Related gene-specific medical variations for Gene (Select 59272) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261255	NM_203281.3(BMX):c.1198C>T (p.Pro400Ser)	ACE2, BMX (P399S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134639	NM_203281.3(BMX):c.640G>A (p.Ala214Thr)	ACE2, BMX (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134636	NM_203281.3(BMX):c.1862T>C (p.Val621Ala)	ACE2, BMX (V620A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134635	NM_203281.3(BMX):c.1711G>C (p.Gly571Arg)	ACE2, BMX (G570R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2660055	NM_203281.3(BMX):c.1611+6C>A	ACE2, BMX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660054	NM_203281.3(BMX):c.1242A>G (p.Arg414=)	ACE2, BMX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2592450	NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)	ACE2, BMX (R632W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516141	NM_203281.3(BMX):c.904T>G (p.Ser302Ala)	ACE2, BMX (S301A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491784	NM_203281.3(BMX):c.542A>G (p.Lys181Arg)	ACE2, BMX (K181R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472382	NM_203281.3(BMX):c.1499A>T (p.Tyr500Phe)	ACE2, BMX (Y500F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367891	NM_203281.3(BMX):c.635G>C (p.Ser212Thr)	ACE2, BMX (S212T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345989	NM_203281.3(BMX):c.1408C>G (p.Pro470Ala)	ACE2, BMX (P469A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300427	NM_001371415.1(ACE2):c.155C>G (p.Thr52Ser)	ACE2, LOC126863214 (T52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260514	NM_203281.3(BMX):c.1951G>A (p.Glu651Lys)	ACE2, BMX (E650K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249252	NM_203281.3(BMX):c.1711G>A (p.Gly571Arg)	ACE2, BMX (G571R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 739305	NM_203281.3(BMX):c.1796-9G>C	ACE2, BMX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 728813	NM_203281.3(BMX):c.641C>T (p.Ala214Val)	ACE2, BMX (A214V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722714	NM_203281.3(BMX):c.1602C>T (p.His534=)	ACE2, BMX	Single nucleotide variant (synonymous variant)	not provided	GBenign