6272[geneid] - ClinVar

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Items: 66

	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 7081	NC_000001.11:g.109274968G>T	CELSR2, LOC110121285 +1 more	Single nucleotide variant (3 prime UTR variant)	Low density lipoprotein cholesterol level quantitative trait locus 6	Gassociation
Select item 2252278	NM_002959.7(SORT1):c.2441C>T (p.Ser814Phe)	SORT1 (S814F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051097	NM_002959.7(SORT1):c.2289C>T (p.Ile763=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 3321530	NM_002959.7(SORT1):c.2242G>C (p.Glu748Gln)	SORT1 (E611Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053467	NM_002959.7(SORT1):c.2241G>A (p.Pro747=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 3167629	NM_002959.7(SORT1):c.2240C>T (p.Pro747Leu)	SORT1 (P610L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786468	NM_002959.7(SORT1):c.2237G>A (p.Ser746Asn)	SORT1 (S746N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3167628	NM_002959.7(SORT1):c.1905T>G (p.Ile635Met)	SORT1 (I635M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321533	NM_002959.7(SORT1):c.1799A>T (p.Tyr600Phe)	SORT1 (Y600F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049772	NM_002959.7(SORT1):c.1682C>T (p.Thr561Met)	SORT1 (T424M +1 more)	Single nucleotide variant (missense variant)	SORT1-related disorder	GBenign
Select item 2341535	NM_002959.7(SORT1):c.1639A>C (p.Ile547Leu)	SORT1 (I410L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045046	NM_002959.7(SORT1):c.1620C>T (p.Ser540=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3167627	NM_002959.7(SORT1):c.1426A>G (p.Met476Val)	SORT1 (M339V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638979	NM_002959.7(SORT1):c.1340A>G (p.Glu447Gly)	SORT1 (E310G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3167626	NM_002959.7(SORT1):c.1315C>T (p.His439Tyr)	SORT1 (H302Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047969	NM_002959.7(SORT1):c.1227C>T (p.Ser409=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GLikely benign
Select item 2521045	NM_002959.7(SORT1):c.1145G>A (p.Arg382Gln)	SORT1 (R382Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321532	NM_002959.7(SORT1):c.1106G>T (p.Gly369Val)	SORT1 (G369V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789875	NM_002959.7(SORT1):c.1072G>T (p.Asp358Tyr)	SORT1 (D358Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2609960	NM_002959.7(SORT1):c.991A>G (p.Thr331Ala)	SORT1 (T331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059338	NM_002959.7(SORT1):c.969A>C (p.Thr323=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3167634	NM_002959.7(SORT1):c.932G>A (p.Arg311His)	SORT1 (R174H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638980	NM_002959.7(SORT1):c.904A>G (p.Lys302Glu)	SORT1 (K165E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3167633	NM_002959.7(SORT1):c.863G>A (p.Arg288Lys)	SORT1 (R288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206451	NM_002959.7(SORT1):c.853G>A (p.Glu285Lys)	SORT1 (E148K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276489	NM_002959.7(SORT1):c.808A>T (p.Thr270Ser)	SORT1 (T134S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276488	NM_002959.7(SORT1):c.807T>G (p.Phe269Leu)	SORT1 (F133L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520338	NM_002959.7(SORT1):c.740G>A (p.Gly247Glu)	SORT1 (G111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059274	NM_002959.7(SORT1):c.594T>C (p.Phe198=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
Select item 3040263	NM_002959.7(SORT1):c.544-5A>G	SORT1	Single nucleotide variant (intron variant)	SORT1-related disorder	GLikely benign
Select item 784954	NM_002959.7(SORT1):c.543+8T>A	SORT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3167631	NM_002959.7(SORT1):c.523G>T (p.Gly175Cys)	SORT1 (G175C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638981	NM_002959.7(SORT1):c.370A>G (p.Ile124Val)	SORT1 (I124V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 737274	NM_002959.7(SORT1):c.333A>G (p.Ser111=)	SORT1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2221896	NM_002959.7(SORT1):c.284A>G (p.Lys95Arg)	SORT1 (K95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603939	NM_002959.7(SORT1):c.271G>A (p.Asp91Asn)	SORT1 (D91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284281	NM_002959.7(SORT1):c.259G>C (p.Gly87Arg)	SORT1 (G87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321528	NM_002959.7(SORT1):c.179T>G (p.Leu60Arg)	LOC129931096, SORT1 (L60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321527	NM_002959.7(SORT1):c.170G>A (p.Ser57Asn)	LOC129931096, SORT1 (S57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167632	NM_002959.7(SORT1):c.83C>T (p.Pro28Leu)	LOC129931097, SORT1 (P28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321529	NM_002959.7(SORT1):c.49G>C (p.Gly17Arg)	LOC129931097, SORT1 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321526	NM_002959.7(SORT1):c.44C>T (p.Pro15Leu)	LOC129931097, SORT1 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496054	NM_002959.7(SORT1):c.28G>C (p.Gly10Arg)	LOC129931097, SORT1 (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056058	NM_002959.7(SORT1):c.12C>G (p.Pro4=)	SORT1	Single nucleotide variant (synonymous variant)	SORT1-related disorder	GBenign
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 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 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	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 687687	GRCh37/hg19 1p13.3(chr1:109612444-109857815)x3	CELSR2, CFAP276 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685222	GRCh37/hg19 1p13.3(chr1:109801239-109901996)x3	CELSR2, MYBPHL +2 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 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: 66