Related gene-specific medical variations for Gene (Select 1288) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065545	NM_033641.4(COL4A6):c.546+1G>A	COL4A6	Single nucleotide variant (splice donor variant)	Hearing loss, X-linked 6	GUncertain significance
Select item 2440327	NM_033641.4(COL4A6):c.628G>C (p.Gly210Arg)	COL4A6 (G210R +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6	GUncertain significance
Select item 2440326	NM_033641.4(COL4A6):c.2506G>A (p.Gly836Ser)	COL4A6 (G836S +2 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6	GUncertain significance
Select item 2440325	NM_033641.4(COL4A6):c.74C>T (p.Ser25Phe)	COL4A6 (S25F +1 more)	Single nucleotide variant (missense variant)	Hearing loss, X-linked 6	GUncertain significance
Select item 804593	NM_033641.4(COL4A6):c.1305_1313dup (p.432GPP[4])	COL4A6	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 153199	GRCh38/hg38 Xq22.3(chrX:108213060-108266828)x2	COL4A6	Copy number gain	See cases	GUncertain significance

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