LOC126862558[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2222737	NM_181535.3(KRT28):c.665C>T (p.Thr222Ile)	KRT28, LOC126862558 (T222I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480246	NM_181535.3(KRT28):c.658G>A (p.Glu220Lys)	KRT28, LOC126862558 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551313	NM_181535.3(KRT28):c.625G>C (p.Asp209His)	KRT28, LOC126862558 (D209H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363533	NM_181535.3(KRT28):c.605A>G (p.Glu202Gly)	KRT28, LOC126862558 (E202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116428	NM_181535.3(KRT28):c.604G>A (p.Glu202Lys)	KRT28, LOC126862558 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289394	NM_181535.3(KRT28):c.561A>T (p.Gln187His)	KRT28, LOC126862558 (Q187H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219306	NM_181535.3(KRT28):c.464C>G (p.Thr155Ser)	KRT28, LOC126862558 (T155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance