Related gene-specific medical variations for Gene (Select 5834) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150201	NM_002862.4(PYGB):c.2485G>A (p.Glu829Lys)	ABHD12, PYGB (E829K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150199	NM_002862.4(PYGB):c.2375A>G (p.Tyr792Cys)	ABHD12, PYGB (Y792C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150198	NM_002862.4(PYGB):c.2324T>C (p.Phe775Ser)	ABHD12, PYGB (F775S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041643	NM_015600.5(ABHD12):c.1158-8T>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	ABHD12-related disorder	GLikely benign
Select item 3036409	NC_000020.11:g.25294968T>C	ABHD12, PYGB	Single nucleotide variant (3 prime UTR variant +1 more)	ABHD12-related disorder	GLikely benign
Select item 2622855	NM_002862.4(PYGB):c.2425T>C (p.Ser809Pro)	ABHD12, PYGB (S809P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617510	NM_002862.4(PYGB):c.16A>C (p.Thr6Pro)	LOC130065577, PYGB (T6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537356	NM_002862.4(PYGB):c.174C>G (p.His58Gln)	LOC130065578, PYGB (H58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498882	NM_015600.5(ABHD12):c.1196T>C (p.Met399Thr)	ABHD12, PYGB (M399T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2386305	NM_002862.4(PYGB):c.10C>T (p.Pro4Ser)	LOC130065577, PYGB (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384985	NM_002862.4(PYGB):c.2513C>G (p.Pro838Arg)	ABHD12, PYGB (P838R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339636	NM_002862.4(PYGB):c.2438C>T (p.Ser813Phe)	ABHD12, PYGB (S813F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318610	NM_002862.4(PYGB):c.2525G>A (p.Arg842Gln)	ABHD12, PYGB (R842Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273727	NM_002862.4(PYGB):c.2401A>G (p.Lys801Glu)	ABHD12, PYGB (K801E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251145	NM_002862.4(PYGB):c.2527G>T (p.Asp843Tyr)	ABHD12, PYGB (D843Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245636	NM_002862.4(PYGB):c.2447G>A (p.Arg816Gln)	ABHD12, PYGB (R816Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216703	NM_002862.4(PYGB):c.2345T>G (p.Met782Arg)	ABHD12, PYGB (M782R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1280514	NM_015600.5(ABHD12):c.*44AACTAA[1]	ABHD12, PYGB	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1269367	NM_015600.5(ABHD12):c.1203A>G (p.Ser401=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1252428	NM_015600.5(ABHD12):c.1158-129G>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244763	NM_015600.5(ABHD12):c.1158-177G>A	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231287	NM_015600.5(ABHD12):c.1158-224G>T	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228212	NM_015600.5(ABHD12):c.1207C>T (p.Leu403=)	ABHD12, PYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1221566	NM_015600.5(ABHD12):c.1158-204T>C	ABHD12, PYGB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215967	NM_015600.5(ABHD12):c.1158-92del	ABHD12, PYGB	Deletion (intron variant)	not provided	GLikely benign

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Links from Gene

Items: 25