C4479603[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286328	NM_020971.3(SPTBN4):c.112G>A (p.Ala38Thr)	SPTBN4 (A38T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1333116	NM_020971.3(SPTBN4):c.785-29_785-28del	SPTBN4	Deletion (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	GBenign
Select item 1281527	NM_020971.3(SPTBN4):c.912A>G (p.Val304=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 768991	NM_020971.3(SPTBN4):c.1665+8C>G	SPTBN4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 1333117	NM_020971.3(SPTBN4):c.1713C>T (p.Asp571=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1333118	NM_020971.3(SPTBN4):c.2136A>G (p.Arg712=)	SPTBN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1224941	NM_020971.3(SPTBN4):c.3858-36G>A	SPTBN4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 1333119	NM_020971.3(SPTBN4):c.3991G>A (p.Gly1331Ser)	SPTBN4 (G1331S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1276432	NM_020971.3(SPTBN4):c.7026+30G>C	SPTBN4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign
Select item 1238408	NM_020971.3(SPTBN4):c.7320-34C>T	SPTBN4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1247034	NM_020971.3(SPTBN4):c.7494-24G>C	SPTBN4	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness +1 more	GBenign