ClinVar for Gene (Select 5753) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3149017	NM_005975.4(PTK6):c.999A>T (p.Leu333Phe)	PTK6 (L333F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149016	NM_005975.4(PTK6):c.985G>A (p.Gly329Arg)	PTK6 (G329R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149015	NM_005975.4(PTK6):c.774C>A (p.Asp258Glu)	PTK6 (D258E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149014	NM_005975.4(PTK6):c.560C>T (p.Pro187Leu)	PTK6 (P187L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149013	NM_005975.4(PTK6):c.544G>A (p.Asp182Asn)	PTK6 (D182N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3149012	NM_005975.4(PTK6):c.502G>A (p.Ala168Thr)	PTK6 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149011	NM_005975.4(PTK6):c.476G>C (p.Ser159Thr)	PTK6 (S159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149010	NM_005975.4(PTK6):c.368C>A (p.Ala123Asp)	PTK6 (A123D)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3149009	NM_005975.4(PTK6):c.316G>A (p.Val106Ile)	PTK6 (V106I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149008	NM_005975.4(PTK6):c.217G>A (p.Val73Met)	PTK6 (V73M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149007	NM_005975.4(PTK6):c.215C>T (p.Thr72Met)	PTK6 (T72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149005	NM_005975.4(PTK6):c.1094C>T (p.Ser365Phe)	PTK6 (S365F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2684907	GRCh37/hg19 20q13.33(chr20:61934224-62247173)x3	CHRNA4, COL20A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2672055	GRCh37/hg19 20q13.33(chr20:61704244-62169893)x3	ARFGAP1, BIRC7 +13 more	Copy number gain	See cases	GUncertain significance
Select item 2652544	NM_005975.4(PTK6):c.108C>T (p.His36=)	PTK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2569884	NM_005975.4(PTK6):c.494G>A (p.Arg165Gln)	PTK6 (R165Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2533400	NM_005975.4(PTK6):c.329C>A (p.Pro110Gln)	PTK6 (P110Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521259	NM_005975.4(PTK6):c.1105G>A (p.Asp369Asn)	PTK6 (D369N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2494131	NM_005975.4(PTK6):c.934G>A (p.Asp312Asn)	PTK6 (D312N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2493690	NM_005975.4(PTK6):c.1294C>A (p.Pro432Thr)	PTK6 (P432T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2488479	NM_005975.4(PTK6):c.29G>C (p.Gly10Ala)	PTK6 (G10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487018	NM_005975.4(PTK6):c.1084G>A (p.Gly362Ser)	PTK6 (G362S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467238	NM_005975.4(PTK6):c.1310T>C (p.Leu437Pro)	PTK6 (L437P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2427484	NC_000020.10:g.(?_61978090)_(62324656_?)del	SRMS, STMN3 +9 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2424110	NC_000020.10:g.(?_61978090)_(62324656_?)dup	CHRNA4, EEF1A2 +9 more	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2424102	NC_000020.10:g.(?_62075992)_(62324656_?)del	EEF1A2, FNDC11 +8 more	Deletion	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic
Select item 2380256	NM_005975.4(PTK6):c.124G>C (p.Glu42Gln)	PTK6 (E42Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361990	NM_005975.4(PTK6):c.727C>T (p.Arg243Trp)	PTK6 (R243W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2361420	NM_005975.4(PTK6):c.355C>T (p.Arg119Trp)	PTK6 (R119W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361106	NM_005975.4(PTK6):c.1010T>C (p.Ile337Thr)	PTK6 (I337T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2351900	NM_005975.4(PTK6):c.1204G>A (p.Ala402Thr)	PTK6 (A402T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332898	NM_005975.4(PTK6):c.575C>T (p.Thr192Met)	PTK6 (T192M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2307734	NM_005975.4(PTK6):c.10C>T (p.Arg4Trp)	PTK6 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303216	NM_005975.4(PTK6):c.1313G>A (p.Arg438Gln)	PTK6 (R438Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302333	NM_005975.4(PTK6):c.296C>T (p.Thr99Met)	PTK6 (T99M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290751	NM_005975.4(PTK6):c.853C>T (p.Pro285Ser)	PTK6 (P285S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2282591	NM_005975.4(PTK6):c.1099A>G (p.Lys367Glu)	PTK6 (K367E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2277624	NM_005975.4(PTK6):c.299G>T (p.Gly100Val)	PTK6 (G100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266470	NM_005975.4(PTK6):c.485A>T (p.His162Leu)	PTK6 (H162L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2263459	NM_005975.4(PTK6):c.1213C>T (p.Arg405Cys)	PTK6 (R405C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2262574	NM_005975.4(PTK6):c.1073C>T (p.Ala358Val)	PTK6 (A358V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2245576	NM_005975.4(PTK6):c.124G>A (p.Glu42Lys)	PTK6 (E42K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226195	NM_005975.4(PTK6):c.1349C>G (p.Pro450Arg)	PTK6 (P450R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2222960	NM_005975.4(PTK6):c.1312C>T (p.Arg438Trp)	PTK6 (R438W)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211841	NM_005975.4(PTK6):c.598G>A (p.Gly200Ser)	PTK6 (G200S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211116	NM_005975.4(PTK6):c.254G>A (p.Arg85His)	PTK6 (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207092	NM_005975.4(PTK6):c.511C>G (p.Arg171Gly)	PTK6 (P130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203917	NM_005975.4(PTK6):c.271C>T (p.Arg91Trp)	PTK6 (R91W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 1696472	Single allele	LOC130066361, LOC130066362 +102 more	Duplication	not provided	GUncertain significance
Select item 1526700	GRCh37/hg19 20q13.33(chr20:61797521-62318983)	ARFGAP1, BIRC7 +14 more	Copy number loss	not specified	GPathogenic
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1457920	NC_000020.10:g.(?_61987307)_(62329916_?)del	CHRNA4, EEF1A2 +10 more	Deletion	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1340573	GRCh37/hg19 20q13.33(chr20:61673691-62230974)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 1340351	GRCh37/hg19 20q13.33(chr20:62126002-62198431)x1	EEF1A2, FNDC11 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1326337	GRCh37/hg19 20q13.33(chr20:61986847-62224435)	CHRNA4, EEF1A2 +7 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	COL20A1, DNAJC5 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1073749	NC_000020.10:g.(?_62076002)_(62324646_?)del	EEF1A2, FNDC11 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	BHLHE23, BIRC7 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979743	GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	CHRNA4, STMN3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979742	GRCh37/hg19 20q13.33(chr20:61884113-62234685)x3	GMEB2, KCNQ2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 979741	GRCh37/hg19 20q13.33(chr20:62052925-62318983)x1	PTK6, FNDC11 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 833250	NC_000020.10:g.(?_61977556)_(62562941_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 830535	NC_000020.10:g.(?_61977556)_(62562941_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 816138	GRCh37/hg19 20q13.33(chr20:62090403-62319007)x1	EEF1A2, PPDPF +8 more	Copy number loss	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 788036	NM_005975.4(PTK6):c.373C>A (p.Arg125=)	PTK6 (A84E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687715	GRCh37/hg19 20q13.33(chr20:61678415-62247462)x3	ARFGAP1, BIRC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 642634	NC_000020.11:g.(?_63472148)_(63528152_?)del	PTK6, PPDPF +6 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 564629	GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1	COL20A1, NKAIN4 +14 more	Copy number loss	not provided	GPathogenic
Select item 564620	GRCh37/hg19 20q13.33(chr20:62141508-62405797)x3	ARFRP1, GMEB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 545123	NM_005975.4(PTK6):c.1066C>A (p.Pro356Thr)	PTK6 (P356T)	Single nucleotide variant (3 prime UTR variant +1 more)	Keratoconus	GUncertain significance
Select item 503592	GRCh37/hg19 20q13.33(chr20:61974480-62473704)x3	FNDC11, GMEB2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 461213	NC_000020.11:g.(?_63444639)_(63528152_?)del	EEF1A2, KCNQ2 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442909	GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	ARFGAP1, ARFRP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic

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