C0023138[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 330520	NM_001166114.2(PNPLA6):c.1253-6C>T	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +5 more	GBenign
Select item 330522	NM_001166114.2(PNPLA6):c.1362+8T>C	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +5 more	GBenign
Select item 1295442	NM_001166114.2(PNPLA6):c.2260+24G>A	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 1234311	NM_001166114.2(PNPLA6):c.2465+41C>G	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 1221245	NM_001166114.2(PNPLA6):c.2634+38G>C	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +4 more	GBenign
Select item 1221947	NM_001166114.2(PNPLA6):c.2634+39T>C	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 380864	NM_001166114.2(PNPLA6):c.2635-19A>C	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +5 more	GBenign
Select item 380865	NM_001166114.2(PNPLA6):c.2818-19A>G	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +5 more	GBenign
Select item 1268471	NM_001166114.2(PNPLA6):c.3280+38C>T	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +4 more	GBenign
Select item 1265729	NM_001166114.2(PNPLA6):c.3398-36G>A	PNPLA6	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1258779	NM_001166114.2(PNPLA6):c.3699+41C>T	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +4 more	GBenign
Select item 667948	NM_001166114.2(PNPLA6):c.3699+42G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +4 more	GBenign
Select item 429198	NM_001166114.2(PNPLA6):c.3913+23del	PNPLA6	Deletion (intron variant)	not provided +4 more	GBenign