RFC4[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +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	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +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	ABCC5, ABCC5-AS1 +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	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	LOC129938004, LOC129938005 +399 more	Copy number loss	See cases	GPathogenic
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 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	LOC110121069, LOC110121110 +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 1268726	NM_002916.5(RFC4):c.996+9G>A	RFC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2412565	NM_002916.5(RFC4):c.925C>G (p.Gln309Glu)	RFC4 (Q309E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213005	NM_002916.5(RFC4):c.923A>T (p.Asn308Ile)	RFC4 (N308I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277744	NM_002916.5(RFC4):c.917T>A (p.Leu306His)	RFC4 (L306H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278955	NM_002916.5(RFC4):c.827G>A (p.Gly276Glu)	RFC4 (G276E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262728	NM_002916.5(RFC4):c.812C>T (p.Ala271Val)	RFC4 (A271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269132	NM_002916.5(RFC4):c.805A>G (p.Ile269Val)	RFC4 (I269V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524999	NM_002916.5(RFC4):c.494G>A (p.Arg165His)	RFC4 (R165H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454458	NM_002916.5(RFC4):c.404G>A (p.Arg135His)	RFC4 (R135H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313127	NM_002916.5(RFC4):c.341G>A (p.Arg114His)	RFC4 (R114H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612507	NM_002916.5(RFC4):c.44C>G (p.Pro15Arg)	RFC4 (P15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2426290	NC_000003.11:g.(?_186256485)_(187009420_?)dup	ADIPOQ, AHSG +14 more	Duplication	3MC syndrome 1	GUncertain significance
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 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 1527065	GRCh37/hg19 3q27.3(chr3:186149060-186599706)	ADIPOQ, AHSG +10 more	Copy number loss	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 1340079	GRCh37/hg19 3q27.3(chr3:186507766-186640870)x3	ADIPOQ, RFC4	Copy number gain	not provided	GLikely benign
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 980556	GRCh37/hg19 3q27.3(chr3:186493742-186668140)x3	SNORA81, ADIPOQ +4 more	Copy number gain	not provided	GLikely benign
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 832891	NC_000003.11:g.(?_186256465)_(187009440_?)del	HRG, TBCCD1 +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 814507	GRCh37/hg19 3q27.2-27.3(chr3:185879162-187446035)x1	ST6GAL1, DNAJB11 +19 more	Copy number loss	not provided	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 688039	GRCh37/hg19 3q27.3(chr3:186493742-186672011)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686708	GRCh37/hg19 3q27.3(chr3:186493742-186672007)x3	ADIPOQ, EIF4A2 +4 more	Copy number gain	not provided	GUncertain significance
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 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 531899	NC_000003.11:g.(?_186256465)_(186980528_?)del	FETUB, HRG +14 more	Deletion	3MC syndrome 1	GPathogenic
Select item 523279	GRCh37/hg19 3q27.1-28(chr3:184300169-188285627)	FETUB, HRG +32 more	Copy number loss	Cognitive impairment +1 more	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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 394816	GRCh37/hg19 3q27.2-27.3(chr3:185419048-186575415)x1	ADIPOQ, AHSG +14 more	Copy number loss	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 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 57