"Baylor Genetics"[submitter] AND "LOC129933843"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2675396	NM_001201543.2(FAM161A):c.142del (p.Asp48fs)	FAM161A, LOC129933843 (D48fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675375	NM_001201543.2(FAM161A):c.125_128delinsGGG (p.Ala42fs)	FAM161A, LOC129933843 (A42fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675368	NM_001201543.2(FAM161A):c.110_116dup (p.Ala40fs)	FAM161A, LOC129933843 (A40fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241530	NM_001201543.2(FAM161A):c.105del (p.Pro35_Leu36insTer)	FAM161A, LOC129933843	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241527	NM_001201543.2(FAM161A):c.90C>G (p.Tyr30Ter)	FAM161A, LOC129933843 (Y30*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 1075859	NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)	FAM161A, LOC129933843 (G24*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3241524	NM_001201543.2(FAM161A):c.64del (p.Ile22fs)	FAM161A, LOC129933843 (I22fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic

ClinVar