6301[geneid] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3057588	NM_006513.4(SARS1):c.48A>G (p.Pro16=)	LOC129931093, SARS1	Single nucleotide variant (synonymous variant +1 more)	SARS1-related disorder	GLikely benign
Select item 3157852	NM_006513.4(SARS1):c.91G>A (p.Gly31Arg)	LOC129931093, SARS1 (G31R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157843	NM_006513.4(SARS1):c.104A>G (p.Gln35Arg)	LOC129931093, SARS1 (Q35R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1690455	NM_006513.4(SARS1):c.126G>A (p.Glu42=)	LOC129931093, SARS1	Single nucleotide variant (synonymous variant +1 more)	See cases	GUncertain significance
Select item 2555194	NM_006513.4(SARS1):c.242C>T (p.Pro81Leu)	SARS1 (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157847	NM_006513.4(SARS1):c.280G>A (p.Ala94Thr)	SARS1 (A94T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1327978	NM_006513.4(SARS1):c.288+9T>C	SARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures +1 more	GBenign
Select item 3157848	NM_006513.4(SARS1):c.338C>G (p.Ala113Gly)	SARS1 (A113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157849	NM_006513.4(SARS1):c.355G>A (p.Ala119Thr)	SARS1 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061594	NM_006513.4(SARS1):c.362G>A (p.Arg121Gln)	SARS1 (R121Q)	Single nucleotide variant (missense variant)	SARS1-related disorder	GUncertain significance
Select item 767683	NM_006513.4(SARS1):c.447G>A (p.Glu149=)	SARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157850	NM_006513.4(SARS1):c.485G>A (p.Cys162Tyr)	SARS1 (C162Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 440921	NM_006513.4(SARS1):c.514G>A (p.Asp172Asn)	SARS1 (D172N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	Gno classifications from unflagged records
Select item 3316164	NM_006513.4(SARS1):c.547G>A (p.Glu183Lys)	SARS1 (E183K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1209576	NM_006513.4(SARS1):c.638G>T (p.Arg213Leu)	SARS1 (R213L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	Gno classifications from unflagged records
Select item 3157851	NM_006513.4(SARS1):c.856C>T (p.Arg286Trp)	SARS1 (R286W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714605	NM_006513.4(SARS1):c.891G>T (p.Leu297=)	SARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499499	NM_006513.4(SARS1):c.904C>T (p.Arg302Cys)	SARS1 (R302C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	Gno classifications from unflagged records
Select item 638324	NM_006513.4(SARS1):c.950G>A (p.Arg317Gln)	SARS1 (R317Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	GUncertain significance
Select item 3342118	NM_006513.4(SARS1):c.956A>G (p.His319Arg)	SARS1 (H319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443972	NM_006513.4(SARS1):c.969+1_969+3del	SARS1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1327979	NM_006513.4(SARS1):c.970-22T>C	SARS1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures +1 more	GBenign
Select item 545102	NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)	SARS1 (I324T)	Single nucleotide variant (missense variant)	Cerebral arteriovenous malformation	GPathogenic
Select item 721604	NM_006513.4(SARS1):c.1041C>T (p.Thr347=)	SARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774395	NM_006513.4(SARS1):c.1160G>A (p.Gly387Glu)	SARS1 (G387E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2499500	NM_006513.4(SARS1):c.1168C>T (p.Arg390Cys)	SARS1 (R390C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	Gno classifications from unflagged records
Select item 3316163	NM_006513.4(SARS1):c.1189A>T (p.Asn397Tyr)	SARS1 (N397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506443	NM_006513.4(SARS1):c.1196C>T (p.Thr399Met)	SARS1 (T399M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031372	NM_006513.4(SARS1):c.1210C>T (p.Arg404Cys)	SARS1 (R404C)	Single nucleotide variant (missense variant)	SARS1-related disorder	GUncertain significance
Select item 732354	NM_006513.4(SARS1):c.1257+7G>A	SARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3157844	NM_006513.4(SARS1):c.1301C>G (p.Thr434Ser)	LOC126805821, SARS1 (T434S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157845	NM_006513.4(SARS1):c.1315G>A (p.Ala439Thr)	LOC126805821, SARS1 (A439T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732908	NM_006513.4(SARS1):c.1326G>A (p.Glu442=)	LOC126805821, SARS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711285	NM_006513.4(SARS1):c.1387+8T>C	SARS1, LOC126805821	Single nucleotide variant (intron variant)	Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome +1 more	GBenign/Likely benign
Select item 3157846	NM_006513.4(SARS1):c.1423C>T (p.Pro475Ser)	LOC126805821, SARS1 (P475S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588063	NM_006513.4(SARS1):c.1456A>C (p.Lys486Gln)	LOC126805821, SARS1 (K486Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722047	NM_006513.4(SARS1):c.1467G>A (p.Glu489=)	LOC126805821, SARS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685815	GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3	CLCC1, ELAPOR1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1010549	NC_000001.10:g.(?_109428145)_(109816671_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 814117	GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1	GPSM2, CFAP276 +8 more	Copy number loss	not provided	GUncertain significance
Select item 687687	GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3	CELSR2, CFAP276 +7 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 585239	GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3	ELAPOR1, GPSM2 +6 more	Copy number gain	not provided	Gnot provided
Select item 565138	GRCh37/hg19 1p13.3(chr1:109680019-109762816)x1	SARS1, ELAPOR1	Copy number loss	not provided	GUncertain significance
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 69