57697[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 2437

<< First< Prev

Page of 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 1210699	NC_000014.9:g.45135819G>T	FANCM	Single nucleotide variant	not provided	GLikely benign
Select item 644272	NC_000014.8:g.(?_45605225)_(45609922_?)dup	FANCM, LOC130055524	Duplication	Fanconi anemia	GUncertain significance
Select item 1201547	NM_020937.4(FANCM):c.-5G>A	FANCM	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1428360	NM_020937.4(FANCM):c.1A>G (p.Met1Val)	FANCM (M1V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 795297	NM_020937.4(FANCM):c.6C>T (p.Ser2=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1121251	NM_020937.4(FANCM):c.9A>G (p.Gly3=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 572178	NM_020937.4(FANCM):c.11G>A (p.Arg4Gln)	FANCM (R4Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1984242	NM_020937.4(FANCM):c.14A>G (p.Gln5Arg)	FANCM (Q5R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1080180	NM_020937.4(FANCM):c.15A>G (p.Gln5=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1496485	NM_020937.4(FANCM):c.17G>T (p.Arg6Ile)	FANCM (R6I)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2982154	NM_020937.4(FANCM):c.23T>A (p.Leu8His)	FANCM (L8H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2574346	NM_020937.4(FANCM):c.26T>G (p.Phe9Cys)	FANCM (F9C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 456263	NM_020937.4(FANCM):c.30G>A (p.Gln10=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 3366183	NM_020937.4(FANCM):c.31A>T (p.Thr11Ser)	FANCM (T11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337953	NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)	FANCM (W12C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2916672	NM_020937.4(FANCM):c.46A>G (p.Ile16Val)	FANCM (I16V)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1543096	NM_020937.4(FANCM):c.51C>T (p.Ser17=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1907529	NM_020937.4(FANCM):c.52C>T (p.Arg18Ter)	FANCM (R18*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 456276	NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)	FANCM, LOC130055524 (R18Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 1665683	NM_020937.4(FANCM):c.54A>G (p.Arg18=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 841002	NM_020937.4(FANCM):c.56C>T (p.Ser19Leu)	FANCM, LOC130055524 (S19L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 526376	NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)	FANCM, LOC130055524 (S20C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1078056	NM_020937.4(FANCM):c.63G>C (p.Gly21=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1311682	NM_020937.4(FANCM):c.68C>A (p.Pro23Gln)	FANCM, LOC130055524 (P23Q)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 2836784	NM_020937.4(FANCM):c.69G>C (p.Pro23=)	LOC130055524, FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2140465	NM_020937.4(FANCM):c.70G>C (p.Gly24Arg)	FANCM, LOC130055524 (G24R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 861897	NM_020937.4(FANCM):c.71G>T (p.Gly24Val)	FANCM, LOC130055524 (G24V)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1528260	NM_020937.4(FANCM):c.75C>T (p.Cys25=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2198224	NM_020937.4(FANCM):c.78C>T (p.Ser26=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1415928	NM_020937.4(FANCM):c.81del (p.Gly28fs)	FANCM, LOC130055524 (G28fs)	Deletion (frameshift variant)	Fanconi anemia	GPathogenic
Select item 1005824	NM_020937.4(FANCM):c.80C>T (p.Ser27Phe)	FANCM, LOC130055524 (S27F)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1122592	NM_020937.4(FANCM):c.81C>T (p.Ser27=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 841311	NM_020937.4(FANCM):c.83G>T (p.Gly28Val)	FANCM, LOC130055524 (G28V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 456281	NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)	FANCM, LOC130055524 (E30Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2501875	NM_020937.4(FANCM):c.92G>T (p.Arg31Leu)	FANCM, LOC130055524 (R31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702243	NM_020937.4(FANCM):c.93A>G (p.Arg31=)	FANCM, LOC130055524	Single nucleotide variant (synonymous variant)	Fanconi anemia +2 more	GLikely benign
Select item 1972142	NM_020937.4(FANCM):c.95C>T (p.Pro32Leu)	FANCM, LOC130055524 (P32L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2754139	NM_020937.4(FANCM):c.98A>C (p.Gln33Pro)	FANCM, LOC130055524 (Q33P)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1314180	NM_020937.4(FANCM):c.100_117del (p.Ser34_Lys39del)	LOC130055524, FANCM	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 659099	NM_020937.4(FANCM):c.98A>G (p.Gln33Arg)	FANCM, LOC130055524 (Q33R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1319690	NM_020937.4(FANCM):c.103C>T (p.Pro35Ser)	FANCM (P35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312638	NM_020937.4(FANCM):c.104C>G (p.Pro35Arg)	FANCM (P35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1607505	NM_020937.4(FANCM):c.105T>C (p.Pro35=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 2637171	NM_020937.4(FANCM):c.107del (p.Gly36fs)	FANCM (G36fs)	Deletion (frameshift variant)	FANCM-related disorder	GLikely pathogenic
Select item 1015527	NM_020937.4(FANCM):c.106G>A (p.Gly36Ser)	FANCM (G36S)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1406292	NM_020937.4(FANCM):c.108C>T (p.Gly36=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GUncertain significance
Select item 702908	NM_020937.4(FANCM):c.108C>A (p.Gly36=)	FANCM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528799	NM_020937.4(FANCM):c.111C>T (p.Ser37=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1102616	NM_020937.4(FANCM):c.114C>T (p.Ser38=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 704180	NM_020937.4(FANCM):c.114C>G (p.Ser38=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1338161	NM_020937.4(FANCM):c.117G>A (p.Lys39=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1205354	NM_020937.4(FANCM):c.119C>G (p.Ala40Gly)	FANCM (A40G)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1151506	NM_020937.4(FANCM):c.120G>T (p.Ala40=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2118201	NM_020937.4(FANCM):c.121C>A (p.Pro41Thr)	FANCM (P41T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 639708	NM_020937.4(FANCM):c.122C>T (p.Pro41Leu)	FANCM (P41L)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 935865	NM_020937.4(FANCM):c.124T>A (p.Leu42Met)	FANCM (L42M)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1127395	NM_020937.4(FANCM):c.126G>A (p.Leu42=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2580721	NM_020937.4(FANCM):c.136G>T (p.Ala46Ser)	FANCM (A46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126672	NM_020937.4(FANCM):c.136G>A (p.Ala46Thr)	FANCM (A46T)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 843080	NM_020937.4(FANCM):c.140A>G (p.Glu47Gly)	FANCM (E47G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 764497	NM_020937.4(FANCM):c.147G>A (p.Gln49=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2441354	NM_020937.4(FANCM):c.153G>A (p.Glu51=)	FANCM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2200422	NM_020937.4(FANCM):c.157G>A (p.Asp53Asn)	FANCM (D53N)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 698687	NM_020937.4(FANCM):c.159C>T (p.Asp53=)	FANCM	Single nucleotide variant (synonymous variant)	Spermatogenic failure 28 +3 more	GLikely benign
Select item 2748982	NM_020937.4(FANCM):c.160G>C (p.Asp54His)	FANCM (D54H)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1372596	NM_020937.4(FANCM):c.161ATG[1] (p.Asp55del)	FANCM (D55del)	Microsatellite (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 656862	NM_020937.4(FANCM):c.163G>A (p.Asp55Asn)	FANCM (D55N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1477991	NM_020937.4(FANCM):c.164A>T (p.Asp55Val)	FANCM (D55V)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 313188	NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)	FANCM (L57F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 456255	NM_020937.4(FANCM):c.172C>T (p.Leu58Phe)	FANCM (L58F)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 830243	NM_020937.4(FANCM):c.173T>G (p.Leu58Arg)	FANCM (L58R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1338061	NM_020937.4(FANCM):c.174T>G (p.Leu58=)	FANCM	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1107744	NM_020937.4(FANCM):c.177C>T (p.Val59=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 841743	NM_020937.4(FANCM):c.179C>T (p.Ala60Val)	FANCM (A60V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 456256	NM_020937.4(FANCM):c.179C>A (p.Ala60Glu)	FANCM (A60E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2156730	NM_020937.4(FANCM):c.180G>A (p.Ala60=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3001206	NM_020937.4(FANCM):c.182C>G (p.Ala61Gly)	FANCM (A61G)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2987686	NM_020937.4(FANCM):c.183G>A (p.Ala61=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1472956	NM_020937.4(FANCM):c.184T>C (p.Tyr62His)	FANCM (Y62H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957435	NM_020937.4(FANCM):c.187G>A (p.Glu63Lys)	FANCM (E63K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 947739	NM_020937.4(FANCM):c.189G>T (p.Glu63Asp)	FANCM (E63D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1519483	NM_020937.4(FANCM):c.190G>T (p.Ala64Ser)	FANCM (A64S)	Single nucleotide variant (missense variant)	Spermatogenic failure 28 +2 more	GUncertain significance
Select item 1083472	NM_020937.4(FANCM):c.195G>A (p.Glu65=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 3364318	NM_020937.4(FANCM):c.197G>A (p.Arg66Gln)	FANCM (R66Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969503	NM_020937.4(FANCM):c.201G>T (p.Gln67His)	FANCM (Q67H)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 2037248	NM_020937.4(FANCM):c.202T>C (p.Leu68=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 1314917	NM_020937.4(FANCM):c.204G>A (p.Leu68=)	FANCM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2969545	NM_020937.4(FANCM):c.214A>G (p.Asn72Asp)	FANCM (N72D)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 1691893	NM_020937.4(FANCM):c.215A>G (p.Asn72Ser)	FANCM (N72S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1981068	NM_020937.4(FANCM):c.219C>G (p.Gly73=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 414852	NM_020937.4(FANCM):c.219C>A (p.Gly73=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 566854	NM_020937.4(FANCM):c.220G>A (p.Gly74Arg)	FANCM (G74R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 959353	NM_020937.4(FANCM):c.221G>C (p.Gly74Ala)	FANCM (G74A)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2722748	NM_020937.4(FANCM):c.226T>C (p.Cys76Arg)	FANCM (C76R)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2888134	NM_020937.4(FANCM):c.228C>T (p.Cys76=)	FANCM	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign

<< First< Prev

Page of 25