LOC126807435[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 58788	GRCh38/hg38 5q14.1(chr5:79665668-81197686)x1	ANKRD34B, CMYA5 +40 more	Copy number loss	See cases	GUncertain significance
Select item 2455789	NM_003248.6(THBS4):c.2320A>G (p.Thr774Ala)	LOC126807435, THBS4 +1 more (T774A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177005	NM_003248.6(THBS4):c.2321C>T (p.Thr774Ile)	LOC126807435, THBS4 +1 more (T683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177006	NM_003248.6(THBS4):c.2382C>A (p.Asp794Glu)	LOC126807435, THBS4 +1 more (D794E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606724	NM_003248.6(THBS4):c.2407C>G (p.Gln803Glu)	LOC126807435, THBS4 +1 more (Q712E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300491	NM_003248.6(THBS4):c.2428G>A (p.Val810Met)	LOC126807435, THBS4 +1 more (V810M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533242	NM_003248.6(THBS4):c.2458T>C (p.Tyr820His)	LOC126807435, THBS4 +1 more (Y729H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3177007	NM_003248.6(THBS4):c.2567C>T (p.Thr856Met)	LOC126807435, THBS4 +1 more (T765M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance