ANXA5[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 148260	GRCh38/hg38 4q27(chr4:121164018-122098913)x1	ANXA5, BBS7 +26 more	Copy number loss	See cases	GUncertain significance
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57894	GRCh38/hg38 4q27(chr4:121636147-122327601)x3	ANXA5, BBS7 +22 more	Copy number gain	See cases	GUncertain significance
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
Select item 1696785	NM_001154.4(ANXA5):c.-134G>A	ANXA5, LOC129993031	Single nucleotide variant (5 prime UTR variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696784	NC_000004.12:g.121697011A>G	ANXA5, LOC129993031	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696783	NC_000004.12:g.121697037T>G	ANXA5, LOC129993031	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696782	NC_000004.12:g.121697056C>T	ANXA5, LOC129993031	Single nucleotide variant	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 29691	Multiple alleles	ANXA5, LOC129993031	Single nucleotide variant (5 prime UTR variant)	Pregnancy loss, recurrent, susceptibility to, 3	Grisk factor
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	ADAD1, AFG2A +17 more	Deletion	not provided	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685989	GRCh37/hg19 4q27(chr4:122547685-123261107)x3	ANXA5, BBS7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, NDNF +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1527121	GRCh37/hg19 4q27(chr4:122577041-122794813)	ANXA5, BBS7 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	MYOZ2, PRDM5 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 688822	GRCh37/hg19 4q27(chr4:122547684-123268279)x3	ANXA5, BBS7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 58