2814[Gene ID] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 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 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 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 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 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 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 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
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	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 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 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 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 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 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 2609862	NM_004488.2(GP5):c.1628T>C (p.Met543Thr)	GP5 (M543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598758	NM_004488.2(GP5):c.1564T>A (p.Trp522Arg)	GP5 (W522R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260026	NM_004488.2(GP5):c.1408G>T (p.Ala470Ser)	GP5 (A470S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282008	NM_004488.2(GP5):c.1400G>A (p.Gly467Glu)	GP5 (G467E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101062	NM_004488.2(GP5):c.1336G>A (p.Glu446Lys)	GP5 (E446K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101061	NM_004488.2(GP5):c.1310G>A (p.Arg437Gln)	GP5 (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101059	NM_004488.2(GP5):c.1234C>G (p.Arg412Gly)	GP5 (R412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282009	NM_004488.2(GP5):c.1200G>T (p.Glu400Asp)	GP5 (E400D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101058	NM_004488.2(GP5):c.1088G>A (p.Gly363Asp)	GP5, LOC129938198 (G363D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205451	NM_004488.2(GP5):c.1081G>A (p.Gly361Ser)	GP5, LOC129938198 (G361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559672	NM_004488.2(GP5):c.1066G>T (p.Asp356Tyr)	GP5 (D356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539113	NM_004488.2(GP5):c.1066G>C (p.Asp356His)	GP5 (D356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621541	NM_004488.2(GP5):c.1064C>G (p.Pro355Arg)	GP5 (P355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475862	NM_004488.2(GP5):c.988C>T (p.Leu330Phe)	GP5 (L330F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479203	NM_004488.2(GP5):c.977G>C (p.Arg326Pro)	GP5 (R326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770150	NM_004488.2(GP5):c.973C>T (p.Pro325Ser)	GP5 (P325S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2363270	NM_004488.2(GP5):c.950G>T (p.Arg317Leu)	GP5 (R317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605374	NM_004488.2(GP5):c.943C>G (p.Arg315Gly)	GP5 (R315G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3282006	NM_004488.2(GP5):c.872G>A (p.Gly291Asp)	GP5 (G291D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483030	NM_004488.2(GP5):c.757C>T (p.His253Tyr)	GP5 (H253Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101066	NM_004488.2(GP5):c.736T>A (p.Ser246Thr)	GP5 (S246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357252	NM_004488.2(GP5):c.719G>A (p.Arg240Gln)	GP5 (R240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303565	NM_004488.2(GP5):c.718C>T (p.Arg240Trp)	GP5 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101065	NM_004488.2(GP5):c.662C>T (p.Thr221Met)	GP5 (T221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268414	NM_004488.2(GP5):c.655G>A (p.Ala219Thr)	GP5 (A219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618768	NM_004488.2(GP5):c.638T>C (p.Leu213Pro)	GP5 (L213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282005	NM_004488.2(GP5):c.614G>A (p.Arg205His)	GP5 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282776	NM_004488.2(GP5):c.613C>T (p.Arg205Cys)	GP5 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101064	NM_004488.2(GP5):c.398C>T (p.Ala133Val)	GP5 (A133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522431	NM_004488.2(GP5):c.395A>G (p.Asn132Ser)	GP5 (N132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298960	NM_004488.2(GP5):c.322A>G (p.Asn108Asp)	GP5 (N108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101063	NM_004488.2(GP5):c.263C>T (p.Ala88Val)	GP5 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593420	NM_004488.2(GP5):c.181G>C (p.Gly61Arg)	GP5 (G61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556164	NM_004488.2(GP5):c.47C>T (p.Ala16Val)	GP5 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2685949	GRCh37/hg19 3q29(chr3:193843129-194259647)x3	ATP13A3, CPN2 +3 more	Copy number gain	not provided	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 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
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 1527069	GRCh37/hg19 3q29(chr3:193836939-194169926)	ATP13A3, CPN2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527068	GRCh37/hg19 3q29(chr3:192607378-194745252)	ATP13A3, ATP13A4 +11 more	Copy number loss	not specified	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 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 394725	GRCh37/hg19 3q29(chr3:193952869-194669386)x3	ATP13A3, CPN2 +5 more	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 252983	GRCh37/hg19 3q29(chr3:193944478-194483962)x1	ATP13A3, CPN2 +5 more	Copy number loss	See cases	GUncertain significance
Select item 221436	GRCh37/hg19 3q29(chr3:193333511-194338436)x3	ATP13A3, CPN2 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 77