LOC129994095[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 2513333	NM_032367.4(ZBED3):c.334G>A (p.Ala112Thr)	LOC129994095, ZBED3 (A112T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191801	NM_032367.4(ZBED3):c.286G>A (p.Ala96Thr)	LOC129994095, ZBED3 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191800	NM_032367.4(ZBED3):c.235G>C (p.Gly79Arg)	LOC129994095, ZBED3 (G79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394204	NM_032367.4(ZBED3):c.230G>C (p.Gly77Ala)	LOC129994095, ZBED3 (G77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404807	NM_032367.4(ZBED3):c.224A>T (p.Gln75Leu)	LOC129994095, ZBED3 (Q75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343836	NM_032367.4(ZBED3):c.221A>C (p.Glu74Ala)	LOC129994095, ZBED3 (E74A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389600	NM_032367.4(ZBED3):c.218G>C (p.Gly73Ala)	LOC129994095, ZBED3 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389599	NM_032367.4(ZBED3):c.217G>C (p.Gly73Arg)	LOC129994095, ZBED3 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247520	NM_032367.4(ZBED3):c.196T>C (p.Trp66Arg)	LOC129994095, ZBED3 (W66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475628	NM_032367.4(ZBED3):c.178G>A (p.Gly60Arg)	LOC129994095, ZBED3 (G60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance