"OMIM"[submitter] AND "SPATA22"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370408	NM_001170698.2(SPATA22):c.900+1G>A	SPATA22	Single nucleotide variant (splice donor variant +1 more)	PREMATURE OVARIAN FAILURE 25	GPathogenic
Select item 3370406	NM_001170698.2(SPATA22):c.400C>T (p.Arg134Ter)	SPATA22 (R134* +2 more)	Single nucleotide variant (nonsense)	SPERMATOGENIC FAILURE 96 +1 more	GPathogenic
Select item 2691735	NM_001170698.2(SPATA22):c.253del (p.Ser85fs)	SPATA22 (S42fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3370407	NM_001170698.2(SPATA22):c.31C>T (p.Arg11Ter)	SPATA22 (R11*)	Single nucleotide variant (nonsense)	PREMATURE OVARIAN FAILURE 25	GPathogenic
Select item 189049	NM_000049.4(ASPA):c.32del (p.Ile11fs)	SPATA22, ASPA (I11fs)	Deletion (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 2614	NM_000049.4(ASPA):c.71A>G (p.Glu24Gly)	ASPA, SPATA22 (E24G)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GLikely pathogenic
Select item 2616	NM_000049.4(ASPA):c.212G>A (p.Arg71His)	ASPA, SPATA22 (R71H)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 2606	NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	ASPA, SPATA22 (C152R)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 2613	NM_000049.4(ASPA):c.530_634+3del	ASPA, SPATA22	Deletion (splice acceptor variant +2 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2608	NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)	ASPA, SPATA22 (C218*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic
Select item 2612	NM_000049.4(ASPA):c.692A>G (p.Tyr231Cys)	ASPA, SPATA22 (Y231C)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic
Select item 2609	NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)	ASPA, SPATA22 (Y231*)	Single nucleotide variant (nonsense +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic
Select item 2615	NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	ASPA, SPATA22 (D249V)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system	GPathogenic/Likely pathogenic
Select item 2605	NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	ASPA, SPATA22 (E285A)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic
Select item 371665	NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	ASPA, SPATA22 (E293fs)	Microsatellite (frameshift variant +1 more)	Spongy degeneration of central nervous system +1 more	GPathogenic/Likely pathogenic
Select item 2607	NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	ASPA, SPATA22 (A305E)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +3 more	GPathogenic