C0271385[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523415	NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)	EYS, PHF3 (E2840G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Pigmentary retinopathy +11 more	GUncertain significance
Select item 198157	NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1 (R122* +2 more)	Single nucleotide variant (nonsense)	Global developmental delay +10 more	GPathogenic
Select item 3807	NM_000372.5(TYR):c.1A>G (p.Met1Val)	TYR (M1V)	Single nucleotide variant (missense variant +1 more)	Foveal hypoplasia +18 more	GPathogenic/Likely pathogenic
Select item 3781	NM_000372.5(TYR):c.265T>C (p.Cys89Arg)	TYR (C89R)	Single nucleotide variant (missense variant)	Albinism +9 more	GPathogenic
Select item 523363	NM_000372.5(TYR):c.1352A>G (p.Tyr451Cys)	TYR (Y451C)	Single nucleotide variant (missense variant)	Fair hair +10 more	GPathogenic/Likely pathogenic
Select item 523527	NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs)	RPGRIP1 (V857fs +1 more)	Duplication (frameshift variant +1 more)	Color vision defect +3 more	GLikely pathogenic
Select item 523565	NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)	OTX2 (L64fs +1 more)	Indel (frameshift variant)	Nystagmus +8 more	GLikely pathogenic
Select item 191059	NM_014249.4(NR2E3):c.119-2A>C	NR2E3	Single nucleotide variant (splice acceptor variant)	Enhanced S-cone syndrome +11 more	GPathogenic/Likely pathogenic
Select item 523498	NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)	KIF4A (R518P)	Single nucleotide variant (missense variant)	Generalized hypotonia +9 more	GUncertain significance