ClinVar for Gene (Select 644974) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284155	NM_001136152.1(ALG1L2):c.485A>C (p.Lys162Thr)	ALG1L2 (K162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284146	NM_001136152.1(ALG1L2):c.160C>T (p.Arg54Trp)	ALG1L2, LINC02014 (R54W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111112	NM_001136152.1(ALG1L2):c.572G>A (p.Arg191His)	ALG1L2 (R191H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111086	NM_001136152.1(ALG1L2):c.344G>A (p.Arg115His)	ALG1L2 (R115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111075	NM_001136152.1(ALG1L2):c.31G>A (p.Val11Ile)	ALG1L2, LINC02014 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111059	NM_001136152.1(ALG1L2):c.237C>A (p.Ser79Arg)	ALG1L2, LINC02014 (S79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111053	NM_001136152.1(ALG1L2):c.217C>G (p.Arg73Gly)	ALG1L2, LINC02014 (R73G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111038	NM_001136152.1(ALG1L2):c.128C>T (p.Ala43Val)	ALG1L2, LINC02014 (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685931	GRCh37/hg19 3q22.1(chr3:129582090-129914957)x3	ALG1L2, TMCC1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2654130	NM_001136152.1(ALG1L2):c.12T>C (p.Thr4=)	ALG1L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616339	NM_001136152.1(ALG1L2):c.413C>A (p.Pro138His)	ALG1L2 (P138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595501	NM_001136152.1(ALG1L2):c.455C>T (p.Thr152Met)	ALG1L2 (T152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536241	NM_001136152.1(ALG1L2):c.53T>C (p.Phe18Ser)	ALG1L2, LINC02014 (F18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482978	NM_001136152.1(ALG1L2):c.205C>T (p.Arg69Cys)	ALG1L2, LINC02014 (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472787	NM_001136152.1(ALG1L2):c.37G>A (p.Asp13Asn)	ALG1L2, LINC02014 (D13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458104	NM_001136152.1(ALG1L2):c.629C>T (p.Ala210Val)	ALG1L2 (A210V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2398926	NM_001136152.1(ALG1L2):c.203C>T (p.Thr68Met)	ALG1L2, LINC02014 (T68M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391503	NM_001136152.1(ALG1L2):c.282G>C (p.Gln94His)	ALG1L2, LINC02014 (Q94H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386326	NM_001136152.1(ALG1L2):c.335A>G (p.Tyr112Cys)	ALG1L2 (Y112C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383923	NM_001136152.1(ALG1L2):c.322C>A (p.Pro108Thr)	ALG1L2 (P108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360757	NM_001136152.1(ALG1L2):c.440A>G (p.Asp147Gly)	ALG1L2 (D147G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2341117	NM_001136152.1(ALG1L2):c.250A>G (p.Thr84Ala)	ALG1L2, LINC02014 (T84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321142	NM_001136152.1(ALG1L2):c.206G>A (p.Arg69His)	ALG1L2, LINC02014 (R69H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314700	NM_001136152.1(ALG1L2):c.575T>C (p.Leu192Pro)	ALG1L2 (L192P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288176	NM_001136152.1(ALG1L2):c.493G>A (p.Asp165Asn)	ALG1L2 (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258730	NM_001136152.1(ALG1L2):c.289C>T (p.Pro97Ser)	ALG1L2, LINC02014 (P97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237721	NM_001136152.1(ALG1L2):c.64G>A (p.Ala22Thr)	ALG1L2, LINC02014 (A22T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2227292	NM_001136152.1(ALG1L2):c.110C>T (p.Thr37Met)	ALG1L2, LINC02014 (T37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225728	NM_001136152.1(ALG1L2):c.370C>T (p.His124Tyr)	ALG1L2 (H124Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215243	NM_001136152.1(ALG1L2):c.232G>A (p.Val78Ile)	ALG1L2, LINC02014 (V78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 204362	Single allele	ALG1L2	Deletion	Autism	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 148835	GRCh38/hg38 3q22.1(chr3:129855684-130536179)x1	ALG1L2, COL6A5 +17 more	Copy number loss	See cases	GUncertain significance
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45