ClinVar for Gene (Select 348801) - ClinVar

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

Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291026	NM_001085451.2(LNP1):c.58T>A (p.Phe20Ile)	LNP1 (F20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3119458	NM_001085451.2(LNP1):c.350G>T (p.Arg117Leu)	LNP1 (R117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2613402	NM_001085451.2(LNP1):c.245T>G (p.Val82Gly)	LNP1 (V82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604846	NM_001085451.2(LNP1):c.335C>T (p.Ser112Leu)	LNP1 (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2521989	NM_001085451.2(LNP1):c.309A>T (p.Arg103Ser)	LNP1 (R103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387115	NM_001085451.2(LNP1):c.106C>T (p.Arg36Cys)	LNP1 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337998	NM_001085451.2(LNP1):c.125C>T (p.Thr42Ile)	LNP1 (T42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336411	NM_001085451.2(LNP1):c.460G>A (p.Glu154Lys)	LNP1 (E154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335719	NM_001085451.2(LNP1):c.82G>A (p.Glu28Lys)	LNP1 (E28K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311251	NM_001085451.2(LNP1):c.458T>C (p.Val153Ala)	LNP1 (V153A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305509	NM_001085451.2(LNP1):c.373C>T (p.Arg125Cys)	LNP1 (R125C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266067	NM_001085451.2(LNP1):c.286G>C (p.Glu96Gln)	LNP1 (E96Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213817	NM_001085451.2(LNP1):c.204G>T (p.Arg68Ser)	LNP1 (R68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1687739	NM_001085451.2(LNP1):c.195_196insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA (p.Pro66delinsGlyIleProMetProIleValTer)	LNP1	Insertion (nonsense)	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	GBenign
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
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 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	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 150224	GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1	CMSS1, COL8A1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	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: 26