"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579242	GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579241	GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579246	GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GUncertain significance
Select item 2579240	GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1	PRPF31, PRPF31-AS1 +1 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 866568	NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)	PRPF31 (D56fs)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 2579239	GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1	PRPF31, PRPF31-AS1	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579238	GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1	PRPF31, PRPF31-AS1	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 1297103	NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs)	PRPF31 (L179fs)	Indel (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 500443	NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)	PRPF31 (R211Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 865976	NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	PRPF31 (C299R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 280597	NM_015629.4(PRPF31):c.950del (p.Gly317fs)	PRPF31 (G317fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236425	NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	PRPF31 (R354*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1297105	NM_015629.4(PRPF31):c.1095del (p.Leu366fs)	PRPF31 (L366fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 987444	NM_015629.4(PRPF31):c.1146+2T>G	PRPF31	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1297104	NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	PRPF31 (Q389*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic