ClinVar for MedGen (Select 347798) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1333230	NM_001166114.2(PNPLA6):c.3832A>G (p.Ser1278Gly)	PNPLA6 (S1213G +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GUncertain significance
Select item 1333223	NM_001166114.2(PNPLA6):c.833C>G (p.Ala278Gly)	PNPLA6 (A239G +2 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +1 more	GUncertain significance
Select item 1295442	NM_001166114.2(PNPLA6):c.2260+24G>A	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +4 more	GBenign
Select item 1268471	NM_001166114.2(PNPLA6):c.3280+38C>T	PNPLA6	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1265729	NM_001166114.2(PNPLA6):c.3398-36G>A	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +4 more	GBenign
Select item 1258779	NM_001166114.2(PNPLA6):c.3699+41C>T	PNPLA6	Single nucleotide variant (intron variant)	not provided +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)	Hereditary spastic paraplegia 39 +4 more	GBenign
Select item 1221245	NM_001166114.2(PNPLA6):c.2634+38G>C	PNPLA6	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 39 +4 more	GBenign
Select item 1195875	NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)	PNPLA6 (S1035L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 1027474	NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter)	PNPLA6 (R1286* +3 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 39 +3 more	GConflicting classifications of pathogenicity
Select item 1027473	NM_001166114.2(PNPLA6):c.3335C>T (p.Pro1112Leu)	PNPLA6 (P1047L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 1027451	NM_001166114.2(PNPLA6):c.2993A>G (p.Asp998Gly)	PNPLA6 (D1008G +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GLikely pathogenic
Select item 1027450	NM_001166114.2(PNPLA6):c.3358C>T (p.His1120Tyr)	PNPLA6 (H1055Y +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GLikely pathogenic
Select item 1027449	NM_001166114.2(PNPLA6):c.2237A>C (p.Gln746Pro)	PNPLA6 (Q681P +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GLikely pathogenic
Select item 872466	NM_001166114.2(PNPLA6):c.316-2A>T	PNPLA6	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 807470	NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)	PNPLA6 (A618V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
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 567501	NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	PNPLA6 (S438L +2 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +4 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 430849	NM_006702.4(PNPLA6):c.[3242G>T];[3390G>C]			Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 429198	NM_001166114.2(PNPLA6):c.3913+23del	PNPLA6	Deletion (intron variant)	not provided +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 409993	NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)	PNPLA6 (G1081R +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 380865	NM_001166114.2(PNPLA6):c.2818-19A>G	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +5 more	GBenign
Select item 380864	NM_001166114.2(PNPLA6):c.2635-19A>C	PNPLA6	Single nucleotide variant (intron variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome +5 more	GBenign
Select item 374055	NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	PNPLA6 (R1311W +3 more)	Single nucleotide variant (missense variant)	PNPLA6-related disorder +8 more	GConflicting classifications of pathogenicity
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 +5 more	GBenign
Select item 240703	NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu)	MCOLN1, PNPLA6 (V22L +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +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)	not provided +5 more	GUncertain significance
Select item 183693	NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)	PNPLA6 (R1099Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GPathogenic
Select item 156539	NM_001166114.2(PNPLA6):c.3409C>T (p.Arg1137Cys)	PNPLA6 (R1099C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GUncertain significance
Select item 156538	NM_001166114.2(PNPLA6):c.1243dup (p.Asp415fs)	PNPLA6 (D376fs +2 more)	Duplication (frameshift variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 143933	NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)	PNPLA6 (G578W +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 101042	NM_001166114.2(PNPLA6):c.3167T>C (p.Phe1056Ser)	PNPLA6 (F1066S +3 more)	Single nucleotide variant (missense variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 101041	NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met)	PNPLA6 (V1110M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +1 more	GConflicting classifications of pathogenicity
Select item 101040	NM_001166114.2(PNPLA6):c.2185-1G>C	PNPLA6	Single nucleotide variant (splice acceptor variant)	Ataxia-hypogonadism-choroidal dystrophy syndrome	GPathogenic
Select item 101039	NM_001166114.2(PNPLA6):c.3143C>T (p.Thr1048Ile)	PNPLA6 (T1058I +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic
Select item 6607	NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	PNPLA6 (R1031fs +3 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia +7 more	GPathogenic
Select item 6605	NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)	PNPLA6 (M1012V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39	GPathogenic

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Items: 42