Related gene-specific medical variations for Gene (Select 158584) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169122	NM_019003.5(SPIN2A):c.521T>C (p.Met174Thr)	FAAH2, SPIN2A (M174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169121	NM_019003.5(SPIN2A):c.509C>A (p.Pro170His)	FAAH2, SPIN2A (P170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169120	NM_019003.5(SPIN2A):c.463G>C (p.Ala155Pro)	FAAH2, SPIN2A (A155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660713	NM_019003.5(SPIN2A):c.210A>C (p.Gly70=)	FAAH2, SPIN2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2557457	NM_019003.5(SPIN2A):c.605C>G (p.Pro202Arg)	FAAH2, SPIN2A (P202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553552	NM_019003.5(SPIN2A):c.233T>C (p.Ile78Thr)	FAAH2, SPIN2A (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472549	NM_019003.5(SPIN2A):c.141G>T (p.Arg47Ser)	FAAH2, SPIN2A (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458920	NM_019003.5(SPIN2A):c.204G>T (p.Trp68Cys)	FAAH2, SPIN2A (W68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394057	NM_019003.5(SPIN2A):c.119G>A (p.Arg40Gln)	FAAH2, SPIN2A (R40Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381738	NM_019003.5(SPIN2A):c.629T>C (p.Ile210Thr)	FAAH2, SPIN2A (I210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360914	NM_019003.5(SPIN2A):c.700A>G (p.Thr234Ala)	FAAH2, SPIN2A (T234A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2351400	NM_019003.5(SPIN2A):c.338G>C (p.Arg113Thr)	FAAH2, SPIN2A (R113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333881	NM_019003.5(SPIN2A):c.113G>A (p.Arg38Lys)	FAAH2, SPIN2A (R38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329580	NM_019003.5(SPIN2A):c.757G>C (p.Asp253His)	FAAH2, SPIN2A (D253H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299008	NM_019003.5(SPIN2A):c.697G>A (p.Glu233Lys)	FAAH2, SPIN2A (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273338	NM_019003.5(SPIN2A):c.683T>C (p.Val228Ala)	FAAH2, SPIN2A (V228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240851	NM_019003.5(SPIN2A):c.389G>A (p.Gly130Asp)	FAAH2, SPIN2A (G130D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341098	GRCh37/hg19 Xp11.21(chrX:57328355-57543473)x2	FAAH2	Copy number gain	not provided	GUncertain significance
Select item 1252027	NM_174912.4(FAAH2):c.1175G>A (p.Trp392Ter)	FAAH2 (W322* +2 more)	Single nucleotide variant (nonsense +1 more)	Meckel-like syndrome	GPathogenic
Select item 1206044	NM_019003.5(SPIN2A):c.551G>A (p.Gly184Asp)	FAAH2, SPIN2A (G184D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977452	NM_174912.4(FAAH2):c.623-1358_742+4935del	FAAH2	Deletion (splice acceptor variant +1 more)	Intellectual disability +1 more	GUncertain significance
Select item 547083	NM_174912.4(FAAH2):c.240C>T (p.Asp80=)	FAAH2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522688	NM_174912.4(FAAH2):c.267_275+2del	FAAH2	Deletion (splice donor variant)	not provided	GPathogenic
Select item 493528	NM_174912.4(FAAH2):c.1024G>A (p.Gly342Arg)	FAAH2 (G342R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 441686	GRCh37/hg19 Xp11.21(chrX:57437093-57478428)x1	FAAH2	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 25