GAS2L3[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 3098651	NM_174942.3(GAS2L3):c.53G>A (p.Arg18Gln)	GAS2L3 (R18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318880	NM_174942.3(GAS2L3):c.55A>G (p.Ser19Gly)	GAS2L3 (S19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721929	NM_174942.3(GAS2L3):c.60T>A (p.Pro20=)	GAS2L3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3098652	NM_174942.3(GAS2L3):c.76G>A (p.Gly26Arg)	GAS2L3 (G26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475007	NM_174942.3(GAS2L3):c.176C>G (p.Ser59Cys)	GAS2L3 (S59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098646	NM_174942.3(GAS2L3):c.193A>G (p.Lys65Glu)	GAS2L3 (K65E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098649	NM_174942.3(GAS2L3):c.230A>G (p.Asn77Ser)	GAS2L3 (N77S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098650	NM_174942.3(GAS2L3):c.413A>G (p.Asp138Gly)	GAS2L3 (D138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323461	NM_174942.3(GAS2L3):c.422A>T (p.Tyr141Phe)	GAS2L3 (Y141F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280804	NM_174942.3(GAS2L3):c.502G>A (p.Val168Met)	GAS2L3 (V168M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348709	NM_174942.3(GAS2L3):c.514G>A (p.Gly172Arg)	GAS2L3 (G172R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280801	NM_174942.3(GAS2L3):c.595G>A (p.Asp199Asn)	GAS2L3 (D199N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267676	NM_174942.3(GAS2L3):c.662C>G (p.Ala221Gly)	GAS2L3 (A117G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276787	NM_174942.3(GAS2L3):c.673C>G (p.Pro225Ala)	GAS2L3 (P121A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347277	NM_174942.3(GAS2L3):c.812A>G (p.Gln271Arg)	GAS2L3 (Q271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280802	NM_174942.3(GAS2L3):c.842G>A (p.Arg281Gln)	GAS2L3 (R281Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280803	NM_174942.3(GAS2L3):c.865G>C (p.Glu289Gln)	GAS2L3 (E185Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475392	NM_174942.3(GAS2L3):c.868C>G (p.Gln290Glu)	GAS2L3 (Q290E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280799	NM_174942.3(GAS2L3):c.922C>T (p.Pro308Ser)	GAS2L3 (P204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098639	NM_174942.3(GAS2L3):c.1042C>T (p.Arg348Cys)	GAS2L3 (R348C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098640	NM_174942.3(GAS2L3):c.1043G>A (p.Arg348His)	GAS2L3 (R244H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098641	NM_174942.3(GAS2L3):c.1049C>A (p.Pro350Gln)	GAS2L3 (P350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467499	NM_174942.3(GAS2L3):c.1120C>A (p.Pro374Thr)	GAS2L3 (P374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467766	NM_174942.3(GAS2L3):c.1167A>C (p.Lys389Asn)	GAS2L3 (K285N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770988	NM_174942.3(GAS2L3):c.1185G>A (p.Pro395=)	GAS2L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721930	NM_174942.3(GAS2L3):c.1228A>C (p.Asn410His)	GAS2L3 (N306H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2614860	NM_174942.3(GAS2L3):c.1234G>A (p.Val412Ile)	GAS2L3 (V308I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770989	NM_174942.3(GAS2L3):c.1256C>T (p.Pro419Leu)	GAS2L3 (P315L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3098642	NM_174942.3(GAS2L3):c.1295C>T (p.Pro432Leu)	GAS2L3 (P328L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379629	NM_174942.3(GAS2L3):c.1312T>A (p.Ser438Thr)	GAS2L3 (S334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277577	NM_174942.3(GAS2L3):c.1319A>G (p.Asn440Ser)	GAS2L3 (N336S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280800	NM_174942.3(GAS2L3):c.1433A>G (p.His478Arg)	GAS2L3 (H374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779268	NM_174942.3(GAS2L3):c.1478C>T (p.Ser493Leu)	GAS2L3 (S389L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3098643	NM_174942.3(GAS2L3):c.1618T>C (p.Ser540Pro)	GAS2L3 (S436P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098644	NM_174942.3(GAS2L3):c.1621G>A (p.Asp541Asn)	GAS2L3 (D437N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372320	NM_174942.3(GAS2L3):c.1667C>T (p.Ser556Leu)	GAS2L3 (S556L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492161	NM_174942.3(GAS2L3):c.1709C>G (p.Ser570Cys)	GAS2L3 (S466C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098645	NM_174942.3(GAS2L3):c.1809C>A (p.Ser603Arg)	GAS2L3 (S499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098647	NM_174942.3(GAS2L3):c.1976C>A (p.Pro659His)	GAS2L3 (P555H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098648	NM_174942.3(GAS2L3):c.1996G>A (p.Asp666Asn)	GAS2L3 (D666N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462069	NM_174942.3(GAS2L3):c.2018C>T (p.Thr673Ile)	GAS2L3 (T569I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527729	GRCh37/hg19 12q23.1(chr12:101005359-101064284)	GAS2L3	Copy number loss	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 815547	GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1	NR1H4, SLC17A8 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688212	GRCh37/hg19 12q23.1(chr12:100880334-101045578)x3	GAS2L3, NR1H4	Copy number gain	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 443406	GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3	ANO4, GAS2L3 +4 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 54