LOC130060075[gene] - ClinVar

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Items: 31

	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 2532044	NM_001212.4(C1QBP):c.77C>T (p.Ser26Leu)	C1QBP, LOC130060075 (S26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2026259	NM_001212.4(C1QBP):c.75C>G (p.Ala25=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262375	NM_001212.4(C1QBP):c.64G>T (p.Ala22Ser)	C1QBP, LOC130060075 (A22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1945635	NM_001212.4(C1QBP):c.57C>T (p.Leu19=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262374	NM_001212.4(C1QBP):c.52G>C (p.Gly18Arg)	C1QBP, LOC130060075 (G18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154678	NM_001212.4(C1QBP):c.48C>G (p.Val16=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010619	NM_001212.4(C1QBP):c.45C>G (p.Ser15=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780794	NM_001212.4(C1QBP):c.33G>A (p.Val11=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965752	NM_001212.4(C1QBP):c.33G>T (p.Val11=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551259	NM_001212.4(C1QBP):c.27C>T (p.Pro9=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2238090	NM_001212.4(C1QBP):c.26C>G (p.Pro9Arg)	C1QBP, LOC130060075 (P9R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051505	NM_001212.4(C1QBP):c.24G>A (p.Val8=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910768	NM_001212.4(C1QBP):c.18C>G (p.Arg6=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1653449	NM_001212.4(C1QBP):c.17G>T (p.Arg6Leu)	C1QBP, LOC130060075 (R6L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2725666	NM_001212.4(C1QBP):c.15G>T (p.Leu5=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126727	NM_001212.4(C1QBP):c.11T>A (p.Leu4Gln)	C1QBP, LOC130060075 (L4Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421195	NM_001212.4(C1QBP):c.7C>A (p.Pro3Thr)	C1QBP, LOC130060075 (P3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987842	NM_001212.4(C1QBP):c.6G>A (p.Leu2=)	C1QBP, LOC130060075	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035369	NM_001212.4(C1QBP):c.-4C>T	C1QBP, LOC130060075	Single nucleotide variant (5 prime UTR variant)	C1QBP-related disorder	GLikely benign

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Items: 31