ANXA5[gene] and "single gene"[properties] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2227090	NM_001154.4(ANXA5):c.896T>C (p.Met299Thr)	ANXA5 (M299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049443	NM_001154.4(ANXA5):c.836T>C (p.Ile279Thr)	ANXA5 (I279T)	Single nucleotide variant (missense variant)	ANXA5-related disorder	GLikely benign
Select item 3127304	NM_001154.4(ANXA5):c.814G>A (p.Val272Ile)	ANXA5 (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712995	NM_001154.4(ANXA5):c.771T>C (p.Tyr257=)	ANXA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3127303	NM_001154.4(ANXA5):c.710T>A (p.Leu237His)	ANXA5 (L237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384068	NM_001154.4(ANXA5):c.658C>G (p.Gln220Glu)	ANXA5 (Q220E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235034	NM_001154.4(ANXA5):c.652G>C (p.Gly218Arg)	ANXA5 (G218R)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 3	GUncertain significance
Select item 2534030	NM_001154.4(ANXA5):c.602G>T (p.Arg201Leu)	ANXA5 (R201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533190	NM_001154.4(ANXA5):c.575A>G (p.Glu192Gly)	ANXA5 (E192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127302	NM_001154.4(ANXA5):c.563G>C (p.Gly188Ala)	ANXA5 (G188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735801	NM_001154.4(ANXA5):c.510T>C (p.Ala170=)	ANXA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3127300	NM_001154.4(ANXA5):c.431A>G (p.Asp144Gly)	ANXA5 (D144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127299	NM_001154.4(ANXA5):c.421G>A (p.Val141Met)	ANXA5 (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295654	NM_001154.4(ANXA5):c.382G>C (p.Val128Leu)	ANXA5 (V128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326155	NM_001154.4(ANXA5):c.341T>G (p.Ile114Ser)	ANXA5 (I114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212121	NM_001154.4(ANXA5):c.296C>T (p.Ala99Val)	ANXA5 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341052	NM_001154.4(ANXA5):c.265C>T (p.Arg89Trp)	ANXA5 (R89W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234025	NM_001154.4(ANXA5):c.260C>G (p.Pro87Arg)	ANXA5 (P87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778158	NM_001154.4(ANXA5):c.242T>C (p.Ile81Thr)	ANXA5 (I81T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3127298	NM_001154.4(ANXA5):c.160T>A (p.Ser54Thr)	ANXA5 (S54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265328	NM_001154.4(ANXA5):c.119C>T (p.Thr40Ile)	ANXA5 (T40I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554696	NM_001154.4(ANXA5):c.78G>T (p.Lys26Asn)	ANXA5 (K26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127301	NM_001154.4(ANXA5):c.53G>A (p.Arg18Gln)	ANXA5 (R18Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617462	NM_001154.4(ANXA5):c.28A>G (p.Thr10Ala)	ANXA5 (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056546	NM_001154.4(ANXA5):c.-1C>T	ANXA5	Single nucleotide variant (5 prime UTR variant)	ANXA5-related disorder	GBenign

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Items: 25