ClinVar (all) for Orgtrack (Select 505515) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1177644	NM_144991.3(TSPEAR):c.533C>T (p.Pro178Leu)	TSPEAR (P110L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208642	NM_000553.6(WRN):c.487_488del (p.Asp163fs)	WRN (D163fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 208641	NM_001040108.2(MLH3):c.2116del (p.Thr706fs)	MLH3 (T706fs)	Deletion (frameshift variant)	Colorectal cancer, hereditary nonpolyposis, type 7	GLikely pathogenic
Select item 208640	NM_020937.4(FANCM):c.1491dup (p.Gln498fs)	FANCM (Q498fs +1 more)	Duplication (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +2 more	GPathogenic/Likely pathogenic
Select item 208639	NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)	FANCI (K808* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group I +1 more	GPathogenic/Likely pathogenic
Select item 208638	NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	FANCA, ZNF276 (L1339fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 208637	NM_000057.4(BLM):c.3014_3015insTATCA (p.Met1006fs)	BLM (M631fs +1 more)	Insertion (frameshift variant)	Bloom syndrome	GLikely pathogenic
Select item 208636	NM_000051.4(ATM):c.4111del	ATM	Deletion (splice acceptor variant)	ATM-related condition +3 more	GPathogenic/Likely pathogenic
Select item 181865	NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	ATM, C11orf65 (Y2755fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 167066	NM_000143.4(FH):c.1067T>A (p.Leu356Ter)	FH (L356*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic