"Baylor Genetics"[submitter] AND "SIN3A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441706	NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)	SIN3A (E836*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1031167	NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)	SIN3A (E754fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1031166	NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)	SIN3A (L669F)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1805544	NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)	SIN3A (R471*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1031165	NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)	SIN3A (K410fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1031168	NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)	SIN3A (H259P)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2442061	NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)	SIN3A	Duplication (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 625749	GRCh37/hg19 15q24.2(chr15:75648132-76102251)	CSPG4, IMP3 +6 more	Copy number loss	not provided	GPathogenic