ClinVar for Gene (Select 10057) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302703	NM_005688.4(ABCC5):c.3122G>T (p.Arg1041Leu)	ABCC5 (R1041L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302604	NM_005688.4(ABCC5):c.4027G>A (p.Ala1343Thr)	ABCC5 (A1343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302506	NM_005688.4(ABCC5):c.3754A>G (p.Lys1252Glu)	ABCC5 (K780E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	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 3128592	NM_005688.4(ABCC5):c.518T>A (p.Ile173Asn)	ABCC5 (I173N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3128561	NM_005688.4(ABCC5):c.3842G>T (p.Ser1281Ile)	ABCC5 (S1281I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128554	NM_005688.4(ABCC5):c.359G>A (p.Arg120His)	ABCC5 (R120H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3128551	NM_005688.4(ABCC5):c.358C>T (p.Arg120Cys)	ABCC5 (R120C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3128542	NM_005688.4(ABCC5):c.3533T>G (p.Ile1178Ser)	ABCC5 (I706S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128537	NM_005688.4(ABCC5):c.3419C>T (p.Thr1140Met)	ABCC5 (T1140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128530	NM_005688.4(ABCC5):c.3109C>T (p.Arg1037Trp)	ABCC5 (R1037W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128524	NM_005688.4(ABCC5):c.3013G>C (p.Gly1005Arg)	ABCC5 (G1005R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128513	NM_005688.4(ABCC5):c.2584A>T (p.Ile862Phe)	ABCC5 (I862F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128510	NM_005688.4(ABCC5):c.2518T>G (p.Ser840Ala)	ABCC5 (S368A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128495	NM_005688.4(ABCC5):c.220G>A (p.Glu74Lys)	ABCC5 (E74K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3128484	NM_005688.4(ABCC5):c.1907A>G (p.Asn636Ser)	ABCC5 (N164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128471	NM_005688.4(ABCC5):c.1279G>C (p.Asp427His)	ABCC5 (D427H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3128452	NM_005688.4(ABCC5):c.1166G>A (p.Arg389His)	ABCC5 (R389H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3128447	NM_005688.4(ABCC5):c.113T>C (p.Phe38Ser)	ABCC5 (F38S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 3025280	NM_005688.4(ABCC5):c.3203A>G (p.Asn1068Ser)	ABCC5 (N1068S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2654303	NM_005688.4(ABCC5):c.591+2369C>T	ABCC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2654302	NM_005688.4(ABCC5):c.1502C>A (p.Ser501Tyr)	ABCC5 (S29Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654301	NM_005688.4(ABCC5):c.2700G>A (p.Ser900=)	ABCC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624243	NM_005688.4(ABCC5):c.2222C>T (p.Thr741Ile)	ABCC5 (T269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624049	NM_005688.4(ABCC5):c.1243G>A (p.Val415Met)	ABCC5 (V415M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2604164	NM_005688.4(ABCC5):c.11T>A (p.Ile4Asn)	ABCC5 (I4N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603605	NM_005688.4(ABCC5):c.503G>A (p.Arg168Gln)	ABCC5 (R168Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594890	NM_005688.4(ABCC5):c.836T>C (p.Ile279Thr)	ABCC5 (I279T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588392	NM_005688.4(ABCC5):c.2897C>A (p.Thr966Asn)	ABCC5 (T966N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569788	NM_005688.4(ABCC5):c.2870G>A (p.Arg957Gln)	ABCC5 (R957Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568707	NM_005688.4(ABCC5):c.3545C>T (p.Ala1182Val)	ABCC5 (A710V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518189	NM_005688.4(ABCC5):c.1663G>A (p.Glu555Lys)	ABCC5 (E555K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509254	NM_005688.4(ABCC5):c.2383A>G (p.Asn795Asp)	ABCC5 (N323D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480654	NM_005688.4(ABCC5):c.3905C>G (p.Ala1302Gly)	ABCC5 (A1302G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477275	NM_005688.4(ABCC5):c.3071T>C (p.Leu1024Pro)	ABCC5 (L1024P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473548	NM_005688.4(ABCC5):c.540C>G (p.Ile180Met)	ABCC5 (I180M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456997	NM_005688.4(ABCC5):c.3916A>G (p.Thr1306Ala)	ABCC5 (T834A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425419	NC_000003.11:g.(?_182733226)_(184094097_?)del	CAMK2N2, CLCN2 +26 more	Deletion	ALG3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2425112	NC_000003.11:g.(?_183368145)_(184094097_?)del	ABCC5, ABCF3 +21 more	Deletion	not provided	GUncertain significance
Select item 2406876	NM_005688.4(ABCC5):c.1718G>A (p.Arg573His)	ABCC5 (R101H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399835	NM_005688.4(ABCC5):c.922A>G (p.Met308Val)	ABCC5 (M308V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392958	NM_005688.4(ABCC5):c.506G>A (p.Arg169Lys)	ABCC5 (R169K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391722	NM_005688.4(ABCC5):c.420G>C (p.Glu140Asp)	ABCC5 (E140D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386985	NM_005688.4(ABCC5):c.628G>A (p.Ala210Thr)	ABCC5 (A210T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2349569	NM_005688.4(ABCC5):c.2665G>A (p.Gly889Arg)	ABCC5 (G417R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336669	NM_005688.4(ABCC5):c.2014A>G (p.Ser672Gly)	ABCC5 (S672G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325303	NM_005688.4(ABCC5):c.1727G>A (p.Arg576Lys)	ABCC5 (R104K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319021	NM_005688.4(ABCC5):c.671G>A (p.Gly224Asp)	ABCC5 (G224D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2318270	NM_005688.4(ABCC5):c.1949A>G (p.Asp650Gly)	ABCC5 (D178G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278124	NM_005688.4(ABCC5):c.3853A>G (p.Arg1285Gly)	ABCC5 (R813G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278057	NM_005688.4(ABCC5):c.1279G>A (p.Asp427Asn)	ABCC5 (D427N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276765	NM_005688.4(ABCC5):c.3664A>C (p.Lys1222Gln)	ABCC5 (K750Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272934	NM_005688.4(ABCC5):c.2476G>A (p.Glu826Lys)	ABCC5 (E826K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271257	NM_005688.4(ABCC5):c.490G>A (p.Ala164Thr)	ABCC5 (A164T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269783	NM_005688.4(ABCC5):c.3608G>A (p.Arg1203Gln)	ABCC5 (R1203Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267832	NM_005688.4(ABCC5):c.4147A>T (p.Thr1383Ser)	ABCC5 (T911S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267713	NM_005688.4(ABCC5):c.4004G>A (p.Arg1335Gln)	ABCC5 (R1335Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262126	NM_005688.4(ABCC5):c.1270C>G (p.Leu424Val)	ABCC5 (L424V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259426	NM_005688.4(ABCC5):c.752G>A (p.Arg251Gln)	ABCC5 (R251Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2259348	NM_005688.4(ABCC5):c.896G>A (p.Gly299Glu)	ABCC5 (G299E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2236868	NM_005688.4(ABCC5):c.3088A>T (p.Ile1030Phe)	ABCC5 (I1030F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226642	NM_005688.4(ABCC5):c.734G>A (p.Arg245Gln)	ABCC5 (R245Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225142	NM_005688.4(ABCC5):c.4300G>A (p.Ala1434Thr)	ABCC5 (A962T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703654	GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)	ABCC5, ABCF3 +53 more	Copy number loss	Short stature	GPathogenic
Select item 1527063	GRCh37/hg19 3q27.1-27.3(chr3:183178932-186838042)	ABCC5, ABCF3 +49 more	Copy number loss	not specified	GPathogenic
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 1252281	NM_005688.4(ABCC5):c.1782T>C (p.Cys594=)	ABCC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814504	GRCh37/hg19 3q27.1(chr3:183312708-183647820)x3	YEATS2, PARL +3 more	Copy number gain	not provided	GUncertain significance
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 719665	NM_005688.4(ABCC5):c.825+10G>A	ABCC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713066	NM_005688.4(ABCC5):c.3213G>A (p.Gln1071=)	ABCC5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	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 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
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155230	GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1	ABCC5, ABCC5-AS1 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	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 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	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 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 151178	GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1	ABCC5, ABCC5-AS1 +126 more	Copy number loss	See cases	GLikely pathogenic
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 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148845	GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3	ABCC5, ABCC5-AS1 +63 more	Copy number gain	See cases	GUncertain significance

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