ClinVar for OMIM (Select 604033) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582671	NM_014230.4(SRP68):c.184+2T>C	SRP68, GALR2	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic
Select item 180220	NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)	CHCHD10 (R15L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 30510	NM_004738.5(VAPB):c.137C>T (p.Thr46Ile)	VAPB (T46I)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 8	GPathogenic

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