ATXN2L[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2282543	NM_007245.4(ATXN2L):c.362C>G (p.Ser121Cys)	ATXN2L (S121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775041	NM_007245.4(ATXN2L):c.393+8G>A	ATXN2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3132251	NM_007245.4(ATXN2L):c.484G>A (p.Ala162Thr)	ATXN2L (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132252	NM_007245.4(ATXN2L):c.493C>T (p.Arg165Trp)	ATXN2L (R165W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132253	NM_007245.4(ATXN2L):c.523C>T (p.Arg175Cys)	ATXN2L (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540781	NM_007245.4(ATXN2L):c.620A>G (p.Lys207Arg)	ATXN2L (K207R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132254	NM_007245.4(ATXN2L):c.645G>A (p.Met215Ile)	ATXN2L (M215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546612	NM_007245.4(ATXN2L):c.688C>T (p.Arg230Cys)	ATXN2L (R230C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256214	NM_007245.4(ATXN2L):c.689G>T (p.Arg230Leu)	ATXN2L (R230L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132255	NM_007245.4(ATXN2L):c.877G>C (p.Glu293Gln)	ATXN2L (E237D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255343	NM_007245.4(ATXN2L):c.929G>A (p.Arg310His)	ATXN2L (R310H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333834	NM_007245.4(ATXN2L):c.937A>G (p.Ile313Val)	ATXN2L (I313V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 689662	NM_007245.4(ATXN2L):c.944T>C (p.Met315Thr)	ATXN2L (M315T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2325778	NM_007245.4(ATXN2L):c.986C>T (p.Ala329Val)	ATXN2L (A329V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519344	NM_007245.4(ATXN2L):c.1010G>A (p.Arg337Gln)	ATXN2L (G282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132236	NM_007245.4(ATXN2L):c.1064G>A (p.Arg355Gln)	ATXN2L (E300K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132237	NM_007245.4(ATXN2L):c.1114G>A (p.Gly372Ser)	ATXN2L (G372S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132238	NM_007245.4(ATXN2L):c.1151C>T (p.Pro384Leu)	ATXN2L (L329F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333148	NM_007245.4(ATXN2L):c.1271C>T (p.Ser424Leu)	ATXN2L (S361L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486125	NM_007245.4(ATXN2L):c.1288T>C (p.Ser430Pro)	ATXN2L (S430P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559222	NM_007245.4(ATXN2L):c.1298C>T (p.Thr433Ile)	ATXN2L (T370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132239	NM_007245.4(ATXN2L):c.1402G>A (p.Gly468Ser)	ATXN2L (G474S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214145	NM_007245.4(ATXN2L):c.1414C>T (p.Pro472Ser)	ATXN2L (P409S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132240	NM_007245.4(ATXN2L):c.1430C>G (p.Ser477Cys)	ATXN2L (S454C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537355	NM_007245.4(ATXN2L):c.1445C>T (p.Ser482Leu)	ATXN2L (S488L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132241	NM_007245.4(ATXN2L):c.1484C>G (p.Ala495Gly)	ATXN2L (A432G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620995	NM_007245.4(ATXN2L):c.1529C>G (p.Ser510Cys)	ATXN2L (S447C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132242	NM_007245.4(ATXN2L):c.1541C>G (p.Pro514Arg)	ATXN2L (P514R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342030	NM_007245.4(ATXN2L):c.1660-15G>A	ATXN2L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2462637	NM_007245.4(ATXN2L):c.1826A>G (p.Lys609Arg)	ATXN2L (K585R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603092	NM_007245.4(ATXN2L):c.1907C>T (p.Pro636Leu)	ATXN2L (P573L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132243	NM_007245.4(ATXN2L):c.1956A>G (p.Glu652=)	ATXN2L	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3132244	NM_007245.4(ATXN2L):c.1984A>C (p.Asn662His)	ATXN2L (N639H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646354	NM_007245.4(ATXN2L):c.1986T>C (p.Asn662=)	ATXN2L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2540460	NM_007245.4(ATXN2L):c.2151C>G (p.Ile717Met)	ATXN2L (I717M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132246	NM_007245.4(ATXN2L):c.2159G>C (p.Gly720Ala)	ATXN2L (G657A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240864	NM_007245.4(ATXN2L):c.2161C>T (p.Pro721Ser)	ATXN2L (P697S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714697	NM_007245.4(ATXN2L):c.2412C>T (p.Pro804=)	ATXN2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3132248	NM_007245.4(ATXN2L):c.2449A>T (p.Met817Leu)	ATXN2L (M793L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473923	NM_007245.4(ATXN2L):c.2602C>T (p.Leu868Phe)	ATXN2L (L868F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383851	NM_007245.4(ATXN2L):c.2693C>T (p.Ala898Val)	ATXN2L (A835V +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132249	NM_007245.4(ATXN2L):c.2810G>A (p.Ser937Asn)	ATXN2L (S913N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214517	NM_007245.4(ATXN2L):c.2866G>A (p.Gly956Ser)	ATXN2L (G938S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455097	NM_007245.4(ATXN2L):c.3010G>A (p.Ala1004Thr)	ATXN2L (A1010T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132250	NM_007245.4(ATXN2L):c.3119G>A (p.Gly1040Glu)	ATXN2L (G1016E +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372008	NM_007245.4(ATXN2L):c.3133A>G (p.Arg1045Gly)	ATXN2L (R1051G +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46