for MedGen (Select 5715) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523536	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2 (K172E)	Single nucleotide variant (missense variant)	RASopathy +10 more	GUncertain significance
Select item 132790	NM_003739.6(AKR1C3):c.643G>A (p.Ala215Thr)	AKR1C3 (A215T)	Single nucleotide variant (missense variant)	Hypotension	Gnot provided
Select item 132789	NM_001818.5(AKR1C4):c.447+9T>G	AKR1C4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 132788	NM_001300.6(KLF6):c.800+34G>A	KLF6	Single nucleotide variant (intron variant)	Hypotension	Gnot provided
Select item 132787	NM_001300.6(KLF6):c.800+21C>T	KLF6	Single nucleotide variant (intron variant)	Hypotension	Gnot provided
Select item 132786	NM_001300.6(KLF6):c.603G>A (p.Arg201=)	KLF6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 132785	NM_001300.6(KLF6):c.496C>T (p.Pro166Ser)	KLF6 (P166S)	Single nucleotide variant (missense variant +1 more)	Hypotension	Gnot provided
Select item 132784	NM_001300.6(KLF6):c.*62G>A	KLF6	Single nucleotide variant (3 prime UTR variant +1 more)	Hypotension	Gnot provided
Select item 132783	NM_001300.6(KLF6):c.*46A>T	KLF6	Single nucleotide variant (3 prime UTR variant +1 more)	Hypotension	Gnot provided
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 120244	NM_017637.6(BNC2):c.916C>G (p.Pro306Ala)	BNC2 (P306A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 120243	NM_017637.6(BNC2):c.84A>T (p.Ala28=)	BNC2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 120242	NM_017637.6(BNC2):c.519C>T (p.Ser173=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120241	NM_017637.6(BNC2):c.501C>T (p.Val167=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 120240	NM_017637.6(BNC2):c.2920A>G (p.Ile974Val)	BNC2 (I974V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 120237	NM_017637.6(BNC2):c.2739C>T (p.Arg913=)	BNC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 120236	NM_017637.6(BNC2):c.2478A>G (p.Leu826=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 120235	NM_017637.6(BNC2):c.2202C>T (p.Gly734=)	BNC2, LOC126860585	Single nucleotide variant (synonymous variant)	Hypotension	Gnot provided
Select item 120234	NM_017637.6(BNC2):c.2051C>T (p.Pro684Leu)	BNC2, LOC126860585 (P684L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 120232	NM_017637.6(BNC2):c.1868C>A (p.Pro623His)	BNC2, LOC126860585 (P623H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 120231	NM_017637.6(BNC2):c.1738G>A (p.Gly580Arg)	BNC2, LOC126860585 (G580R +2 more)	Single nucleotide variant (missense variant)	Hypotension	Gnot provided
Select item 120230	NM_017637.6(BNC2):c.171G>T (p.Gln57His)	BNC2 (Q57H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 120229	NM_017637.6(BNC2):c.1545A>G (p.Ser515=)	BNC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 120227	NM_017637.6(BNC2):c.1239T>C (p.Asp413=)	BNC2	Single nucleotide variant (synonymous variant)	Hypotension	Gnot provided
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

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Items: 29