Related gene-specific medical variations for Gene (Select 8455) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132150	NM_139321.3(ATRN):c.82G>T (p.Gly28Trp)	ATRN, LOC130065331 (G28W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047881	NM_139321.3(ATRN):c.177A>C (p.Pro59=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	ATRN-related disorder	GLikely benign
Select item 3041871	NM_139321.3(ATRN):c.-44T>G	ATRN, LOC130065331	Single nucleotide variant (5 prime UTR variant)	ATRN-related disorder	GLikely benign
Select item 3008462	NM_139321.3(ATRN):c.246G>A (p.Glu82=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006671	NM_139321.3(ATRN):c.45G>A (p.Arg15=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887938	NM_139321.3(ATRN):c.215TGC[8] (p.Leu77_Pro78insLeuLeu)	ATRN, LOC130065331	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2621772	NM_139321.3(ATRN):c.14C>T (p.Ala5Val)	ATRN, LOC130065331 (R17W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554658	NM_139321.3(ATRN):c.145C>T (p.Leu49Phe)	ATRN, LOC130065331 (L49F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535712	NM_139321.3(ATRN):c.97T>C (p.Trp33Arg)	ATRN, LOC130065331 (W33R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2420981	NM_139321.3(ATRN):c.135C>G (p.Ala45=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2336065	NM_139321.3(ATRN):c.247G>A (p.Ala83Thr)	ATRN, LOC130065331 (A83T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251665	NM_139321.3(ATRN):c.293C>G (p.Ala98Gly)	ATRN, LOC130065331 (A98G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238522	NM_139321.3(ATRN):c.68C>G (p.Ala23Gly)	ATRN, LOC130065331 (A23G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2180326	NM_139321.3(ATRN):c.215TGC[7] (p.Leu77_Pro78insLeu)	ATRN, LOC130065331	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2168881	NM_139321.3(ATRN):c.54G>C (p.Ala18=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2149795	NM_139321.3(ATRN):c.293C>T (p.Ala98Val)	ATRN, LOC130065331 (A98V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2105078	NM_139321.3(ATRN):c.38GGA[2] (p.Arg15del)	ATRN, LOC130065331 (R15del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2103723	NM_139321.3(ATRN):c.68C>T (p.Ala23Val)	ATRN, LOC130065331 (A23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076029	NM_139321.3(ATRN):c.260C>T (p.Ala87Val)	ATRN, LOC130065331 (A87V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2057356	NM_139321.3(ATRN):c.60A>C (p.Ala20=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2056081	NM_139321.3(ATRN):c.251CGG[7] (p.Ala89_Val90insAla)	ATRN, LOC130065331	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2018653	NM_139321.3(ATRN):c.226C>T (p.Leu76=)	LOC130065331, ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1992727	NM_139321.3(ATRN):c.93G>C (p.Trp31Cys)	ATRN, LOC130065331 (W31C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982827	NM_139321.3(ATRN):c.186G>A (p.Leu62=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1959615	NM_139321.3(ATRN):c.290A>G (p.Glu97Gly)	ATRN, LOC130065331 (E97G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1938491	NM_139321.3(ATRN):c.206C>G (p.Ser69Trp)	ATRN, LOC130065331 (S69W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936191	NM_139321.3(ATRN):c.137G>A (p.Gly46Glu)	ATRN, LOC130065331 (G46E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1934192	NM_139321.3(ATRN):c.204C>G (p.Leu68=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919379	NM_139321.3(ATRN):c.53C>T (p.Ala18Val)	ATRN, LOC130065331 (A18V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664699	NM_139321.3(ATRN):c.63G>A (p.Ala21=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	ATRN-related disorder +1 more	GLikely benign
Select item 1625594	NM_139321.3(ATRN):c.196T>C (p.Leu66=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1613257	NM_139321.3(ATRN):c.279A>T (p.Ser93=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569384	NM_139321.3(ATRN):c.264G>A (p.Ala88=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1510697	NM_139321.3(ATRN):c.81C>T (p.Gly27=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1438562	NM_139321.3(ATRN):c.176C>A (p.Pro59Gln)	ATRN, LOC130065331 (P59Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1167763	NM_139321.3(ATRN):c.154C>T (p.Leu52=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1166362	NM_139321.3(ATRN):c.287C>T (p.Ala96Val)	ATRN, LOC130065331 (A96V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 37