"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "COL4A6"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 725957	NM_033641.4(COL4A6):c.4550G>A (p.Arg1517His)	COL4A6 (R1460H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2661162	NM_033641.4(COL4A6):c.3919G>C (p.Asp1307His)	COL4A6 (D1283H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661163	NM_033641.4(COL4A6):c.3900A>T (p.Gly1300=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1317185	NM_033641.4(COL4A6):c.2807G>A (p.Arg936His)	COL4A6 (R936H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661164	NM_033641.4(COL4A6):c.2733T>C (p.Gly911=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 595199	NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn)	COL4A6 (K896N +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1595860	NM_033641.4(COL4A6):c.2643C>A (p.Gly881=)	COL4A6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 493542	NM_033641.4(COL4A6):c.2371G>A (p.Gly791Ser)	COL4A6 (G792S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1622812	NM_033641.4(COL4A6):c.2367G>T (p.Lys789Asn)	COL4A6 (K789N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2351887	NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)	COL4A6 (G745S +2 more)	Single nucleotide variant (missense variant)	COL4A6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2661165	NM_033641.4(COL4A6):c.1885C>T (p.Arg629Cys)	COL4A6 (R629C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351886	NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)	COL4A6 (E462K +1 more)	Single nucleotide variant (missense variant)	COL4A6-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1973327	NM_033641.4(COL4A6):c.953A>G (p.Lys318Arg)	COL4A6 (K319R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2661166	NM_033641.4(COL4A6):c.609+7T>C	COL4A6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 807799	NM_033641.4(COL4A6):c.181G>A (p.Gly61Ser)	COL4A6 (G62S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance