ClinVar for MedGen (Select 44078) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805817	NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)	PNPLA6 (V473M +3 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome	GUncertain significance
Select item 1679717	NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	PNPLA6 (T10R +1 more)	Single nucleotide variant (missense variant +1 more)	Ataxia-hypogonadism-choroidal dystrophy syndrome +3 more	GUncertain significance
Select item 1295442	NM_001166114.2(PNPLA6):c.2260+24G>A	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +4 more	GBenign
Select item 1268471	NM_001166114.2(PNPLA6):c.3280+38C>T	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 1265729	NM_001166114.2(PNPLA6):c.3398-36G>A	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +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 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 1221947	NM_001166114.2(PNPLA6):c.2634+39T>C	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon 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 1030131	NM_001166114.2(PNPLA6):c.1769A>C (p.Gln590Pro)	PNPLA6 (Q590P +3 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome	GUncertain significance
Select item 1001408	NM_001166114.2(PNPLA6):c.3746G>A (p.Arg1249His)	PNPLA6 (R1184H +3 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome +1 more	GUncertain significance
Select item 667948	NM_001166114.2(PNPLA6):c.3699+42G>A	PNPLA6	Single nucleotide variant (intron variant)	Laurence-Moon syndrome +4 more	GBenign
Select item 567501	NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	PNPLA6 (S438L +2 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome +3 more	GUncertain significance
Select item 547855	NM_001166114.2(PNPLA6):c.1492G>A (p.Ala498Thr)	PNPLA6 (A459T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +3 more	GUncertain significance
Select item 429198	NM_001166114.2(PNPLA6):c.3913+23del	PNPLA6	Deletion (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 409994	NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)	PNPLA6 (P1297S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 380865	NM_001166114.2(PNPLA6):c.2818-19A>G	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +4 more	GBenign
Select item 380864	NM_001166114.2(PNPLA6):c.2635-19A>C	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +4 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 330520	NM_001166114.2(PNPLA6):c.1253-6C>T	PNPLA6	Single nucleotide variant (intron variant)	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome +4 more	GBenign
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome +8 more	GBenign/Likely benign
Select item 240694	NM_001166114.2(PNPLA6):c.3095G>C (p.Ser1032Thr)	PNPLA6 (S994T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 183694	NM_001166114.2(PNPLA6):c.2149G>C (p.Gly717Arg)	PNPLA6 (G652R +3 more)	Single nucleotide variant (missense variant)	Laurence-Moon syndrome	GPathogenic
Select item 6607	NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	PNPLA6 (R1031fs +3 more)	Duplication (frameshift variant)	PNPLA6-related disorders +7 more	GPathogenic

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Items: 24