Related gene-specific medical variations for Gene (Select 8424) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260528	NM_003986.3(BBOX1):c.41C>A (p.Ala14Asp)	BBOX1, BBOX1-AS1 (A14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260527	NM_003986.3(BBOX1):c.37G>A (p.Gly13Arg)	BBOX1, BBOX1-AS1 (G13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133141	NM_003986.3(BBOX1):c.841G>C (p.Asp281His)	BBOX1, BBOX1-AS1 (D281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133140	NM_003986.3(BBOX1):c.770T>C (p.Val257Ala)	BBOX1, BBOX1-AS1 (V257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133139	NM_003986.3(BBOX1):c.743C>T (p.Ala248Val)	BBOX1, BBOX1-AS1 (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133138	NM_003986.3(BBOX1):c.626A>G (p.His209Arg)	BBOX1, BBOX1-AS1 (H209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133136	NM_003986.3(BBOX1):c.535C>T (p.His179Tyr)	BBOX1, BBOX1-AS1 (H179Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133135	NM_003986.3(BBOX1):c.232T>A (p.Trp78Arg)	BBOX1, BBOX1-AS1 (W78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133133	NM_003986.3(BBOX1):c.1043G>T (p.Gly348Val)	BBOX1, BBOX1-AS1 (G348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035182	NM_003986.3(BBOX1):c.960C>A (p.Leu320=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	BBOX1-related disorder	GLikely benign
Select item 2608974	NM_003986.3(BBOX1):c.209A>T (p.Asp70Val)	BBOX1, BBOX1-AS1 (D70V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588349	NM_003986.3(BBOX1):c.350G>T (p.Gly117Val)	BBOX1, BBOX1-AS1 (G117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553336	NM_003986.3(BBOX1):c.346T>C (p.Trp116Arg)	BBOX1, BBOX1-AS1 (W116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550364	NM_003986.3(BBOX1):c.1157G>A (p.Gly386Glu)	BBOX1, BBOX1-AS1 (G386E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542345	NM_003986.3(BBOX1):c.959T>G (p.Leu320Arg)	BBOX1, BBOX1-AS1 (L320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525060	NM_003986.3(BBOX1):c.505A>C (p.Met169Leu)	BBOX1, BBOX1-AS1 (M169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367221	NM_003986.3(BBOX1):c.8G>C (p.Cys3Ser)	BBOX1, BBOX1-AS1 (C3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354170	NM_003986.3(BBOX1):c.363G>C (p.Gln121His)	BBOX1, BBOX1-AS1 (Q121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323795	NM_003986.3(BBOX1):c.77A>C (p.Glu26Ala)	BBOX1, BBOX1-AS1 (E26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302222	NM_003986.3(BBOX1):c.616C>G (p.Pro206Ala)	BBOX1, BBOX1-AS1 (P206A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296685	NM_003986.3(BBOX1):c.266A>T (p.Asp89Val)	BBOX1, BBOX1-AS1 (D89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285444	NM_003986.3(BBOX1):c.241G>A (p.Glu81Lys)	BBOX1, BBOX1-AS1 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261223	NM_003986.3(BBOX1):c.116C>T (p.Pro39Leu)	BBOX1, BBOX1-AS1 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253676	NM_003986.3(BBOX1):c.1007A>T (p.Asp336Val)	BBOX1, BBOX1-AS1 (D336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246104	NM_003986.3(BBOX1):c.247T>A (p.Tyr83Asn)	BBOX1, BBOX1-AS1 (Y83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243077	NM_003986.3(BBOX1):c.151C>T (p.Arg51Trp)	BBOX1, BBOX1-AS1 (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239433	NM_003986.3(BBOX1):c.981G>C (p.Lys327Asn)	BBOX1, BBOX1-AS1 (K327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223780	NM_003986.3(BBOX1):c.1013T>A (p.Ile338Asn)	BBOX1, BBOX1-AS1 (I338N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780965	NM_003986.3(BBOX1):c.621C>T (p.Ala207=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778515	NM_003986.3(BBOX1):c.930T>C (p.Phe310=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735727	NM_003986.3(BBOX1):c.399T>C (p.Tyr133=)	BBOX1, BBOX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign

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Links from Gene

Items: 31