KRT73-AS1[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 2249922	NM_175068.3(KRT73):c.1304G>A (p.Arg435His)	KRT73, KRT73-AS1 (R435H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3116623	NM_175068.3(KRT73):c.1243C>T (p.Arg415Cys)	KRT73, KRT73-AS1 (R415C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356139	NM_175068.3(KRT73):c.1204G>A (p.Ala402Thr)	KRT73, KRT73-AS1 (A402T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2254435	NM_175068.3(KRT73):c.1174G>A (p.Ala392Thr)	KRT73, KRT73-AS1 (A392T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3116622	NM_175068.3(KRT73):c.1026C>G (p.Asp342Glu)	KRT73, KRT73-AS1 (D342E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2513026	NM_175068.3(KRT73):c.1013G>A (p.Arg338Gln)	KRT73, KRT73-AS1 (R338Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2386249	NM_175068.3(KRT73):c.971T>C (p.Leu324Pro)	KRT73, KRT73-AS1 (L324P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2299040	NM_175068.3(KRT73):c.940G>A (p.Ala314Thr)	KRT73, KRT73-AS1 (A314T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2348645	NM_175068.3(KRT73):c.919C>A (p.Arg307Ser)	KRT73, KRT73-AS1 (R307S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2559799	NM_175068.3(KRT73):c.881A>G (p.Asn294Ser)	KRT73, KRT73-AS1 (N294S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3116634	NM_175068.3(KRT73):c.857C>G (p.Ser286Cys)	KRT73, KRT73-AS1 (S286C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2375499	NM_175068.3(KRT73):c.743C>G (p.Thr248Arg)	KRT73, KRT73-AS1 (T248R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance