"GeneDx"[submitter] AND "TTC8"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58333	GRCh38/hg38 14q31.3(chr14:88680251-89032671)x3	EML5, LOC126862017 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1276664	NM_144596.4(TTC8):c.114+233T>C	TTC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262516	NM_144596.4(TTC8):c.329+48T>C	TTC8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1364950	NM_144596.4(TTC8):c.446G>A (p.Arg149His)	TTC8 (R139H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1058128	NM_144596.4(TTC8):c.466G>A (p.Gly156Arg)	TTC8 (G146R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1227253	NM_144596.4(TTC8):c.624+152T>C	TTC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315300	NM_144596.4(TTC8):c.624+2779del	TTC8 (G209fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1313012	NM_144596.4(TTC8):c.799-6T>A	TTC8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 423070	NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)	TTC8 (R341W +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 51 +3 more	GUncertain significance
Select item 1258661	NM_144596.4(TTC8):c.1432-317G>A	TTC8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 314807	NM_144596.4(TTC8):c.*238G>A	TTC8	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 8 +2 more	GBenign