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	ADORA2B, AKAP10 +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	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +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	LOC130060361, LOC130060362 +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	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +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	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +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	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +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	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +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	DRC3, LOC130060351 +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	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +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	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +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	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +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)	not specified	GUncertain significance
Select item 2342748	NM_007148.5(RNF112):c.124C>A (p.Leu42Ile)	RNF112 (L42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241414	NM_007148.5(RNF112):c.155G>A (p.Arg52Gln)	RNF112 (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398551	NM_007148.5(RNF112):c.194G>A (p.Arg65His)	RNF112 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314679	NM_007148.5(RNF112):c.235C>T (p.Arg79Trp)	RNF112 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377778	NM_007148.5(RNF112):c.502C>G (p.Pro168Ala)	RNF112 (P168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370178	NM_007148.5(RNF112):c.517G>A (p.Ala173Thr)	RNF112 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154943	NM_007148.5(RNF112):c.580C>T (p.Pro194Ser)	RNF112 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154944	NM_007148.5(RNF112):c.604G>A (p.Gly202Ser)	RNF112 (G202S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322064	NM_007148.5(RNF112):c.628T>A (p.Ser210Thr)	RNF112 (S210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456733	NM_007148.5(RNF112):c.661C>T (p.Leu221Phe)	RNF112 (L221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465980	NM_007148.5(RNF112):c.664G>A (p.Ala222Thr)	RNF112 (A222T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2495956	NM_007148.5(RNF112):c.853G>T (p.Asp285Tyr)	RNF112 (D285Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154945	NM_007148.5(RNF112):c.859G>A (p.Asp287Asn)	RNF112 (D287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253501	NM_007148.5(RNF112):c.940G>T (p.Asp314Tyr)	RNF112 (D314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154946	NM_007148.5(RNF112):c.961T>A (p.Ser321Thr)	RNF112 (S321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478548	NM_007148.5(RNF112):c.1002C>G (p.Ile334Met)	RNF112 (I334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299790	NM_007148.5(RNF112):c.1094G>A (p.Arg365Gln)	RNF112 (R365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350172	NM_007148.5(RNF112):c.1108G>A (p.Gly370Ser)	RNF112 (G370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280625	NM_007148.5(RNF112):c.1165G>A (p.Val389Ile)	RNF112 (V389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407498	NM_007148.5(RNF112):c.1180A>C (p.Ser394Arg)	RNF112 (S394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280883	NM_007148.5(RNF112):c.1198G>A (p.Ala400Thr)	RNF112 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154936	NM_007148.5(RNF112):c.1208G>A (p.Arg403His)	RNF112 (R403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306173	NM_007148.5(RNF112):c.1223G>C (p.Trp408Ser)	RNF112 (W408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154937	NM_007148.5(RNF112):c.1319G>A (p.Arg440Lys)	RNF112 (R440K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154938	NM_007148.5(RNF112):c.1369G>A (p.Asp457Asn)	RNF112 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621666	NM_007148.5(RNF112):c.1369G>C (p.Asp457His)	RNF112 (D457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154940	NM_007148.5(RNF112):c.1404C>A (p.Phe468Leu)	RNF112 (F468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154941	NM_007148.5(RNF112):c.1442G>T (p.Arg481Leu)	RNF112 (R481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314678	NM_007148.5(RNF112):c.1448T>C (p.Phe483Ser)	RNF112 (F483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154942	NM_007148.5(RNF112):c.1592C>T (p.Thr531Met)	RNF112 (T531M)	Single nucleotide variant (missense variant)	not specified	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	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +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

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