55770[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 58405	GRCh38/hg38 6p25.3-25.1(chr6:107682-4978781)x1	BPHL, C6orf201 +260 more	Copy number loss	See cases	GPathogenic
Select item 58125	GRCh38/hg38 6p25.3-25.1(chr6:144957-5239181)x3	LINC02521, LINC02525 +281 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146366	GRCh38/hg38 6p25.3(chr6:163083-1365190)x1	DUSP22, EXOC2 +97 more	Copy number loss	See cases	GUncertain significance
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 58408	GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1	DUSP22, EXOC2 +129 more	Copy number loss	See cases	GPathogenic
Select item 58407	GRCh38/hg38 6p25.3-25.1(chr6:163083-5875402)x1	LOC129389433, LOC129995519 +303 more	Copy number loss	See cases	GPathogenic
Select item 57077	GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1	LOC129995673, LOC129995674 +307 more	Copy number loss	See cases	GPathogenic
Select item 57019	GRCh38/hg38 6p25.3(chr6:163083-1951351)x3	DUSP22, EXOC2 +118 more	Copy number gain	See cases	GPathogenic
Select item 32601	GRCh38/hg38 6p25.3(chr6:163083-918985)x1	DUSP22, EXOC2 +87 more	Copy number loss	See cases	GUncertain significance
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
Select item 146740	GRCh38/hg38 6p25.3(chr6:265806-588274)x3	DUSP22, EXOC2 +56 more	Copy number gain	See cases	GBenign
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 2208239	NM_018303.6(EXOC2):c.2771C>T (p.Thr924Ile)	EXOC2 (T924I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656164	NM_018303.6(EXOC2):c.2727G>A (p.Leu909=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 144907	GRCh38/hg38 6p25.3(chr6:490850-700078)x3	EXOC2, HUS1B +7 more	Copy number gain	See cases	GBenign
Select item 3276757	NM_018303.6(EXOC2):c.2551G>A (p.Ala851Thr)	EXOC2 (A851T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091034	NM_018303.6(EXOC2):c.2471T>C (p.Val824Ala)	EXOC2 (V824A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656165	NM_018303.6(EXOC2):c.2448T>C (p.Ile816=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091033	NM_018303.6(EXOC2):c.2431G>A (p.Ala811Thr)	EXOC2 (A811T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789742	NM_018303.6(EXOC2):c.2409G>T (p.Leu803=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2263670	NM_018303.6(EXOC2):c.2338T>A (p.Tyr780Asn)	EXOC2 (Y780N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091032	NM_018303.6(EXOC2):c.2333G>A (p.Gly778Glu)	EXOC2 (G778E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385791	NM_018303.6(EXOC2):c.2236C>A (p.Gln746Lys)	EXOC2 (Q746K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372237	NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)	EXOC2 (F738L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2631923	NM_018303.6(EXOC2):c.2188G>A (p.Ala730Thr)	EXOC2 (A730T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329950	NM_018303.6(EXOC2):c.2176T>G (p.Phe726Val)	EXOC2 (F726V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462687	NM_018303.6(EXOC2):c.2173A>G (p.Thr725Ala)	EXOC2 (T725A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091030	NM_018303.6(EXOC2):c.2168G>A (p.Arg723His)	EXOC2 (R723H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318101	NM_018303.6(EXOC2):c.2167C>T (p.Arg723Cys)	EXOC2 (R723C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276760	NM_018303.6(EXOC2):c.2093G>A (p.Ser698Asn)	EXOC2 (S698N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091029	NM_018303.6(EXOC2):c.2042T>C (p.Ile681Thr)	EXOC2 (I681T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517448	NM_018303.6(EXOC2):c.2026A>G (p.Lys676Glu)	EXOC2 (K676E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236583	NM_018303.6(EXOC2):c.1990C>A (p.Gln664Lys)	EXOC2 (Q664K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272661	NM_018303.6(EXOC2):c.1989G>A (p.Met663Ile)	EXOC2 (M663I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091028	NM_018303.6(EXOC2):c.1882T>G (p.Ser628Ala)	EXOC2 (S628A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384293	NM_018303.6(EXOC2):c.1876G>A (p.Val626Met)	EXOC2 (V626M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298252	NM_018303.6(EXOC2):c.1832A>G (p.Asn611Ser)	EXOC2 (N611S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712583	NM_018303.6(EXOC2):c.1759G>A (p.Val587Ile)	EXOC2, LOC126859547 (V587I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2558755	NM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser)	EXOC2, LOC126859547 (C586S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460609	NM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys)	EXOC2, LOC126859547 (R585C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301238	NM_018303.6(EXOC2):c.1750G>A (p.Val584Ile)	EXOC2, LOC126859547 (V584I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294353	NM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu)	EXOC2, LOC126859547 (D581E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074298	NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)	EXOC2, LOC126859547 (L580S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 3091027	NM_018303.6(EXOC2):c.1726C>A (p.Gln576Lys)	EXOC2, LOC126859547 (Q576K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276759	NM_018303.6(EXOC2):c.1706A>G (p.Asn569Ser)	EXOC2, LOC126859547 (N569S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407378	NM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr)	EXOC2, LOC126859547 (A549T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656166	NM_018303.6(EXOC2):c.1632C>T (p.Ser544=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2367784	NM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys)	EXOC2, LOC126859547 (E542K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354158	NM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg)	EXOC2, LOC126859547 (G535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 727093	NM_018303.6(EXOC2):c.1554C>T (p.Arg518=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3276755	NM_018303.6(EXOC2):c.1553G>A (p.Arg518His)	EXOC2, LOC126859547 (R518H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602834	NM_018303.6(EXOC2):c.1532A>T (p.His511Leu)	EXOC2, LOC126859547 (H511L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3367146	NM_018303.6(EXOC2):c.1443+10C>T	EXOC2	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 2656167	NM_018303.6(EXOC2):c.1374C>T (p.Leu458=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2550603	NM_018303.6(EXOC2):c.1327T>C (p.Tyr443His)	EXOC2 (Y443H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382791	NM_018303.6(EXOC2):c.1319C>T (p.Thr440Met)	EXOC2 (T440M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074296	NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter)	EXOC2 (R437*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Gno classifications from unflagged records
Select item 2514084	NM_018303.6(EXOC2):c.1302G>T (p.Gln434His)	EXOC2 (Q434H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272417	NM_018303.6(EXOC2):c.1274C>T (p.Ala425Val)	EXOC2 (A425V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161714	NM_018303.6(EXOC2):c.1241G>A (p.Arg414His)	EXOC2 (R414H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2366081	NM_018303.6(EXOC2):c.1237A>G (p.Thr413Ala)	EXOC2 (T413A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479425	NM_018303.6(EXOC2):c.1222G>A (p.Asp408Asn)	EXOC2 (D408N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548852	NM_018303.6(EXOC2):c.1175A>G (p.Tyr392Cys)	EXOC2 (Y392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3367145	NM_018303.6(EXOC2):c.1049T>C (p.Leu350Ser)	EXOC2 (L350S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 2476456	NM_018303.6(EXOC2):c.1009G>A (p.Glu337Lys)	EXOC2 (E337K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776105	NM_018303.6(EXOC2):c.999A>G (p.Glu333=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2656168	NM_018303.6(EXOC2):c.942G>A (p.Gly314=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2531088	NM_018303.6(EXOC2):c.934C>G (p.Leu312Val)	EXOC2 (L312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276762	NM_018303.6(EXOC2):c.893A>G (p.Asp298Gly)	EXOC2 (D298G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454825	NM_018303.6(EXOC2):c.716C>T (p.Thr239Met)	EXOC2 (T239M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091037	NM_018303.6(EXOC2):c.700G>A (p.Val234Ile)	EXOC2 (V234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676001	NM_018303.6(EXOC2):c.639C>T (p.Phe213=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2243155	NM_018303.6(EXOC2):c.587A>G (p.Lys196Arg)	EXOC2 (K196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276761	NM_018303.6(EXOC2):c.533C>A (p.Thr178Asn)	EXOC2 (T178N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1676002	NM_018303.6(EXOC2):c.459C>T (p.Phe153=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3091036	NM_018303.6(EXOC2):c.434C>T (p.Ser145Leu)	EXOC2 (S145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091035	NM_018303.6(EXOC2):c.397A>C (p.Asn133His)	EXOC2 (N133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1074297	NM_018303.6(EXOC2):c.389G>A (p.Arg130His)	EXOC2 (R130H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	Gno classifications from unflagged records
Select item 3276758	NM_018303.6(EXOC2):c.152C>T (p.Thr51Met)	EXOC2 (T51M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656169	NM_018303.6(EXOC2):c.33C>T (p.Thr11=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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