LOC101928994[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2316720	NM_025130.4(HKDC1):c.124C>T (p.Arg42Trp)	HKDC1, LOC101928994 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640544	NM_025130.4(HKDC1):c.126G>T (p.Arg42=)	HKDC1, LOC101928994	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2363391	NM_025130.4(HKDC1):c.130C>T (p.Arg44Trp)	HKDC1, LOC101928994 (R44W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321242	NM_025130.4(HKDC1):c.173C>T (p.Thr58Met)	HKDC1, LOC101928994 (T58M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 92	GPathogenic
Select item 709947	NM_025130.4(HKDC1):c.197C>T (p.Thr66Ile)	HKDC1, LOC101928994 (T66I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2282731	NM_025130.4(HKDC1):c.202G>A (p.Val68Ile)	HKDC1, LOC101928994 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance