ClinVar for MedGen (Select 436373) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727244	NM_001042472.3(ABHD12):c.601dup (p.Val201fs)	ABHD12 (V201fs)	Duplication (frameshift variant)	PHARC syndrome	GPathogenic
Select item 1710109	NM_001042472.3(ABHD12):c.788-1G>T	ABHD12	Single nucleotide variant (splice acceptor variant)	PHARC syndrome	GLikely pathogenic
Select item 1684636	NC_000020.11:g.25387767_25393170del	ABHD12, LOC130065583 +3 more	Deletion	PHARC syndrome	GPathogenic
Select item 1684542	NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg)	ABHD12 (G182R)	Single nucleotide variant (missense variant)	PHARC syndrome	GUncertain significance
Select item 1448947	NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser)	ABHD12, LOC130065586 (A32S)	Single nucleotide variant (missense variant)	PHARC syndrome +2 more	GUncertain significance
Select item 1322604	NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter)	ABHD12 (Q339*)	Single nucleotide variant (nonsense)	PHARC syndrome	GPathogenic
Select item 1188989	NM_001042472.3(ABHD12):c.191+24G>C	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188988	NM_001042472.3(ABHD12):c.191+31_191+36del	ABHD12, LOC130065585	Deletion (intron variant)	PHARC syndrome +1 more	GBenign
Select item 1188931	NM_001042472.3(ABHD12):c.951-79A>G	ABHD12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188930	NM_001042472.3(ABHD12):c.1029+247_1029+248insC	ABHD12	Insertion (intron variant)	PHARC syndrome +1 more	GBenign
Select item 1057037	NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val)	ABHD12, LOC126863008 (G207V)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GUncertain significance
Select item 1032573	NM_001042472.3(ABHD12):c.867+2C>T	ABHD12	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1032572	NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln)	ABHD12, LOC126863008 (R218Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 999705	NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg)	ABHD12 (C323R)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GUncertain significance
Select item 898715	NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)	ABHD12, LOC130065586 (A9V)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GUncertain significance
Select item 898714	NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly)	ABHD12, LOC130065586 (A46G)	Single nucleotide variant (missense variant)	PHARC syndrome	GUncertain significance
Select item 898650	NM_001042472.3(ABHD12):c.*22A>G	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 898649	NM_001042472.3(ABHD12):c.*149G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 898648	NM_001042472.3(ABHD12):c.*177C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 897560	NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val)	ABHD12 (A56V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897559	NM_001042472.3(ABHD12):c.191+15G>A	ABHD12, LOC130065585	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897558	NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val)	ABHD12 (I84V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 897494	NM_001042472.3(ABHD12):c.*331G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 897493	NM_001042472.3(ABHD12):c.*331G>C	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 897083	NM_001042472.3(ABHD12):c.542+6G>A	ABHD12	Single nucleotide variant (intron variant)	PHARC syndrome	GUncertain significance
Select item 897082	NM_001042472.3(ABHD12):c.718G>A (p.Val240Met)	ABHD12, LOC126863008 (V240M)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 897081	NM_001042472.3(ABHD12):c.792G>T (p.Thr264=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 897013	NM_001042472.3(ABHD12):c.*541G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 895671	NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln)	ABHD12 (R292Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 895670	NM_001042472.3(ABHD12):c.960C>T (p.His320=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 895669	NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 848451	NM_001042472.3(ABHD12):c.315C>T (p.Phe105=)	ABHD12	Single nucleotide variant (synonymous variant)	PHARC syndrome +1 more	GUncertain significance
Select item 676565	NM_001042472.3(ABHD12):c.423-68C>T	ABHD12	Single nucleotide variant (intron variant)	PHARC syndrome +1 more	GBenign
Select item 545443	NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)	ABHD12	Deletion (inframe_deletion)	PHARC syndrome	GLikely pathogenic
Select item 518455	NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter)	ABHD12 (Y83*)	Single nucleotide variant (nonsense)	PHARC syndrome	GPathogenic
Select item 452247	NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)	ABHD12 (R292*)	Single nucleotide variant (nonsense)	PHARC syndrome +1 more	GPathogenic/Likely pathogenic
Select item 438131	NM_001042472.3(ABHD12):c.620-2A>G	ABHD12, LOC126863008	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 430695	NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs)	ABHD12 (R71fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 385607	NM_001042472.3(ABHD12):c.836G>A (p.Arg279His)	ABHD12 (R279H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 369354	NM_015600.5(ABHD12):c.1157+2023C>T	ABHD12	Single nucleotide variant (intron variant)	PHARC syndrome	GUncertain significance
Select item 338006	NM_001042472.2(ABHD12):c.-260G>A	ABHD12, LOC130065586	Single nucleotide variant	PHARC syndrome	GUncertain significance
Select item 338005	NM_001042472.2(ABHD12):c.-221G>A	ABHD12, LOC130065586	Single nucleotide variant	PHARC syndrome	GUncertain significance
Select item 338004	NM_001042472.2(ABHD12):c.-220G>A	ABHD12, LOC130065586	Single nucleotide variant	not provided +1 more	GBenign
Select item 338003	NM_001042472.3(ABHD12):c.-118T>C	LOC130065586, ABHD12	Single nucleotide variant (5 prime UTR variant)	PHARC syndrome	GUncertain significance
Select item 338002	NM_001042472.3(ABHD12):c.-94C>T	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 338001	NM_001042472.3(ABHD12):c.-82_-76del	ABHD12, LOC130065586	Deletion (5 prime UTR variant)	PHARC syndrome	GUncertain significance
Select item 338000	NM_001042472.3(ABHD12):c.-44C>G	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337999	NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	ABHD12, LOC130065586	Insertion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 337998	NM_001042472.3(ABHD12):c.202G>A (p.Val68Met)	ABHD12 (V68M)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GBenign
Select item 337997	NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala)	ABHD12 (V68A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337996	NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe)	ABHD12 (I112F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337995	NM_001042472.3(ABHD12):c.453C>T (p.Asn151=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337994	NM_001042472.3(ABHD12):c.543-13T>C	ABHD12	Single nucleotide variant (intron variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 337993	NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp)	ABHD12 (R257W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337992	NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser)	ABHD12 (A268S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337991	NM_001042472.3(ABHD12):c.858A>C (p.Pro286=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337990	NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=)	ABHD12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 337989	NM_001042472.3(ABHD12):c.*45G>C	ABHD12	Single nucleotide variant (intron variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337988	NM_001042472.3(ABHD12):c.*83G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337987	NM_001042472.3(ABHD12):c.*148C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 337986	NM_001042472.3(ABHD12):c.*297C>G	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome +1 more	GBenign
Select item 337985	NM_001042472.3(ABHD12):c.*321G>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GBenign
Select item 337984	NM_001042472.3(ABHD12):c.320_321del	ABHD12	Deletion (intron variant +1 more)	PHARC syndrome	GLikely benign
Select item 337983	NM_001042472.3(ABHD12):c.*353G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337982	NM_001042472.3(ABHD12):c.*377C>T	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337981	NM_001042472.3(ABHD12):c.*414del	ABHD12	Deletion (3 prime UTR variant +1 more)	PHARC syndrome	GUncertain significance
Select item 337980	NM_001042472.3(ABHD12):c.*454G>A	ABHD12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 283186	NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 265985	NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu)	ABHD12 (P324L)	Single nucleotide variant (missense variant)	PHARC syndrome	GLikely pathogenic
Select item 243081	Single allele	ABHD12, LOC130065583 +3 more	Deletion	PHARC syndrome	GPathogenic
Select item 191159	NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter)	ABHD12 (Q397*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 143237	NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro)	ABHD12 (R186P)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GConflicting classifications of pathogenicity
Select item 143236	NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter)	ABHD12 (W159*)	Single nucleotide variant (nonsense)	PHARC syndrome	GPathogenic
Select item 143235	NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln)	ABHD12 (H372Q)	Single nucleotide variant (missense variant)	PHARC syndrome	GPathogenic
Select item 128255	NM_001042472.3(ABHD12):c.837C>T (p.Arg279=)	ABHD12	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 128254	NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=)	ABHD12	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 128253	NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr)	ABHD12 (A349T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 27	NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter)	ABHD12 (R352*)	Single nucleotide variant (nonsense)	PHARC syndrome +1 more	GPathogenic
Select item 26	NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter)	ABHD12 (H285*)	Duplication (nonsense)	PHARC syndrome	GPathogenic
Select item 25	NM_015600.4(ABHD12):c.-6898_191+7002delinsCC	ABHD12, LOC130065583 +3 more	Indel	PHARC syndrome	GPathogenic
Select item 24	NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs)	ABHD12 (D113fs)	Indel (frameshift variant)	not provided	GPathogenic

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Items: 81