LOC728392[gene] - ClinVar - NCBI

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Items: 15

	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 2382396	NM_001162371.3(LOC728392):c.338A>G (p.Tyr113Cys)	LOC728392 (Y113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231694	NM_001162371.3(LOC728392):c.130T>G (p.Ser44Ala)	LOC728392 (S44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231497	NM_001162371.3(LOC728392):c.124T>G (p.Ser42Ala)	LOC728392 (S42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance