ClinVar for Gene (Select 126860019) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2410444	NM_015052.5(HECW1):c.4538G>A (p.Arg1513His)	HECW1, LOC126860019 (R1479H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711000	NM_015052.5(HECW1):c.4515C>T (p.Tyr1505=)	HECW1, LOC126860019	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710999	NM_015052.5(HECW1):c.4511-6G>A	HECW1, LOC126860019	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 150967	GRCh38/hg38 7p14.1-13(chr7:42452844-43608265)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	LOC126860033, LOC126860034 +426 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59681	GRCh38/hg38 7p14.1-13(chr7:42388724-43606751)x3	C7orf25, HECW1 +27 more	Copy number gain	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic