Related gene-specific medical variations for Gene (Select 6305) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360159	NM_002972.4(SBF1):c.5210T>C (p.Val1737Ala)	SBF1 (V1711A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248100	NC_000022.10:g.(?_50892921)_(50913269_?)dup	SBF1	Duplication	not provided	GUncertain significance
Select item 3248099	NC_000022.10:g.(?_50885571)_(50895560_?)del	SBF1	Deletion	not provided	GPathogenic
Select item 2690988	NM_002972.4(SBF1):c.5376C>T (p.Gly1792=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570609	NM_002972.4(SBF1):c.2879C>G (p.Ala960Gly)	SBF1 (A960G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435660	NM_002972.4(SBF1):c.431T>A (p.Val144Glu)	SBF1 (V144E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GUncertain significance
Select item 1330613	NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp)	SBF1 (R1645W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GUncertain significance
Select item 1120016	NM_002972.4(SBF1):c.2289C>T (p.Arg763=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3	GPathogenic
Select item 813629	NM_002972.4(SBF1):c.3547G>A (p.Val1183Met)	SBF1 (V1183M +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 809388	NM_002972.4(SBF1):c.4592A>C (p.Gln1531Pro)	SBF1 (Q1531P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618867	NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr)	SBF1 (H1488Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618359	NM_002972.4(SBF1):c.4437G>A (p.Val1479=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618354	NM_002972.4(SBF1):c.2899A>G (p.Ile967Val)	SBF1 (I967V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522873	NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly)	SBF1 (A483G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3	GUncertain significance