LOC130060074[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 153939	GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3	C1QBP, DERL2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 145540	GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3	C1QBP, DERL2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2103920	NM_001212.4(C1QBP):c.232+20G>C	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007896	NM_001212.4(C1QBP):c.232+17C>T	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999410	NM_001212.4(C1QBP):c.232+14G>A	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3051455	NM_001212.4(C1QBP):c.232+3G>A	C1QBP, LOC130060074	Single nucleotide variant (intron variant)	C1QBP-related disorder	GLikely benign
Select item 1929262	NM_001212.4(C1QBP):c.232G>A (p.Gly78Arg)	C1QBP, LOC130060074 (G78R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193377	NM_001212.4(C1QBP):c.218C>G (p.Ser73Trp)	LOC130060074, C1QBP (S73W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900882	NM_001212.4(C1QBP):c.210C>G (p.Gly70=)	C1QBP, LOC130060074	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076452	NM_001212.4(C1QBP):c.207T>C (p.Cys69=)	C1QBP, LOC130060074	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133073	NM_001212.4(C1QBP):c.206G>T (p.Cys69Phe)	C1QBP, LOC130060074 (C69F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 21