54443[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 447

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 1204756	NC_000007.14:g.36389688C>G	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201038	NC_000007.14:g.36389691G>A	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662490	NM_018685.4(ANLN):c.-201G>T	ANLN, MATCAP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3123932	NM_001100425.2(MATCAP2):c.49C>A (p.Arg17Ser)	ANLN, MATCAP2 (R17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1115262	NM_018685.5(ANLN):c.8C>T (p.Pro3Leu)	ANLN, MATCAP2 (P3L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3054444	NM_018685.5(ANLN):c.9G>C (p.Pro3=)	ANLN, MATCAP2 (R14G)	Single nucleotide variant (missense variant +1 more)	ANLN-related disorder	GLikely benign
Select item 1473279	NM_018685.5(ANLN):c.18+3G>A	ANLN, MATCAP2 (H10Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2744621	NM_018685.5(ANLN):c.18+15G>T	ANLN, MATCAP2 (R6S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1221148	NM_018685.5(ANLN):c.19-130C>G	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2759717	NM_018685.5(ANLN):c.24G>A (p.Leu8=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585263	NM_018685.5(ANLN):c.28G>A (p.Glu10Lys)	ANLN (E10K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 599127	NM_018685.5(ANLN):c.31C>T (p.Arg11Ter)	ANLN (R11*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1983535	NM_018685.5(ANLN):c.36C>T (p.Thr12=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936231	NM_018685.5(ANLN):c.37C>T (p.Arg13Cys)	ANLN (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897844	NM_018685.5(ANLN):c.38G>A (p.Arg13His)	ANLN (R13H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3127057	NM_018685.5(ANLN):c.44G>C (p.Arg15Thr)	ANLN (R15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1339108	NM_018685.5(ANLN):c.65A>G (p.Lys22Arg)	ANLN (K22R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 8	GUncertain significance
Select item 3007420	NM_018685.5(ANLN):c.80C>T (p.Pro27Leu)	ANLN (P27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091345	NM_018685.5(ANLN):c.90_91delinsAA (p.Pro31Thr)	ANLN (P31T)	Indel (missense variant)	not provided	GUncertain significance
Select item 1036499	NM_018685.5(ANLN):c.95G>A (p.Arg32Lys)	ANLN (R32K)	Single nucleotide variant (missense variant)	ANLN-related disorder +1 more	GUncertain significance
Select item 1165102	NM_018685.5(ANLN):c.100A>G (p.Met34Val)	ANLN (M34V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 8 +1 more	GBenign/Likely benign
Select item 2715693	NM_018685.5(ANLN):c.116G>A (p.Arg39Gln)	ANLN (R39Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429491	NM_018685.5(ANLN):c.127C>T (p.Pro43Ser)	ANLN (P43S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149506	NM_018685.5(ANLN):c.128C>T (p.Pro43Leu)	ANLN (P43L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1437192	NM_018685.5(ANLN):c.140C>G (p.Ala47Gly)	ANLN (A47G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1166530	NM_018685.5(ANLN):c.143G>A (p.Ser48Asn)	ANLN (S48N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1963775	NM_018685.5(ANLN):c.167G>A (p.Gly56Asp)	ANLN (G56D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990001	NM_018685.5(ANLN):c.172+11T>C	ANLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233273	NM_018685.5(ANLN):c.172+193C>T	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258384	NM_018685.5(ANLN):c.173-214A>G	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612035	NM_018685.5(ANLN):c.173-16A>G	ANLN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1635698	NM_018685.5(ANLN):c.173-14C>T	ANLN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600954	NM_018685.5(ANLN):c.173-13G>A	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2077554	NM_018685.5(ANLN):c.176A>T (p.Lys59Ile)	ANLN (K59I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 829977	NM_018685.5(ANLN):c.191C>G (p.Pro64Arg)	ANLN (P64R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166060	NM_018685.5(ANLN):c.194C>G (p.Ser65Trp)	ANLN (S65W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 8 +1 more	GBenign
Select item 3298621	NM_018685.5(ANLN):c.205A>G (p.Lys69Glu)	ANLN (K69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2880191	NM_018685.5(ANLN):c.224C>T (p.Thr75Ile)	ANLN (T75I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043823	NM_018685.5(ANLN):c.228A>G (p.Glu76=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950968	NM_018685.5(ANLN):c.228A>C (p.Glu76Asp)	ANLN (E76D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560101	NM_018685.5(ANLN):c.229G>A (p.Val77Ile)	ANLN (V77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2983005	NM_018685.5(ANLN):c.230T>A (p.Val77Glu)	ANLN (V77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975734	NM_018685.5(ANLN):c.235G>T (p.Val79Phe)	ANLN (V79F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2481842	NM_018685.5(ANLN):c.257A>C (p.Gln86Pro)	ANLN (Q86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1164588	NM_018685.5(ANLN):c.267G>A (p.Glu89=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2067856	NM_018685.5(ANLN):c.290C>G (p.Ser97Cys)	ANLN (S97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1350108	NM_018685.5(ANLN):c.332_334del (p.Asp111_Thr112delinsAla)	ANLN	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 3000093	NM_018685.5(ANLN):c.336C>A (p.Thr112=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432831	NM_018685.5(ANLN):c.340A>G (p.Ser114Gly)	ANLN (S114G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2285133	NM_018685.5(ANLN):c.358C>T (p.Pro120Ser)	ANLN (P120S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225274	NM_018685.5(ANLN):c.359C>T (p.Pro120Leu)	ANLN (P120L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1548887	NM_018685.5(ANLN):c.367C>T (p.Leu123=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715587	NM_018685.5(ANLN):c.374G>C (p.Gly125Ala)	ANLN (G125A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1506992	NM_018685.5(ANLN):c.389T>C (p.Leu130Pro)	ANLN (L130P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1132664	NM_018685.5(ANLN):c.400T>C (p.Leu134=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667278	NM_018685.5(ANLN):c.411T>G (p.Thr137=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064571	NM_018685.5(ANLN):c.420C>T (p.Ser140=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761731	NM_018685.5(ANLN):c.434G>C (p.Arg145Pro)	ANLN (R145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165103	NM_018685.5(ANLN):c.434G>A (p.Arg145His)	ANLN (R145H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1964058	NM_018685.5(ANLN):c.437T>C (p.Met146Thr)	ANLN (M146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347865	NM_018685.5(ANLN):c.444A>C (p.Lys148Asn)	ANLN (K148N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885011	NM_018685.5(ANLN):c.448G>T (p.Ala150Ser)	ANLN (A150S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363438	NM_018685.5(ANLN):c.451G>A (p.Glu151Lys)	ANLN (E151K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190267	NM_018685.5(ANLN):c.453G>C (p.Glu151Asp)	ANLN (E151D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2045399	NM_018685.5(ANLN):c.464G>A (p.Arg155His)	ANLN (R155H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062144	NM_018685.5(ANLN):c.472A>G (p.Asn158Asp)	ANLN (N158D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1922805	NM_018685.5(ANLN):c.473A>C (p.Asn158Thr)	ANLN (N158T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813381	NM_018685.5(ANLN):c.481A>G (p.Met161Val)	ANLN (M161V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232725	NM_018685.5(ANLN):c.488-201T>A	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241201	NM_018685.5(ANLN):c.488-171A>G	ANLN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974812	NM_018685.5(ANLN):c.488-18_488-17del	ANLN	Deletion (intron variant)	not provided	GLikely benign
Select item 1899371	NM_018685.5(ANLN):c.508C>T (p.Leu170Phe)	ANLN (L170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515763	NM_018685.5(ANLN):c.523C>A (p.Pro175Thr)	ANLN (P175T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 635470	NM_018685.5(ANLN):c.524C>T (p.Pro175Leu)	ANLN (P175L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961354	NM_018685.5(ANLN):c.548C>T (p.Pro183Leu)	ANLN (P183L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785409	NM_018685.5(ANLN):c.553_555delinsCAG (p.Arg185Gln)	ANLN (R185Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 1932232	NM_018685.5(ANLN):c.553_554delinsGA (p.Arg185Glu)	ANLN (R185E)	Indel (missense variant)	not provided	GUncertain significance
Select item 1166472	NM_018685.5(ANLN):c.553_554delinsCA (p.Arg185Gln)	ANLN (R185Q)	Indel (missense variant)	not provided	GBenign
Select item 261050	NM_018685.5(ANLN):c.553A>C (p.Arg185=)	ANLN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261051	NM_018685.5(ANLN):c.554G>A (p.Arg185Lys)	ANLN (R185K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 915855	NM_018685.5(ANLN):c.575C>G (p.Ser192Trp)	ANLN (S192W)	Single nucleotide variant (missense variant)	Chronic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 1899193	NM_018685.5(ANLN):c.576G>A (p.Ser192=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511394	NM_018685.5(ANLN):c.580A>G (p.Thr194Ala)	ANLN (T194A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1572693	NM_018685.5(ANLN):c.598G>A (p.Gly200Ser)	ANLN (G200S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1355606	NM_018685.5(ANLN):c.601C>T (p.Arg201Cys)	ANLN (R201C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054266	NM_018685.5(ANLN):c.625A>G (p.Ile209Val)	ANLN (I209V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2535377	NM_018685.5(ANLN):c.641A>G (p.Asp214Gly)	ANLN (D214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2074492	NM_018685.5(ANLN):c.643G>A (p.Asp215Asn)	ANLN (D215N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1474187	NM_018685.5(ANLN):c.662C>T (p.Ala221Val)	ANLN (A221V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402625	NM_018685.5(ANLN):c.680A>C (p.Gln227Pro)	ANLN (Q227P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328045	NM_018685.5(ANLN):c.688C>T (p.Pro230Ser)	ANLN (P230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005923	NM_018685.5(ANLN):c.736G>A (p.Ala246Thr)	ANLN (A246T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3298620	NM_018685.5(ANLN):c.740G>A (p.Arg247Lys)	ANLN (R247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2824137	NM_018685.5(ANLN):c.747T>C (p.Asn249=)	ANLN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 5