125170[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
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 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 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 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 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 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 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 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	MIR6778, MPRIP +158 more	Copy number loss	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 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 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 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	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 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 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 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	LOC125177431, LOC125177432 +117 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 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 2220800	NM_139162.4(MIEF2):c.-8+403G>A	MIEF2 (G2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345096	NM_139162.4(MIEF2):c.31C>T (p.Arg11Trp)	MIEF2 (R11W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294845	NM_139162.4(MIEF2):c.35G>A (p.Arg12His)	MIEF2 (R12H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374045	NM_139162.4(MIEF2):c.38G>T (p.Ser13Ile)	MIEF2 (S24I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126432	NM_139162.4(MIEF2):c.40G>A (p.Asp14Asn)	MIEF2 (D14N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468963	NM_139162.4(MIEF2):c.61G>A (p.Val21Met)	MIEF2 (V21M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126424	NM_139162.4(MIEF2):c.100G>A (p.Val34Met)	MIEF2 (V45M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126426	NM_139162.4(MIEF2):c.163A>G (p.Thr55Ala)	MIEF2 (T55A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364988	NM_139162.4(MIEF2):c.167G>A (p.Ser56Asn)	MIEF2 (S56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399112	NM_139162.4(MIEF2):c.173G>A (p.Arg58Gln)	MIEF2 (R58Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494323	NM_139162.4(MIEF2):c.230C>T (p.Thr77Ile)	MIEF2 (T77I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495732	NM_139162.4(MIEF2):c.232C>T (p.Pro78Ser)	MIEF2 (P78S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978475	NM_139162.4(MIEF2):c.241C>T (p.Gln81Ter)	MIEF2 (Q81*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 49	GPathogenic
Select item 2312165	NM_139162.4(MIEF2):c.247C>T (p.Arg83Trp)	MIEF2 (R94W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510733	NM_139162.4(MIEF2):c.278T>C (p.Val93Ala)	MIEF2 (V93A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479550	NM_139162.4(MIEF2):c.292C>T (p.Pro98Ser)	MIEF2 (P98S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285743	NM_139162.4(MIEF2):c.296C>T (p.Ser99Leu)	MIEF2 (S110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647550	NM_139162.4(MIEF2):c.310+188G>A	MIEF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2647551	NM_139162.4(MIEF2):c.365C>T (p.Pro122Leu)	MIEF2 (P122L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3126427	NM_139162.4(MIEF2):c.415G>A (p.Val139Met)	MIEF2 (V139M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227154	NM_139162.4(MIEF2):c.428C>G (p.Ala143Gly)	MIEF2 (A154G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257422	NM_139162.4(MIEF2):c.475G>A (p.Glu159Lys)	MIEF2 (G134E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126428	NM_139162.4(MIEF2):c.493C>T (p.Arg165Trp)	MIEF2 (R176W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386481	NM_139162.4(MIEF2):c.494G>A (p.Arg165Gln)	MIEF2 (R165Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2376920	NM_139162.4(MIEF2):c.520G>A (p.Gly174Arg)	MIEF2 (G174R +2 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2307638	NM_139162.4(MIEF2):c.529G>A (p.Val177Met)	MIEF2 (R152H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591030	NM_139162.4(MIEF2):c.550G>A (p.Asp184Asn)	MIEF2 (D195N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591876	NM_139162.4(MIEF2):c.553G>A (p.Gly185Arg)	MIEF2 (G196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294846	NM_139162.4(MIEF2):c.556C>T (p.Leu186=)	MIEF2 (A161V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2517375	NM_139162.4(MIEF2):c.564G>A (p.Ala188=)	MIEF2 (G164R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294847	NM_139162.4(MIEF2):c.570T>A (p.Ala190=)	MIEF2 (C166S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294844	NM_139162.4(MIEF2):c.577C>T (p.His193Tyr)	MIEF2 (H204Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257958	NM_139162.4(MIEF2):c.595C>T (p.Pro199Ser)	MIEF2 (P210S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520405	NM_139162.4(MIEF2):c.632C>T (p.Pro211Leu)	MIEF2 (P211L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3126430	NM_139162.4(MIEF2):c.636C>T (p.Gly212=)	MIEF2 (R188C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126431	NM_139162.4(MIEF2):c.637G>A (p.Val213Met)	MIEF2 (R188H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498697	NM_139162.4(MIEF2):c.687G>A (p.Gln229=)	MIEF2 (A205T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign

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