GLIPR1L1[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 147046	GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1	ATXN7L3B, BBS10 +125 more	Copy number loss	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	LRRIQ1, LUM +287 more	Copy number loss	See cases	GPathogenic
Select item 153539	GRCh38/hg38 12q21.1-21.2(chr12:75019031-75720674)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 144519	GRCh38/hg38 12q21.1-21.2(chr12:75021678-75683757)x3	CAPS2, GLIPR1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2556360	NM_001304964.2(GLIPR1L1):c.154G>A (p.Ala52Thr)	CAPS2, GLIPR1L1 (A52T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324255	NM_001304964.2(GLIPR1L1):c.182A>G (p.Asp61Gly)	CAPS2, GLIPR1L1 (D61G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378856	NM_001304964.2(GLIPR1L1):c.230T>C (p.Phe77Ser)	CAPS2, GLIPR1L1 (F77S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283938	NM_001304964.2(GLIPR1L1):c.404G>A (p.Cys135Tyr)	CAPS2, GLIPR1L1 (C135Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267921	NM_001304964.2(GLIPR1L1):c.463A>G (p.Met155Val)	CAPS2, GLIPR1L1 (M155V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331261	NM_001304964.2(GLIPR1L1):c.523G>A (p.Gly175Arg)	CAPS2, GLIPR1L1 (G175R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604109	NM_001304964.2(GLIPR1L1):c.545C>T (p.Pro182Leu)	CAPS2, GLIPR1L1 (P182L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540365	NM_001304964.2(GLIPR1L1):c.550G>C (p.Val184Leu)	CAPS2, GLIPR1L1 (V184L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281603	NM_001304964.2(GLIPR1L1):c.560A>C (p.Glu187Ala)	CAPS2, GLIPR1L1 (E187A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 1808753	GRCh37/hg19 12q21.1-21.2(chr12:75417920-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527713	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)	CAPS2, GLIPR1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1341251	GRCh37/hg19 12q21.1-21.2(chr12:75412811-76110508)x3	CAPS2, GLIPR1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340527	GRCh37/hg19 12q15-21.2(chr12:70084476-77065764)x1	TBC1D15, THAP2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563957	GRCh37/hg19 12q21.1-21.2(chr12:75417919-76110508)x3	GLIPR1, GLIPR1L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 27