ClinVar for Gene (Select 56970) - ClinVar

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

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237205	NM_001382309.1(ATXN7L3):c.317T>C (p.Leu106Pro)	ATXN7L3 (L106P +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3237204	NM_001382309.1(ATXN7L3):c.276C>G (p.Ser92Arg)	ATXN7L3 (S92R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3237203	NM_001382309.1(ATXN7L3):c.212T>C (p.Ile71Thr)	ATXN7L3 (I71T +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3237202	NM_001382309.1(ATXN7L3):c.334dup (p.Ser112fs)	ATXN7L3 (S112fs +1 more)	Duplication (frameshift variant)	See cases	GUncertain significance
Select item 3237201	NM_001382309.1(ATXN7L3):c.340C>T (p.Arg114Ter)	ATXN7L3 (R114* +1 more)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 3132323	NM_001382309.1(ATXN7L3):c.727G>A (p.Gly243Arg)	ATXN7L3 (G262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132322	NM_001382309.1(ATXN7L3):c.45A>T (p.Lys15Asn)	ATXN7L3, LOC112533641 (K15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601831	NM_001382309.1(ATXN7L3):c.967G>A (p.Gly323Ser)	ATXN7L3 (G323S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589927	NM_001382309.1(ATXN7L3):c.1016C>T (p.Thr339Met)	ATXN7L3 (T339M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559224	NM_001382309.1(ATXN7L3):c.53C>G (p.Ala18Gly)	ATXN7L3 (A25G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508474	NM_001382309.1(ATXN7L3):c.947G>A (p.Ser316Asn)	ATXN7L3 (S323N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481846	NM_001382309.1(ATXN7L3):c.981C>G (p.Asn327Lys)	ATXN7L3 (N334K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398649	NM_001382309.1(ATXN7L3):c.350A>G (p.Asn117Ser)	ATXN7L3 (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379561	NM_001382309.1(ATXN7L3):c.593C>T (p.Pro198Leu)	ATXN7L3 (P205L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327764	NM_001382309.1(ATXN7L3):c.565A>G (p.Thr189Ala)	ATXN7L3 (T208A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320247	NM_001382309.1(ATXN7L3):c.812G>A (p.Arg271Gln)	ATXN7L3 (R271Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309526	NM_001382309.1(ATXN7L3):c.455C>T (p.Ala152Val)	ATXN7L3 (A152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340600	GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3	ASB16, ATXN7L3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 787136	NM_020218.1(ATXN7L3):c.759-3C>T	ATXN7L3	Single nucleotide variant	not provided	GBenign
Select item 768891	NM_020218.1(ATXN7L3):c.639C>T (p.Thr213=)	ATXN7L3	Single nucleotide variant	not provided	GBenign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28