13553[HGNC] - ClinVar

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Items: 90

	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 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
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 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 153971	GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1	ABCC5, ABCC5-AS1 +205 more	Copy number loss	See cases	GLikely pathogenic
Select item 3131329	NM_014616.3(ATP11B):c.45T>G (p.His15Gln)	ATP11B (H15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131331	NM_014616.3(ATP11B):c.70G>A (p.Val24Ile)	ATP11B (V24I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479237	NM_014616.3(ATP11B):c.97C>T (p.Leu33Phe)	ATP11B (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327744	NM_014616.3(ATP11B):c.118A>G (p.Ile40Val)	ATP11B (I40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353489	NM_014616.3(ATP11B):c.307A>G (p.Ile103Val)	ATP11B (I103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283042	NM_014616.3(ATP11B):c.352G>A (p.Glu118Lys)	ATP11B (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588251	NM_014616.3(ATP11B):c.494G>A (p.Arg165Gln)	ATP11B (R165Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131330	NM_014616.3(ATP11B):c.599A>G (p.Asn200Ser)	ATP11B (N200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507947	NM_014616.3(ATP11B):c.622A>G (p.Ile208Val)	ATP11B (I208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235838	NM_014616.3(ATP11B):c.668G>A (p.Arg223Gln)	ATP11B (R223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131332	NM_014616.3(ATP11B):c.715C>T (p.Pro239Ser)	ATP11B (P239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327705	NM_014616.3(ATP11B):c.776C>T (p.Ala259Val)	ATP11B (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327754	NM_014616.3(ATP11B):c.926A>G (p.Tyr309Cys)	ATP11B (Y309C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623339	NM_014616.3(ATP11B):c.995G>C (p.Ser332Thr)	ATP11B (S332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369567	NM_014616.3(ATP11B):c.1306C>G (p.Leu436Val)	ATP11B (L436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149403	GRCh38/hg38 3q26.33-27.1(chr3:182865842-183895718)x3	ATP11B, B3GNT5 +55 more	Copy number gain	See cases	GUncertain significance
Select item 2315369	NM_014616.3(ATP11B):c.1465T>G (p.Phe489Val)	ATP11B (F489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131319	NM_014616.3(ATP11B):c.1552G>A (p.Ala518Thr)	ATP11B (A518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131320	NM_014616.3(ATP11B):c.1659G>A (p.Met553Ile)	ATP11B (M553I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270743	NM_014616.3(ATP11B):c.1676G>C (p.Gly559Ala)	ATP11B (G559A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327694	NM_014616.3(ATP11B):c.1895A>G (p.Tyr632Cys)	ATP11B (Y632C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604376	NM_014616.3(ATP11B):c.1921G>A (p.Glu641Lys)	ATP11B (E641K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207208	NM_014616.3(ATP11B):c.1922A>G (p.Glu641Gly)	ATP11B (E641G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616515	NM_014616.3(ATP11B):c.1968G>C (p.Gln656His)	ATP11B (Q656H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269449	NM_014616.3(ATP11B):c.1991T>C (p.Val664Ala)	ATP11B (V664A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401888	NM_014616.3(ATP11B):c.2066G>A (p.Arg689Gln)	ATP11B (R689Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298033	NM_014616.3(ATP11B):c.2179A>T (p.Met727Leu)	ATP11B (M727L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131321	NM_014616.3(ATP11B):c.2195T>G (p.Leu732Arg)	ATP11B (L732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131322	NM_014616.3(ATP11B):c.2198T>C (p.Ile733Thr)	ATP11B (I733T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131323	NM_014616.3(ATP11B):c.2218G>A (p.Glu740Lys)	ATP11B (E740K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611605	NM_014616.3(ATP11B):c.2245G>T (p.Ala749Ser)	ATP11B (A749S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266781	NM_014616.3(ATP11B):c.2246C>T (p.Ala749Val)	ATP11B (A749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131324	NM_014616.3(ATP11B):c.2290G>T (p.Val764Leu)	ATP11B (V764L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327118	NM_014616.3(ATP11B):c.2350T>G (p.Cys784Gly)	ATP11B (C784G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230774	NM_014616.3(ATP11B):c.2381G>A (p.Arg794His)	ATP11B (R794H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327723	NM_014616.3(ATP11B):c.2606A>G (p.His869Arg)	ATP11B (H869R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131325	NM_014616.3(ATP11B):c.2752A>G (p.Ile918Val)	ATP11B (I918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570125	NM_014616.3(ATP11B):c.2773A>G (p.Ile925Val)	ATP11B (I925V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317529	NM_014616.3(ATP11B):c.2828A>G (p.Lys943Arg)	ATP11B (K943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327734	NM_014616.3(ATP11B):c.2848A>G (p.Ile950Val)	ATP11B (I950V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131326	NM_014616.3(ATP11B):c.2909G>T (p.Ser970Ile)	ATP11B (S970I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486463	NM_014616.3(ATP11B):c.2920A>G (p.Ile974Val)	ATP11B (I974V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225588	NM_014616.3(ATP11B):c.2957A>G (p.Asp986Gly)	ATP11B (D986G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349725	NM_014616.3(ATP11B):c.2958T>G (p.Asp986Glu)	ATP11B (D986E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311462	NM_014616.3(ATP11B):c.3215C>T (p.Ala1072Val)	ATP11B (A1072V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131327	NM_014616.3(ATP11B):c.3245C>T (p.Thr1082Ile)	ATP11B (T1082I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327675	NM_014616.3(ATP11B):c.3298A>G (p.Thr1100Ala)	ATP11B (T1100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327683	NM_014616.3(ATP11B):c.3316C>G (p.Gln1106Glu)	ATP11B (Q1106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327763	NM_014616.3(ATP11B):c.3338G>A (p.Gly1113Asp)	ATP11B (G1113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398077	NM_014616.3(ATP11B):c.3371C>T (p.Pro1124Leu)	ATP11B (P1124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362467	NM_014616.3(ATP11B):c.3371C>A (p.Pro1124Gln)	ATP11B (P1124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541965	NM_014616.3(ATP11B):c.3374A>G (p.Glu1125Gly)	ATP11B (E1125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131328	NM_014616.3(ATP11B):c.3382G>A (p.Ala1128Thr)	ATP11B (A1128T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2401006	NM_014616.3(ATP11B):c.3386C>T (p.Ala1129Val)	ATP11B (A1129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533323	NM_014616.3(ATP11B):c.3449G>C (p.Ser1150Thr)	ATP11B (S1150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508944	NM_014616.3(ATP11B):c.3487G>A (p.Asp1163Asn)	ATP11B (D1163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334672	NM_014616.3(ATP11B):c.3512C>A (p.Thr1171Lys)	ATP11B (T1171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327716	NM_014616.3(ATP11B):c.3524C>G (p.Ser1175Cys)	ATP11B (S1175C)	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 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
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 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
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 1527061	GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935)	ABCC5, ABCF3 +59 more	Copy number loss	not specified	GPathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 986761	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1	ATP11B, SOX2 +11 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 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 562846	GRCh37/hg19 3q26.33-27.1(chr3:182530969-182703096)x1	DCUN1D1, ATP11B	Copy number loss	not provided	GUncertain significance
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 394777	GRCh37/hg19 3q26.33-27.1(chr3:182513778-182737878)x3	ATP11B, DCUN1D1 +1 more	Copy number gain	See cases	GLikely benign
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 90