ClinVar for Gene (Select 55763) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276754	NM_001024924.2(EXOC1):c.2339A>G (p.His780Arg)	EXOC1 (H780R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276753	NM_001024924.2(EXOC1):c.947A>G (p.Asn316Ser)	EXOC1 (N316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276752	NM_001024924.2(EXOC1):c.1693A>G (p.Asn565Asp)	EXOC1 (N550D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276751	NM_001024924.2(EXOC1):c.2015T>G (p.Leu672Arg)	EXOC1 (L657R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276750	NM_001024924.2(EXOC1):c.2131G>T (p.Val711Phe)	EXOC1 (V696F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276749	NM_001024924.2(EXOC1):c.514G>A (p.Glu172Lys)	EXOC1 (E172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276748	NM_001024924.2(EXOC1):c.1034G>A (p.Arg345Gln)	EXOC1 (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
Select item 3091024	NM_001024924.2(EXOC1):c.794A>G (p.Asn265Ser)	EXOC1 (N265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091023	NM_001024924.2(EXOC1):c.670G>T (p.Ala224Ser)	EXOC1 (A224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091022	NM_001024924.2(EXOC1):c.539A>G (p.Tyr180Cys)	EXOC1 (Y180C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3091020	NM_001024924.2(EXOC1):c.263C>T (p.Pro88Leu)	EXOC1 (P88L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091019	NM_001024924.2(EXOC1):c.2225G>A (p.Arg742Gln)	EXOC1 (R727Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091018	NM_001024924.2(EXOC1):c.1733T>C (p.Met578Thr)	EXOC1 (M578T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091017	NM_001024924.2(EXOC1):c.1231A>G (p.Met411Val)	EXOC1 (M411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091016	NM_001024924.2(EXOC1):c.1010G>T (p.Ser337Ile)	EXOC1 (S337I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685969	GRCh37/hg19 4q12(chr4:56169506-56780835)x3	CLOCK, EXOC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2550165	NM_001024924.2(EXOC1):c.835C>A (p.His279Asn)	EXOC1 (H279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543575	NM_001024924.2(EXOC1):c.167A>G (p.Lys56Arg)	EXOC1, LOC126807057 (K56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539105	NM_001024924.2(EXOC1):c.976C>T (p.Leu326Phe)	EXOC1 (L326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529739	NM_001024924.2(EXOC1):c.901A>G (p.Ile301Val)	EXOC1 (I301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524046	NM_001024924.2(EXOC1):c.554C>T (p.Ala185Val)	EXOC1 (A185V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522953	NM_001024924.2(EXOC1):c.2676G>C (p.Gln892His)	EXOC1 (Q892H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509396	NM_001024924.2(EXOC1):c.760G>A (p.Glu254Lys)	EXOC1 (E254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484176	NM_001024924.2(EXOC1):c.373A>G (p.Lys125Glu)	EXOC1 (K125E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468626	NM_001024924.2(EXOC1):c.392A>G (p.Asn131Ser)	EXOC1 (N131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468463	NM_001024924.2(EXOC1):c.1004G>A (p.Arg335Gln)	EXOC1 (R335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463604	NM_001024924.2(EXOC1):c.539A>T (p.Tyr180Phe)	EXOC1 (Y180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 2408078	NM_001024924.2(EXOC1):c.1731T>A (p.Asp577Glu)	EXOC1 (D562E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401652	NM_001024924.2(EXOC1):c.190T>A (p.Tyr64Asn)	EXOC1, LOC126807057 (Y64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380494	NM_001024924.2(EXOC1):c.1019G>A (p.Arg340Gln)	EXOC1 (R340Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375863	NM_001024924.2(EXOC1):c.1070A>C (p.Gln357Pro)	EXOC1 (Q357P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367943	NM_001024924.2(EXOC1):c.218G>A (p.Arg73Gln)	EXOC1, LOC126807057 (R73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355674	NM_001024924.2(EXOC1):c.370C>T (p.Arg124Trp)	EXOC1 (R124W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291759	NM_001024924.2(EXOC1):c.1270G>A (p.Asp424Asn)	EXOC1 (D424N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266233	NM_001024924.2(EXOC1):c.1343G>C (p.Arg448Pro)	EXOC1 (R448P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243391	NM_001024924.2(EXOC1):c.374A>G (p.Lys125Arg)	EXOC1 (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232976	NM_001024924.2(EXOC1):c.907G>T (p.Ala303Ser)	EXOC1 (A303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211572	NM_001024924.2(EXOC1):c.2599C>T (p.Arg867Cys)	EXOC1 (R867C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1340145	GRCh37/hg19 4q12(chr4:56531648-56784257)x1	EXOC1	Copy number loss	not provided	GLikely benign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 562915	GRCh37/hg19 4q12(chr4:56531730-56784257)x1	EXOC1	Copy number loss	not provided	GLikely benign
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 146177	GRCh38/hg38 4q12(chr4:55831692-56248102)x3	CEP135, CRACD +8 more	Copy number gain	See cases	GUncertain significance
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 61