ATXN7L2[gene] - ClinVar

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Items: 39

	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 +332 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	LOC129931064, LOC129931065 +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 2552334	NM_001350175.2(ATXN7L2):c.25G>A (p.Ala9Thr)	ATXN7L2 (A9T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457880	NM_001350175.2(ATXN7L2):c.90C>G (p.Ser30Arg)	ATXN7L2 (S30R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368678	NM_001350175.2(ATXN7L2):c.100G>A (p.Glu34Lys)	ATXN7L2 (E34K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362006	NM_001350175.2(ATXN7L2):c.325C>G (p.Leu109Val)	ATXN7L2 (L109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373300	NM_001350175.2(ATXN7L2):c.701C>T (p.Pro234Leu)	ATXN7L2 (P176L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314951	NM_001350175.2(ATXN7L2):c.812T>G (p.Leu271Arg)	ATXN7L2 (L239R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246617	NM_001350175.2(ATXN7L2):c.964C>T (p.Arg322Cys)	ATXN7L2 (R264C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588574	NM_001350175.2(ATXN7L2):c.1064C>T (p.Ala355Val)	ATXN7L2 (A323V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513175	NM_001350175.2(ATXN7L2):c.1222C>T (p.Arg408Trp)	ATXN7L2 (R350W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262242	NM_001350175.2(ATXN7L2):c.1285C>G (p.Pro429Ala)	ATXN7L2 (P371A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347070	NM_001350175.2(ATXN7L2):c.1301A>G (p.His434Arg)	ATXN7L2 (H402R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387439	NM_001350175.2(ATXN7L2):c.1388G>A (p.Arg463Gln)	ATXN7L2 (R405Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344980	NM_001350175.2(ATXN7L2):c.1502C>G (p.Pro501Arg)	ATXN7L2 (P443R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461815	NM_001350175.2(ATXN7L2):c.1504T>A (p.Leu502Ile)	ATXN7L2 (L444I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204226	NM_001350175.2(ATXN7L2):c.1631G>C (p.Gly544Ala)	ATXN7L2 (G486A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310913	NM_001350175.2(ATXN7L2):c.1669T>C (p.Cys557Arg)	ATXN7L2 (C525R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604642	NM_001350175.2(ATXN7L2):c.1814A>G (p.Lys605Arg)	ATXN7L2 (K547R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598761	NM_001350175.2(ATXN7L2):c.2075C>T (p.Thr692Ile)	ATXN7L2 (T692I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287907	NM_001350175.2(ATXN7L2):c.2167G>A (p.Ala723Thr)	ATXN7L2 (A691T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588152	NM_001350175.2(ATXN7L2):c.2194C>T (p.Arg732Cys)	ATXN7L2 (R732C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2685566	GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1	AMIGO1, ATXN7L2 +7 more	Copy number loss	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 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 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 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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 39