C4479603[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709125	NM_020971.3(SPTBN4):c.455T>G (p.Leu152Arg)	SPTBN4 (L152R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GUncertain significance
Select item 1709124	NM_020971.3(SPTBN4):c.7149del (p.Pro2384fs)	SPTBN4, LOC130064467 (P2384fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GLikely pathogenic