RNF112[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	AKAP10, ALDH3A1 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	LOC130060441, LOC130060442 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	LOC132090457, LOC132090458 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	LOC130060388, LOC130060389 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	LOC130060437, LOC130060438 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	LOC130060452, LOC130060453 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	LOC130060452, LOC130060453 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	LOC130060362, LOC130060363 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 60135	GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3	AKAP10, ALDH3A1 +116 more	Copy number gain	See cases	GUncertain significance
Select item 2228868	NM_007148.5(RNF112):c.122A>G (p.Glu41Gly)	RNF112 (E41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342748	NM_007148.5(RNF112):c.124C>A (p.Leu42Ile)	RNF112 (L42I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241414	NM_007148.5(RNF112):c.155G>A (p.Arg52Gln)	RNF112 (R52Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398551	NM_007148.5(RNF112):c.194G>A (p.Arg65His)	RNF112 (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377778	NM_007148.5(RNF112):c.502C>G (p.Pro168Ala)	RNF112 (P168A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370178	NM_007148.5(RNF112):c.517G>A (p.Ala173Thr)	RNF112 (A173T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322064	NM_007148.5(RNF112):c.628T>A (p.Ser210Thr)	RNF112 (S210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456733	NM_007148.5(RNF112):c.661C>T (p.Leu221Phe)	RNF112 (L221F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465980	NM_007148.5(RNF112):c.664G>A (p.Ala222Thr)	RNF112 (A222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 726542	NM_007148.5(RNF112):c.744A>G (p.Thr248=)	RNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545637	NM_007148.5(RNF112):c.757A>T (p.Ser253Cys)	RNF112 (S253C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495956	NM_007148.5(RNF112):c.853G>T (p.Asp285Tyr)	RNF112 (D285Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253501	NM_007148.5(RNF112):c.940G>T (p.Asp314Tyr)	RNF112 (D314Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478548	NM_007148.5(RNF112):c.1002C>G (p.Ile334Met)	RNF112 (I334M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299790	NM_007148.5(RNF112):c.1094G>A (p.Arg365Gln)	RNF112 (R365Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350172	NM_007148.5(RNF112):c.1108G>A (p.Gly370Ser)	RNF112 (G370S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280625	NM_007148.5(RNF112):c.1165G>A (p.Val389Ile)	RNF112 (V389I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407498	NM_007148.5(RNF112):c.1180A>C (p.Ser394Arg)	RNF112 (S394R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280883	NM_007148.5(RNF112):c.1198G>A (p.Ala400Thr)	RNF112 (A400T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306173	NM_007148.5(RNF112):c.1223G>C (p.Trp408Ser)	RNF112 (W408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621666	NM_007148.5(RNF112):c.1369G>C (p.Asp457His)	RNF112 (D457H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647562	NM_007148.5(RNF112):c.1675A>G (p.Met559Val)	RNF112 (M559V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720535	NM_007148.5(RNF112):c.1797C>T (p.Gly599=)	RNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	TOP3A, TRIM16L +44 more	Copy number loss	not provided	GPathogenic
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2422990	NC_000017.10:g.(?_19246632)_(19578885_?)dup	ALDH3A2, B9D1 +4 more	Duplication	not provided	GUncertain significance
Select item 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance

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