FAAH[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 152677	GRCh38/hg38 1p33(chr1:46366996-46483577)x3	FAAH, LINC01398 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2360638	NM_001441.3(FAAH):c.50C>T (p.Ala17Val)	FAAH (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568787	NM_001441.3(FAAH):c.79G>C (p.Val27Leu)	FAAH (V27L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246121	NM_001441.3(FAAH):c.94T>G (p.Ser32Ala)	FAAH (S32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597231	NM_001441.3(FAAH):c.103C>G (p.Arg35Gly)	FAAH (R35G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405787	NM_001441.3(FAAH):c.106A>C (p.Thr36Pro)	FAAH (T36P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470112	NM_001441.3(FAAH):c.328G>A (p.Gly110Arg)	FAAH (G110R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708282	NM_001441.3(FAAH):c.329G>A (p.Gly110Glu)	FAAH (G110E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 6724	NM_001441.3(FAAH):c.385C>A (p.Pro129Thr)	FAAH (P129T)	Single nucleotide variant (missense variant)	FAAH-related condition +1 more	GBenign/Likely benign
Select item 2558442	NM_001441.3(FAAH):c.469A>C (p.Ser157Arg)	FAAH (S157R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044613	NM_001441.3(FAAH):c.489G>A (p.Pro163=)	FAAH	Single nucleotide variant (synonymous variant)	FAAH-related condition	GLikely benign
Select item 2544283	NM_001441.3(FAAH):c.491C>T (p.Ala164Val)	FAAH (A164V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558667	NM_001441.3(FAAH):c.547G>A (p.Val183Met)	FAAH (V183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065619	NM_001441.3(FAAH):c.549del (p.His184fs)	FAAH (H184fs)	Deletion (frameshift variant)	Polysubstance abuse, susceptibility to	GLikely pathogenic
Select item 2209996	NM_001441.3(FAAH):c.622T>C (p.Trp208Arg)	FAAH (W208R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788507	NM_001441.3(FAAH):c.693C>G (p.Pro231=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721205	NM_001441.3(FAAH):c.789G>A (p.Lys263=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2514329	NM_001441.3(FAAH):c.820G>C (p.Glu274Gln)	FAAH (E274Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493006	NM_001441.3(FAAH):c.838G>T (p.Val280Leu)	FAAH (V280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747912	NM_001441.3(FAAH):c.884G>A (p.Arg295Gln)	FAAH (R295Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2237944	NM_001441.3(FAAH):c.892C>A (p.Leu298Met)	FAAH (L298M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767669	NM_001441.3(FAAH):c.897= (p.Cys299=)	FAAH	Variation (no sequence alteration)	not provided	GBenign
Select item 2245906	NM_001441.3(FAAH):c.911G>T (p.Arg304Leu)	FAAH (R304L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 760326	NM_001441.3(FAAH):c.921C>T (p.Pro307=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748989	NM_001441.3(FAAH):c.927G>A (p.Val309=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2285438	NM_001441.3(FAAH):c.958A>T (p.Thr320Ser)	FAAH (T320S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298424	NM_001441.3(FAAH):c.1001A>G (p.Asn334Ser)	FAAH (N334S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721206	NM_001441.3(FAAH):c.1067C>T (p.Ala356Val)	FAAH (A356V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2533608	NM_001441.3(FAAH):c.1237T>C (p.Trp413Arg)	FAAH (W413R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721207	NM_001441.3(FAAH):c.1278G>C (p.Leu426=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721208	NM_001441.3(FAAH):c.1316+3A>G	FAAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 721209	NM_001441.3(FAAH):c.1317T>G (p.Arg439=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756276	NM_001441.3(FAAH):c.1353C>T (p.Ile451=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3057188	NM_001441.3(FAAH):c.1357-5C>T	FAAH	Single nucleotide variant (intron variant)	FAAH-related condition	GBenign
Select item 721210	NM_001441.3(FAAH):c.1427C>G (p.Ala476Gly)	FAAH (A476G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 745307	NM_001441.3(FAAH):c.1431T>C (p.Pro477=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2258692	NM_001441.3(FAAH):c.1480A>C (p.Thr494Pro)	FAAH (T494P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721211	NM_001441.3(FAAH):c.1632G>A (p.Gly544=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545923	NM_001441.3(FAAH):c.1645G>A (p.Val549Met)	FAAH (V549M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729598	NM_001441.3(FAAH):c.1678T>C (p.Leu560=)	FAAH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2226423	NM_001441.3(FAAH):c.1687C>T (p.Arg563Trp)	FAAH (R563W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 814072	GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3	LURAP1, TSPAN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	RAD54L, TSPAN1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance

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Items: 51