BF - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13685	NM_004300.4(ACP1):c.317A>G (p.Gln106Arg)	ACP1 (Q106R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1322012	NM_004628.5(XPC):c.1872+2T>C	XPC	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 3024216	NC_000005.10:g.(42700003_42711206)_(42719424_?)del	GHR	Deletion	Laron-type isolated somatotropin defect	GLikely pathogenic
Select item 16075	NM_001710.5(CFB):c.95G>A (p.Arg32Gln)	C2, CFB (R32Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 14 +7 more	GBenign/Likely benign
Select item 200415	NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)	KCNH2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2686005	NC_000007.14:g.(154772943_154794078)_(154894712_?)dup	DPP6	Duplication	Autism and apraxia	GUncertain significance
Select item 53047	NM_000218.3(KCNQ1):c.477+5G>A	KCNQ1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GPathogenic
Select item 53070	NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)	KCNQ1 (R190W +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GPathogenic/Likely pathogenic
Select item 53100	NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	KCNQ1 (R259C +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GPathogenic/Likely pathogenic
Select item 630829	NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe)	BRCA2 (S2616F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3250355	NC_000015.10:g.(?_22786657)_(28299516_?)dup	SNORD115-26, SNORD115-27 +162 more	Duplication	15q11q13 microduplication syndrome	GLikely pathogenic
Select item 182506	NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?)	HOXB13	Deletion (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; association
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity