ClinVar for Gene (Select 23527) - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261119	NM_012287.6(ACAP2):c.1069C>G (p.Gln357Glu)	ACAP2 (Q357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261108	NM_012287.6(ACAP2):c.1025A>C (p.Gln342Pro)	ACAP2 (Q342P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261097	NM_012287.6(ACAP2):c.218A>G (p.Asp73Gly)	ACAP2 (D73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261087	NM_012287.6(ACAP2):c.226G>A (p.Val76Ile)	ACAP2 (V76I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261077	NM_012287.6(ACAP2):c.625C>A (p.Leu209Met)	ACAP2 (L209M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3135617	NM_012287.6(ACAP2):c.802G>A (p.Val268Ile)	ACAP2 (V268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2541827	NM_012287.6(ACAP2):c.521T>G (p.Val174Gly)	ACAP2 (V174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520329	NM_012287.6(ACAP2):c.1973A>G (p.Glu658Gly)	ACAP2 (E658G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493352	NM_012287.6(ACAP2):c.1400T>C (p.Met467Thr)	ACAP2 (M467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490323	NM_012287.6(ACAP2):c.677G>A (p.Arg226Gln)	ACAP2 (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476687	NM_012287.6(ACAP2):c.1736C>T (p.Thr579Met)	ACAP2 (T579M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390630	NM_012287.6(ACAP2):c.2288A>G (p.Asn763Ser)	ACAP2 (N763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385456	NM_012287.6(ACAP2):c.500G>A (p.Arg167Gln)	ACAP2 (R167Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370840	NM_012287.6(ACAP2):c.1784C>A (p.Ser595Tyr)	ACAP2 (S595Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347933	NM_012287.6(ACAP2):c.2264G>A (p.Arg755His)	ACAP2 (R755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347381	NM_012287.6(ACAP2):c.2047G>A (p.Val683Ile)	ACAP2 (V683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330753	NM_012287.6(ACAP2):c.13G>C (p.Val5Leu)	ACAP2 (V5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327328	NM_012287.6(ACAP2):c.1320T>G (p.Ile440Met)	ACAP2 (I440M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294706	NM_012287.6(ACAP2):c.230A>T (p.Glu77Val)	ACAP2 (E77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266431	NM_012287.6(ACAP2):c.1787C>T (p.Ser596Phe)	ACAP2 (S596F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253520	NM_012287.6(ACAP2):c.786T>G (p.Asp262Glu)	ACAP2 (D262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250080	NM_012287.6(ACAP2):c.1784C>T (p.Ser595Phe)	ACAP2 (S595F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809441	GRCh37/hg19 3q29(chr3:193396762-195009038)x3	ACAP2, ATP13A3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 988913	GRCh37/hg19 3q29(chr3:194498718-196196789)x1	ACAP2, APOD +15 more	Copy number loss	not provided	GUncertain significance
Select item 980656	GRCh37/hg19 3q29(chr3:194855448-195067787)x1	XXYLT1, ACAP2	Copy number loss	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 973038	GRCh37/hg19 3q29(chr3:194161542-194998084)x3	ATP13A3, ACAP2 +4 more	Copy number gain	not provided	Gnot provided
Select item 785079	NM_012287.6(ACAP2):c.81T>C (p.Asp27=)	ACAP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688583	GRCh37/hg19 3q29(chr3:194915930-195088785)x1	ACAP2, XXYLT1	Copy number loss	not provided	GUncertain significance
Select item 688226	GRCh37/hg19 3q29(chr3:194896677-195137268)x3	ACAP2, XXYLT1	Copy number gain	not provided	GUncertain significance
Select item 686935	GRCh37/hg19 3q29(chr3:194897422-195152128)x3	ACAP2, XXYLT1	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394583	GRCh37/hg19 3q29(chr3:194789198-195142154)x3	ACAP2, XXYLT1	Copy number gain	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147389	GRCh38/hg38 3q29(chr3:195147600-195711857)x3	ACAP2, APOD +30 more	Copy number gain	See cases	GUncertain significance
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 69