"OMIM"[submitter] AND "RNASE4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 18073	NM_001097577.3(ANG):c.107A>T (p.Gln36Leu)	ANG, EGILA +1 more (Q36L)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18075	NM_001097577.3(ANG):c.121A>G (p.Lys41Glu)	ANG, EGILA +1 more (K41E)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18074	NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)	ANG, EGILA +1 more (K41I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18080	NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)	ANG, EGILA +1 more (S52N)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GLikely pathogenic
Select item 18076	NM_001097577.3(ANG):c.164G>A (p.Arg55Lys)	ANG, EGILA +1 more (R55K)	Single nucleotide variant (non-coding transcript variant +2 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18077	NM_001097577.3(ANG):c.189C>G (p.Cys63Trp)	ANG, EGILA +1 more (C63W)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18078	NM_001097577.3(ANG):c.191A>T (p.Lys64Ile)	ANG, EGILA +1 more (K64I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic
Select item 18079	NM_001097577.3(ANG):c.208A>G (p.Ile70Val)	ANG, EGILA +1 more (I70V)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 more	GConflicting classifications of pathogenicity
Select item 18081	NM_001097577.3(ANG):c.407C>T (p.Pro136Leu)	ANG, EGILA +1 more (P136L)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9 +2 more	GConflicting classifications of pathogenicity
Select item 18082	NM_001097577.3(ANG):c.409G>A (p.Val137Ile)	ANG, EGILA +1 more (V137I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 9	GPathogenic