LOC126860057[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +228 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +113 more	Copy number gain	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998532, LOC129998533 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	LOC129998632, LOC129998633 +349 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, AUTS2 +157 more	Copy number loss	See cases	GPathogenic
Select item 1338843	GRCh38/hg38 7q11.21(chr7:66791158-67272772)	LINC02604, LOC121740683 +16 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 2479688	NM_017994.5(TMEM248):c.599A>G (p.Gln200Arg)	LOC126860057, TMEM248 (Q200R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570363	NM_017994.5(TMEM248):c.634G>A (p.Ala212Thr)	TMEM248, LOC126860057 (A212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248383	NM_017994.5(TMEM248):c.659C>T (p.Thr220Ile)	LOC126860057, TMEM248 (T220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance