ClinVar for Gene (Select 161725) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242303	GRCh37/hg19 15q13.2-13.3(chr15:30935396-32444881)x3	CHRNA7, FAN1 +5 more	Copy number gain	not provided	GPathogenic
Select item 3233312	NM_001382637.1(OTUD7A):c.1146del (p.Glu382fs)	OTUD7A (E375fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia and seizures	GPathogenic
Select item 3207421	NM_001382637.1(OTUD7A):c.317A>G (p.Asp106Gly)	OTUD7A (D106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207420	NM_001382637.1(OTUD7A):c.2548G>A (p.Ala850Thr)	OTUD7A (A843T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207419	NM_001382637.1(OTUD7A):c.245G>A (p.Arg82Gln)	OTUD7A (R82Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207418	NM_001382637.1(OTUD7A):c.2315C>T (p.Ala772Val)	OTUD7A (A765V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207417	NM_001382637.1(OTUD7A):c.2267C>T (p.Ala756Val)	OTUD7A (A749V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207416	NM_001382637.1(OTUD7A):c.2257G>T (p.Gly753Trp)	OTUD7A (G753W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207415	NM_001382637.1(OTUD7A):c.2169G>C (p.Gln723His)	OTUD7A (Q716H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207414	NM_001382637.1(OTUD7A):c.2135T>C (p.Val712Ala)	OTUD7A (V705A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207413	NM_001382637.1(OTUD7A):c.2128G>C (p.Val710Leu)	OTUD7A (V703L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207412	NM_001382637.1(OTUD7A):c.2086G>A (p.Ala696Thr)	OTUD7A (A689T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207411	NM_001382637.1(OTUD7A):c.2032C>A (p.Gln678Lys)	OTUD7A (Q671K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207410	NM_001382637.1(OTUD7A):c.200G>A (p.Arg67His)	OTUD7A (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207409	NM_001382637.1(OTUD7A):c.2029G>A (p.Glu677Lys)	OTUD7A (E670K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207408	NM_001382637.1(OTUD7A):c.2000G>A (p.Ser667Asn)	OTUD7A (S667N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207406	NM_001382637.1(OTUD7A):c.1737G>C (p.Lys579Asn)	OTUD7A (K579N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207405	NM_001382637.1(OTUD7A):c.1712A>C (p.Lys571Thr)	OTUD7A (K564T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207404	NM_001382637.1(OTUD7A):c.1711A>G (p.Lys571Glu)	OTUD7A (K571E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207403	NM_001382637.1(OTUD7A):c.1479C>G (p.Asn493Lys)	OTUD7A (N493K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207402	NM_001382637.1(OTUD7A):c.1432G>A (p.Ala478Thr)	OTUD7A (A471T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207401	NM_001382637.1(OTUD7A):c.1367C>T (p.Thr456Ile)	OTUD7A (T449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207400	NM_001382637.1(OTUD7A):c.1235G>A (p.Gly412Asp)	OTUD7A (G405D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207399	NM_001382637.1(OTUD7A):c.103G>A (p.Val35Ile)	OTUD7A (V35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148920	GRCh37/hg19 15q13.3-14(chr15:31677578-34254499)x3	ARHGAP11A, AVEN +7 more	Copy number gain	not provided	GUncertain significance
Select item 3063391	GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1	APBA2, ARHGAP11B +37 more	Copy number loss	not specified	GPathogenic
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063358	GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1	ARHGAP11A, ARHGAP11B +9 more	Copy number loss	not specified	GPathogenic
Select item 3063348	GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3	APBA2, ARHGAP11B +42 more	Copy number gain	not specified	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 3056918	NM_001382637.1(OTUD7A):c.1830G>A (p.Lys610=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GBenign
Select item 3048589	NM_001382637.1(OTUD7A):c.331+6G>A	OTUD7A	Single nucleotide variant (intron variant)	OTUD7A-related disorder	GLikely benign
Select item 3048302	NM_001382637.1(OTUD7A):c.2068GCC[8] (p.Ala696_Thr697insAla)	OTUD7A	Microsatellite (inframe insertion)	OTUD7A-related disorder	GLikely benign
Select item 3047891	NM_001382637.1(OTUD7A):c.1578C>T (p.Ser526=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GLikely benign
Select item 3042756	NM_001382637.1(OTUD7A):c.2046C>T (p.Asp682=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GLikely benign
Select item 3042471	NM_001382637.1(OTUD7A):c.2067T>C (p.Ala689=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GLikely benign
Select item 3041773	NM_001382637.1(OTUD7A):c.339G>A (p.Arg113=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GBenign
Select item 3038244	NM_001382637.1(OTUD7A):c.1998G>A (p.Thr666=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GLikely benign
Select item 3035296	NM_001382637.1(OTUD7A):c.2064C>T (p.Ala688=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GLikely benign
Select item 3033632	NM_001382637.1(OTUD7A):c.2496G>A (p.Ser832=)	OTUD7A	Single nucleotide variant (synonymous variant)	OTUD7A-related disorder	GBenign
Select item 3025916	NM_001382637.1(OTUD7A):c.2577C>G (p.Thr859=)	OTUD7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024590	GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 3024589	GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2692529	NM_001382637.1(OTUD7A):c.893+1del	OTUD7A	Deletion (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2690935	GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3	ARHGAP11A, ARHGAP11B +11 more	Copy number gain	See cases	GUncertain significance
Select item 2685505	GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1	CHRNA7, FAN1 +5 more	Copy number loss	not provided	GPathogenic
Select item 2684752	GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3	ARHGAP11B, CHRNA7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684749	GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3	APBA2, ARHGAP11A +45 more	Copy number gain	not provided	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2671594	Single allele	APBA2, ARHGAP11B +42 more	Duplication	not provided	GPathogenic
Select item 2664633	NM_001382637.1(OTUD7A):c.553C>T (p.Arg185Cys)	OTUD7A (R185C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645114	NM_001382637.1(OTUD7A):c.151+5334G>A	OTUD7A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2645113	NM_001382637.1(OTUD7A):c.2235G>T (p.Ala745=)	OTUD7A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2645112	NM_001382637.1(OTUD7A):c.2454G>C (p.Pro818=)	OTUD7A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633607	NM_001382637.1(OTUD7A):c.2024_2042del (p.Glu675fs)	OTUD7A (E668fs +1 more)	Deletion (frameshift variant)	OTUD7A-related disorder	GUncertain significance
Select item 2633351	NM_001382637.1(OTUD7A):c.2352_2365dup (p.Glu789fs)	OTUD7A (E782fs +1 more)	Duplication (frameshift variant)	OTUD7A-related disorder	GUncertain significance
Select item 2631427	NM_001382637.1(OTUD7A):c.2044_2070delinsT (p.Asp682fs)	OTUD7A (D675fs +1 more)	Indel (frameshift variant)	OTUD7A-related disorder	GUncertain significance
Select item 2628969	NM_001382637.1(OTUD7A):c.1243T>G (p.Trp415Gly)	OTUD7A (W408G +1 more)	Single nucleotide variant (missense variant)	OTUD7A-related disorder	GUncertain significance
Select item 2627559	GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3	MIR211, MTMR10 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2616929	NM_001382637.1(OTUD7A):c.1898G>A (p.Arg633His)	OTUD7A (R626H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592356	NM_001382637.1(OTUD7A):c.889G>C (p.Gly297Arg)	OTUD7A (G297R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582942	GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	not provided	GPathogenic
Select item 2580334	GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1	ARHGAP11B, CHRNA7 +9 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580323	GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580311	GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	See cases	GPathogenic
Select item 2580303	GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1	MIR211, ARHGAP11B +6 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2580300	GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2578541	NM_001382637.1(OTUD7A):c.755G>A (p.Trp252Ter)	OTUD7A (W252*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2574687	GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)	CHRNA7, FAN1 +5 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2556966	NM_001382637.1(OTUD7A):c.2674C>T (p.Pro892Ser)	OTUD7A (P892S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535468	NM_001382637.1(OTUD7A):c.2668C>G (p.Pro890Ala)	OTUD7A (P883A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524456	NM_001382637.1(OTUD7A):c.2287G>A (p.Gly763Arg)	OTUD7A (G756R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515011	NM_001382637.1(OTUD7A):c.2584T>C (p.Phe862Leu)	OTUD7A (F855L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511368	NM_001382637.1(OTUD7A):c.2539A>G (p.Thr847Ala)	OTUD7A (T847A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2499650	GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	CHRNA7, FAN1 +21 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2491849	NM_001382637.1(OTUD7A):c.2042G>C (p.Arg681Pro)	OTUD7A (R674P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489733	NM_001382637.1(OTUD7A):c.2200C>T (p.Pro734Ser)	OTUD7A (P727S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485339	NM_001382637.1(OTUD7A):c.1744T>G (p.Ser582Ala)	OTUD7A (S575A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470585	NM_001382637.1(OTUD7A):c.2201C>G (p.Pro734Arg)	OTUD7A (P734R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460835	NM_001382637.1(OTUD7A):c.107G>A (p.Arg36Gln)	OTUD7A (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446467	GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1	ARHGAP11B, CHRNA7 +7 more	Copy number loss	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 2425861	NC_000015.9:g.(?_31196867)_(34112028_?)dup	ARHGAP11A, CHRNA7 +11 more	Duplication	Familial colorectal cancer	GUncertain significance
Select item 2423388	NC_000015.9:g.(?_30906349)_(32446187_?)del	ARHGAP11B, CHRNA7 +7 more	Deletion	not provided	GPathogenic
Select item 2390150	NM_001382637.1(OTUD7A):c.506G>A (p.Arg169Gln)	OTUD7A (R169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379622	NM_001382637.1(OTUD7A):c.2347G>A (p.Ala783Thr)	OTUD7A (A783T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357942	NM_001382637.1(OTUD7A):c.740A>G (p.Lys247Arg)	OTUD7A (K247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352375	NM_001382637.1(OTUD7A):c.2639G>C (p.Arg880Pro)	OTUD7A (R880P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346825	NM_001382637.1(OTUD7A):c.2308C>T (p.Pro770Ser)	OTUD7A (P763S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339572	NM_001382637.1(OTUD7A):c.1537G>A (p.Asp513Asn)	OTUD7A (D506N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337589	NM_001382637.1(OTUD7A):c.1524G>C (p.Gln508His)	OTUD7A (Q501H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316197	NM_001382637.1(OTUD7A):c.2140G>C (p.Glu714Gln)	OTUD7A (E707Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307528	NM_001382637.1(OTUD7A):c.481G>A (p.Glu161Lys)	OTUD7A (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304815	NM_001382637.1(OTUD7A):c.716C>T (p.Thr239Met)	OTUD7A (T239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277394	NM_001382637.1(OTUD7A):c.2317C>T (p.Pro773Ser)	OTUD7A (P773S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270864	NM_001382637.1(OTUD7A):c.2170C>G (p.Leu724Val)	OTUD7A (L717V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268543	NM_001382637.1(OTUD7A):c.1276C>T (p.Arg426Trp)	OTUD7A (R419W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255426	NM_001382637.1(OTUD7A):c.472G>A (p.Val158Met)	OTUD7A (V158M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2226266	NM_001382637.1(OTUD7A):c.815G>A (p.Arg272Gln)	OTUD7A (R265Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225219	NM_001382637.1(OTUD7A):c.1485T>G (p.Asn495Lys)	OTUD7A (N495K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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