Related gene-specific medical variations for Gene (Select 1601) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655445	NM_001343.4(DAB2):c.1194del (p.Phe398fs)	DAB2, LOC126807371 (F377fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2598537	NM_001343.4(DAB2):c.922C>A (p.Pro308Thr)	DAB2, LOC126807371 (P308T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531468	NM_001343.4(DAB2):c.1034A>G (p.Gln345Arg)	DAB2, LOC126807371 (Q324R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490289	NM_001343.4(DAB2):c.1000G>T (p.Gly334Trp)	DAB2, LOC126807371 (G313W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383543	NM_001343.4(DAB2):c.800G>A (p.Arg267Gln)	DAB2, LOC126807371 (R267Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314205	NM_001343.4(DAB2):c.871A>G (p.Asn291Asp)	DAB2, LOC126807371 (N291D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303819	NM_001343.4(DAB2):c.1024T>C (p.Tyr342His)	DAB2, LOC126807371 (Y321H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262760	NM_001343.4(DAB2):c.1483G>A (p.Val495Met)	DAB2, LOC126807370 (V474M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223550	NM_001343.4(DAB2):c.901A>C (p.Thr301Pro)	DAB2, LOC126807371 (T301P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219140	NM_001343.4(DAB2):c.1274A>G (p.His425Arg)	DAB2, LOC126807371 (H425R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789138	NM_001343.4(DAB2):c.886C>T (p.Arg296Cys)	DAB2, LOC126807371 (R296C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740245	NM_001343.4(DAB2):c.888T>C (p.Arg296=)	DAB2, LOC126807371	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718436	NM_001343.4(DAB2):c.1288A>G (p.Ile430Val)	DAB2, LOC126807371 (I409V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign