"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SPATA22"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2647233	NM_001170698.2(SPATA22):c.915G>A (p.Pro305=)	SPATA22	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024999	NM_001170698.2(SPATA22):c.233+8G>A	SPATA22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2616	NM_000049.4(ASPA):c.212G>A (p.Arg71His)	ASPA, SPATA22 (R71H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 808197	NM_000049.4(ASPA):c.276G>C (p.Arg92Ser)	ASPA, SPATA22 (R92S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1176650	NM_000049.4(ASPA):c.361A>G (p.Asn121Asp)	ASPA, SPATA22 (N121D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 813438	NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	ASPA, SPATA22 (R168C)	Single nucleotide variant (missense variant +1 more)	Spongy degeneration of central nervous system +2 more	GPathogenic/Likely pathogenic
Select item 188940	NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	ASPA, SPATA22 (P181T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 698328	NM_000049.4(ASPA):c.621T>C (p.His207=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +1 more	GLikely benign
Select item 551174	NM_000049.4(ASPA):c.634+1G>T	ASPA, SPATA22	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 699687	NM_000049.4(ASPA):c.637A>G (p.Lys213Glu)	ASPA, SPATA22 (K213E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 444392	NM_000049.4(ASPA):c.716T>G (p.Ile239Ser)	ASPA, SPATA22 (I239S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 188803	NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	SPATA22, ASPA (A287T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic