GOPC[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 59527	GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3	DCBLD1, GOPC +24 more	Copy number gain	See cases	GUncertain significance
Select item 2340448	NM_020399.4(GOPC):c.1370A>G (p.Tyr457Cys)	DCBLD1, GOPC (Y449C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351612	NM_020399.4(GOPC):c.1358T>C (p.Leu453Pro)	DCBLD1, GOPC (L445P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281976	NM_020399.4(GOPC):c.1336G>A (p.Gly446Ser)	DCBLD1, GOPC (G438S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3100983	NM_020399.4(GOPC):c.1315A>C (p.Ser439Arg)	DCBLD1, GOPC (S431R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271899	NM_020399.4(GOPC):c.1265A>G (p.Asn422Ser)	DCBLD1, GOPC (N414S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100982	NM_020399.4(GOPC):c.1237G>C (p.Gly413Arg)	DCBLD1, GOPC (G405R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281978	NM_020399.4(GOPC):c.1175G>A (p.Arg392His)	DCBLD1, GOPC (R384H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281977	NM_020399.4(GOPC):c.1174C>T (p.Arg392Cys)	DCBLD1, GOPC (R384C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100981	NM_020399.4(GOPC):c.1159A>C (p.Ser387Arg)	DCBLD1, GOPC (S379R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2656875	NM_020399.4(GOPC):c.1134T>C (p.Asp378=)	DCBLD1, GOPC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3281979	NM_020399.4(GOPC):c.1048A>G (p.Lys350Glu)	DCBLD1, GOPC (K342E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223293	NM_020399.4(GOPC):c.955C>T (p.His319Tyr)	DCBLD1, GOPC (H311Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2272896	NM_020399.4(GOPC):c.937A>G (p.Ile313Val)	DCBLD1, GOPC (I305V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3100987	NM_020399.4(GOPC):c.907A>G (p.Ile303Val)	GOPC (I295V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602263	NM_020399.4(GOPC):c.761G>A (p.Arg254Gln)	GOPC (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281980	NM_020399.4(GOPC):c.677G>A (p.Arg226Gln)	GOPC (R226Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100985	NM_020399.4(GOPC):c.482A>G (p.Glu161Gly)	GOPC (E153G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656876	NM_020399.4(GOPC):c.441G>A (p.Lys147=)	GOPC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2460065	NM_020399.4(GOPC):c.374A>G (p.Gln125Arg)	GOPC (Q125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325163	NM_020399.4(GOPC):c.215G>T (p.Ser72Ile)	GOPC (S72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487244	NM_020399.4(GOPC):c.182A>G (p.Asp61Gly)	GOPC (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527795	NM_020399.4(GOPC):c.162G>C (p.Glu54Asp)	GOPC (E54D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656877	NM_020399.4(GOPC):c.158G>A (p.Gly53Glu)	GOPC (G53E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617223	NM_020399.4(GOPC):c.115A>G (p.Lys39Glu)	GOPC (K39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334292	NM_020399.4(GOPC):c.68G>A (p.Gly23Glu)	GOPC (G23E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621171	NM_020399.4(GOPC):c.55T>C (p.Ser19Pro)	GOPC (S19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100984	NM_020399.4(GOPC):c.46G>C (p.Gly16Arg)	GOPC (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100986	NM_020399.4(GOPC):c.8C>T (p.Ala3Val)	GOPC (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225515	NM_020399.4(GOPC):c.7G>A (p.Ala3Thr)	GOPC (A3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2427243	NC_000006.11:g.(?_117786180)_(117997268_?)dup	DCBLD1, GOPC +1 more	Duplication	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1527278	GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	DCBLD1, DSE +26 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 980222	GRCh37/hg19 6q22.1(chr6:117190128-117881578)x3	GOPC, VGLL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +1 more	GPathogenic
Select item 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685998	GRCh37/hg19 6q22.1-22.31(chr6:117746455-118649226)x1	DCBLD1, GOPC +3 more	Copy number loss	not provided	GUncertain significance
Select item 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic
Select item 180223	NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del	ASF1A, CEP85L +7 more	Deletion	Generalized non-motor (absence) seizure +2 more	GPathogenic

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Items: 60