6852[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938326, LOC129938327 +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	LOC129938320, LOC129938321 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ABCC5, ABCC5-AS1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ZMAT3, ZNF639 +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 3238952	GRCh38/hg38 3q27.1-27.2(chr3:183020090-185760128)x1	LOC121048724, LOC121048725 +160 more	Copy number loss	Esodeviation +7 more	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 150107	GRCh38/hg38 3q27.2-27.3(chr3:184843627-187461008)x3	ADIPOQ, ADIPOQ-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 152989	GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1	C3orf70, EHHADH +22 more	Copy number loss	See cases	GPathogenic
Select item 3293012	NM_004721.5(MAP3K13):c.13C>G (p.Gln5Glu)	MAP3K13 (Q5E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472801	NM_004721.5(MAP3K13):c.44A>G (p.His15Arg)	MAP3K13 (H15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254598	NM_004721.5(MAP3K13):c.58G>A (p.Glu20Lys)	MAP3K13 (E20K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654329	NM_004721.5(MAP3K13):c.130G>A (p.Glu44Lys)	MAP3K13 (E44K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2598834	NM_004721.5(MAP3K13):c.158G>A (p.Arg53Gln)	MAP3K13 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2473588	NM_004721.5(MAP3K13):c.172G>A (p.Glu58Lys)	MAP3K13 (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218238	NM_004721.5(MAP3K13):c.234C>A (p.Asp78Glu)	MAP3K13 (D78E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122868	NM_004721.5(MAP3K13):c.250G>A (p.Val84Ile)	MAP3K13 (V84I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122872	NM_004721.5(MAP3K13):c.287C>T (p.Ala96Val)	MAP3K13 (A96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293010	NM_004721.5(MAP3K13):c.289G>T (p.Val97Leu)	MAP3K13 (V97L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122873	NM_004721.5(MAP3K13):c.311C>T (p.Thr104Met)	MAP3K13 (T104M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122874	NM_004721.5(MAP3K13):c.358T>A (p.Phe120Ile)	MAP3K13 (F120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122875	NM_004721.5(MAP3K13):c.511C>A (p.Leu171Met)	MAP3K13 (L171M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546274	NM_004721.5(MAP3K13):c.589G>C (p.Val197Leu)	MAP3K13 (V197L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318520	NM_004721.5(MAP3K13):c.608C>T (p.Thr203Met)	MAP3K13 (T203M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293600	NM_004721.5(MAP3K13):c.671C>T (p.Thr224Ile)	MAP3K13 (T17I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540822	NM_004721.5(MAP3K13):c.976C>T (p.Arg326Trp)	MAP3K13 (R119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238445	NM_004721.5(MAP3K13):c.1065T>A (p.Asp355Glu)	MAP3K13 (D355E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293014	NM_004721.5(MAP3K13):c.1202G>A (p.Arg401Gln)	MAP3K13 (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389416	NM_004721.5(MAP3K13):c.1246G>A (p.Ala416Thr)	MAP3K13 (A209T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122856	NM_004721.5(MAP3K13):c.1283A>C (p.Glu428Ala)	MAP3K13 (E221A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592256	NM_004721.5(MAP3K13):c.1346G>A (p.Arg449Gln)	MAP3K13 (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784471	NM_004721.5(MAP3K13):c.1395G>A (p.Ala465=)	MAP3K13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3122857	NM_004721.5(MAP3K13):c.1411C>A (p.His471Asn)	MAP3K13 (H471N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381735	NM_004721.5(MAP3K13):c.1433G>A (p.Arg478Gln)	MAP3K13 (R478Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508471	NM_004721.5(MAP3K13):c.1507C>T (p.Arg503Cys)	MAP3K13 (R296C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122858	NM_004721.5(MAP3K13):c.1550G>A (p.Arg517Gln)	MAP3K13 (R517Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122859	NM_004721.5(MAP3K13):c.1562G>A (p.Arg521His)	MAP3K13 (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570010	NM_004721.5(MAP3K13):c.1576C>T (p.Pro526Ser)	MAP3K13 (P319S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122860	NM_004721.5(MAP3K13):c.1593A>C (p.Lys531Asn)	MAP3K13 (K531N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293017	NM_004721.5(MAP3K13):c.1738A>C (p.Ser580Arg)	LOC126806894, MAP3K13 (S373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322762	NM_004721.5(MAP3K13):c.1754G>A (p.Arg585Gln)	LOC126806894, MAP3K13 (R585Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122861	NM_004721.5(MAP3K13):c.1765C>T (p.Arg589Cys)	LOC126806894, MAP3K13 (R589C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290438	NM_004721.5(MAP3K13):c.1766G>A (p.Arg589His)	LOC126806894, MAP3K13 (R589H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614623	NM_004721.5(MAP3K13):c.1772G>A (p.Arg591His)	LOC126806894, MAP3K13 (R591H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122862	NM_004721.5(MAP3K13):c.1843T>A (p.Ser615Thr)	LOC126806894, MAP3K13 (S408T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122863	NM_004721.5(MAP3K13):c.1885C>A (p.Pro629Thr)	LOC126806894, MAP3K13 (P422T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351820	NM_004721.5(MAP3K13):c.1945T>C (p.Ser649Pro)	LOC126806894, MAP3K13 (S649P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284826	NM_004721.5(MAP3K13):c.1954C>T (p.His652Tyr)	LOC126806894, MAP3K13 (H445Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613828	NM_004721.5(MAP3K13):c.1958A>G (p.His653Arg)	LOC126806894, MAP3K13 (H446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122864	NM_004721.5(MAP3K13):c.2020G>A (p.Gly674Ser)	LOC126806894, MAP3K13 (G674S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561283	NM_004721.5(MAP3K13):c.2077G>A (p.Gly693Ser)	LOC126806894, MAP3K13 (G486S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469673	NM_004721.5(MAP3K13):c.2081C>T (p.Ser694Leu)	LOC126806894, MAP3K13 (S487L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293016	NM_004721.5(MAP3K13):c.2207G>A (p.Arg736Lys)	LOC126806894, MAP3K13 (R529K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122865	NM_004721.5(MAP3K13):c.2252T>A (p.Val751Glu)	LOC126806894, MAP3K13 (V544E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623158	NM_004721.5(MAP3K13):c.2293C>A (p.Pro765Thr)	LOC126806894, MAP3K13 (P558T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411515	NM_004721.5(MAP3K13):c.2296C>G (p.Leu766Val)	LOC126806894, MAP3K13 (L766V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395076	NM_004721.5(MAP3K13):c.2371G>A (p.Gly791Ser)	LOC126806894, MAP3K13 (G584S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122866	NM_004721.5(MAP3K13):c.2377T>C (p.Ser793Pro)	LOC126806894, MAP3K13 (S586P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122867	NM_004721.5(MAP3K13):c.2383C>T (p.Leu795Phe)	LOC126806894, MAP3K13 (L795F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293013	NM_004721.5(MAP3K13):c.2399C>T (p.Ala800Val)	LOC126806894, MAP3K13 (A800V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225164	NM_004721.5(MAP3K13):c.2417G>A (p.Arg806Lys)	LOC126806894, MAP3K13 (R599K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293015	NM_004721.5(MAP3K13):c.2513G>A (p.Cys838Tyr)	LOC126806895, MAP3K13 (C838Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122869	NM_004721.5(MAP3K13):c.2516T>C (p.Ile839Thr)	LOC126806895, MAP3K13 (I632T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322056	NM_004721.5(MAP3K13):c.2594A>G (p.Asp865Gly)	LOC126806895, MAP3K13 (D658G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254178	NM_004721.5(MAP3K13):c.2638C>T (p.Arg880Cys)	LOC126806895, MAP3K13 (R673C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543746	NM_004721.5(MAP3K13):c.2647G>A (p.Glu883Lys)	LOC126806895, MAP3K13 (E883K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293011	NM_004721.5(MAP3K13):c.2674A>G (p.Thr892Ala)	LOC126806895, MAP3K13 (T685A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351367	NM_004721.5(MAP3K13):c.2743C>T (p.Arg915Cys)	LOC126806895, MAP3K13 (R915C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403419	NM_004721.5(MAP3K13):c.2822C>T (p.Ser941Leu)	MAP3K13 (S734L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122871	NM_004721.5(MAP3K13):c.2839G>C (p.Asp947His)	MAP3K13 (D740H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +557 more	Copy number loss	See cases	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 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062690	GRCh37/hg19 3q27.1-27.2(chr3:183822591-185678620)x3	ABCF3, ALG3 +26 more	Copy number gain	not specified	GUncertain significance
Select item 2685944	GRCh37/hg19 3q27.2(chr3:184927042-185128929)x3	EHHADH, MAP3K13	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	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1809046	GRCh37/hg19 3q27.1-28(chr3:184170962-188047867)x1	ADIPOQ, AHSG +32 more	Copy number loss	not provided	GLikely pathogenic
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 1527064	GRCh37/hg19 3q27.2(chr3:185135104-185741504)	IGF2BP2, LIPH +4 more	Copy number gain	not specified	GUncertain significance
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 980554	GRCh37/hg19 3q27.1-27.3(chr3:182877291-186830759)x1	CLCN2, YEATS2 +52 more	Copy number loss	not provided	GPathogenic
Select item 814506	GRCh37/hg19 3q27.1-27.2(chr3:184493051-185493146)x3	LIPH, EHHADH +6 more	Copy number gain	not provided	GUncertain significance
Select item 814505	GRCh37/hg19 3q27.1-27.3(chr3:183789584-186034649)x1	DVL3, ALG3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 686996	GRCh37/hg19 3q27.2(chr3:184926732-185124302)x3	EHHADH, MAP3K13	Copy number gain	not provided	GUncertain significance

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