ATRN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
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 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 2105078	NM_139321.3(ATRN):c.38GGA[2] (p.Arg15del)	ATRN, LOC130065331 (R15del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
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 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 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 2057356	NM_139321.3(ATRN):c.60A>C (p.Ala20=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 1167763	NM_139321.3(ATRN):c.154C>T (p.Leu52=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 1625594	NM_139321.3(ATRN):c.196T>C (p.Leu66=)	ATRN, LOC130065331	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 2887938	NM_139321.3(ATRN):c.215TGC[8] (p.Leu77_Pro78insLeuLeu)	ATRN, LOC130065331	Microsatellite (inframe_insertion +1 more)	not provided	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 3332491	NM_139321.3(ATRN):c.215T>C (p.Leu72Pro)	ATRN, LOC130065331 (L72P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 2056081	NM_139321.3(ATRN):c.251CGG[7] (p.Ala89_Val90insAla)	ATRN, LOC130065331	Microsatellite (inframe_insertion +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 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 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 1166362	NM_139321.3(ATRN):c.287C>T (p.Ala96Val)	ATRN, LOC130065331 (A96V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 2986292	NM_139321.3(ATRN):c.348C>T (p.Gly116=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1584121	NM_139321.3(ATRN):c.378C>T (p.Gly126=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631059	NM_139321.3(ATRN):c.379G>T (p.Glu127Ter)	ATRN (E127*)	Single nucleotide variant (nonsense +1 more)	ATRN-related disorder	GUncertain significance
Select item 2290419	NM_139321.3(ATRN):c.379G>C (p.Glu127Gln)	ATRN (E127Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2723475	NM_139321.3(ATRN):c.384A>G (p.Gln128=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3132142	NM_139321.3(ATRN):c.386G>A (p.Cys129Tyr)	ATRN (C129Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571640	NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)	ATRN (C132W)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +2 more	GUncertain significance
Select item 2158159	NM_139321.3(ATRN):c.396C>T (p.Cys132=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2160826	NM_139321.3(ATRN):c.399G>A (p.Gly133=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3052390	NM_139321.3(ATRN):c.402C>T (p.Gly134=)	ATRN	Single nucleotide variant (synonymous variant +1 more)	ATRN-related disorder	GLikely benign
Select item 1462021	NM_139321.3(ATRN):c.408C>A (p.Phe136Leu)	ATRN (F136L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906047	NM_139321.3(ATRN):c.410+19C>T	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 1170767	NM_139321.3(ATRN):c.435G>A (p.Val145=)	ATRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1165619	NM_139321.3(ATRN):c.462C>T (p.Tyr154=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder +1 more	GBenign
Select item 3035309	NM_139321.3(ATRN):c.468G>A (p.Thr156=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder	GLikely benign
Select item 2319309	NM_139321.3(ATRN):c.476C>T (p.Thr159Met)	ATRN (T159M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3019577	NM_139321.3(ATRN):c.477G>A (p.Thr159=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629116	NM_139321.3(ATRN):c.491G>T (p.Gly164Val)	ATRN (G164V +1 more)	Single nucleotide variant (missense variant)	ATRN-related disorder +1 more	GUncertain significance
Select item 1147884	NM_139321.3(ATRN):c.494A>T (p.Gln165Leu)	ATRN (Q165L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1662602	NM_139321.3(ATRN):c.495-8C>A	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1612535	NM_139321.3(ATRN):c.495-4T>C	ATRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2212399	NM_139321.3(ATRN):c.497C>G (p.Pro166Arg)	ATRN (P166R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1507672	NM_139321.3(ATRN):c.497C>A (p.Pro166Gln)	ATRN (P50Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265205	NM_139321.3(ATRN):c.518G>A (p.Arg173His)	ATRN (R173H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1564925	NM_139321.3(ATRN):c.537A>C (p.Thr179=)	ATRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382891	NM_139321.3(ATRN):c.568G>A (p.Asp190Asn)	ATRN (D190N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187259	NM_139321.3(ATRN):c.570T>G (p.Asp190Glu)	ATRN (D190E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200007	NM_139321.3(ATRN):c.580A>G (p.Ile194Val)	ATRN (I78V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1638954	NM_139321.3(ATRN):c.615C>T (p.Leu205=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder +1 more	GLikely benign
Select item 2338337	NM_139321.3(ATRN):c.638A>G (p.Asn213Ser)	ATRN (N213S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2482690	NM_139321.3(ATRN):c.641A>G (p.Glu214Gly)	ATRN (E214G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2044153	NM_139321.3(ATRN):c.643A>G (p.Thr215Ala)	ATRN (T99A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185887	NM_139321.3(ATRN):c.659T>C (p.Val220Ala)	ATRN (V104A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3332554	NM_139321.3(ATRN):c.674A>G (p.Tyr225Cys)	ATRN (Y225C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2041371	NM_139321.3(ATRN):c.726T>C (p.Asn242=)	ATRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3132147	NM_139321.3(ATRN):c.731C>T (p.Thr244Ile)	ATRN (T128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3018537	NM_139321.3(ATRN):c.737+5G>C	ATRN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2102723	NM_139321.3(ATRN):c.738-11del	ATRN	Deletion (intron variant)	not provided	GLikely benign
Select item 3132148	NM_139321.3(ATRN):c.755A>G (p.Asn252Ser)	ATRN (N252S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1957241	NM_139321.3(ATRN):c.781A>C (p.Lys261Gln)	ATRN (K261Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3132149	NM_139321.3(ATRN):c.787A>C (p.Ser263Arg)	ATRN (S147R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053188	NM_139321.3(ATRN):c.798C>T (p.Ser266=)	ATRN	Single nucleotide variant (synonymous variant)	ATRN-related disorder	GLikely benign
Select item 769069	NM_139321.3(ATRN):c.803C>G (p.Thr268Ser)	ATRN (T152S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2011667	NM_139321.3(ATRN):c.805G>A (p.Val269Ile)	ATRN (V269I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2519431	NM_139321.3(ATRN):c.814G>A (p.Glu272Lys)	ATRN (E272K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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