NF1 Asp1710*fs*1 - ClinVar - NCBI

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The following term was not found in ClinVar: Asp1710*fs*1.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 90727	NM_000251.3(MSH2):c.1662-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 1764	NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	MSH2 (A636P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 2502858	NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)	MSH6 (D365* +8 more)	Duplication (nonsense +2 more)	Lynch syndrome 1	GLikely pathogenic
Select item 428337	NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)	MSH6 (R1076G +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +2 more	GConflicting classifications of pathogenicity
Select item 89379	NM_000179.3(MSH6):c.3386_3388del (p.Cys1129_Val1130delinsLeu)	MSH6	Deletion (inframe_indel)	Mismatch repair cancer syndrome 3	GPathogenic
Select item 1043595	NM_002971.6(SATB1):c.1574A>G (p.Gln525Arg)	SATB1 (Q525R +1 more)	Single nucleotide variant (missense variant)	Kohlschutter-Tonz syndrome-like	GLikely pathogenic
Select item 17088	NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)	MLH1 (G67W)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GPathogenic
Select item 17087	NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)	MLH1 (R226* +2 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 17097	NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)	MLH1 (P648S +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 6013	NM_003924.4(PHOX2B):c.676del (p.Ala226fs)	PHOX2B (A226fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 561692	NM_002890.3(RASA1):c.669G>C (p.Gln223His)	CCNH, RASA1 (Q223H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502369	NM_001470.4(GABBR1):c.1042G>C (p.Ala348Pro)	GABBR1 (A171P +3 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 9237	NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	PMS2 (R802* +9 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 142765	NM_000535.7(PMS2):c.2117del (p.Lys706fs)	PMS2 (K519fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic
Select item 135067	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2 (R563* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic
Select item 772125	NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)	TWIST1	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 477609	NM_014391.3(ANKRD1):c.460C>T (p.Arg154Trp)	ANKRD1 (R154W)	Single nucleotide variant (missense variant)	ANKRD1-related dilated cardiomyopathy +1 more	GUncertain significance
Select item 40090	NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)	PAX6 (R38W +2 more)	Single nucleotide variant (missense variant +3 more)	Aniridia 1 +1 more	GPathogenic
Select item 181982	NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)	C11orf65, ATM (R2459G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 45199	NM_005188.4(CBL):c.1228-10dup	CBL	Duplication	Noonan-like syndrome +2 more	GBenign/Likely benign
Select item 133808	NM_005188.4(CBL):c.2125C>T (p.Arg709Trp)	CBL (R709W)	Single nucleotide variant (missense variant)	CBL-related disorder +2 more	GUncertain significance
Select item 1693471	NM_139137.4(KCNC2):c.499G>T (p.Asp167Tyr)	KCNC2	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 103	GPathogenic
Select item 13349	NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	PTPN11 (T2I)	Single nucleotide variant (missense variant)	RASopathy +7 more	GPathogenic/Likely pathogenic
Select item 591599	NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu)	PTPN11 (P454L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 40546	NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	PTPN11 (A461S +2 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic
Select item 13345	NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	PTPN11 (Q510R +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 40570	NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)	PTPN11 (T553M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 38027	NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys)	BRCA2 (S2072C)	Single nucleotide variant (missense variant)	BRCA2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 157517	NM_182476.3(COQ6):c.622G>C (p.Asp208His)	COQ6, ENTPD5 (D208H +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 315724	NM_152594.3(SPRED1):c.-309C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 631554	NM_152594.3(SPRED1):c.-294CT[2]	SPRED1	Microsatellite (5 prime UTR variant)	RASopathy	GLikely benign
Select item 315725	NM_152594.3(SPRED1):c.-294C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315726	NM_152594.3(SPRED1):c.-244T>C	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GBenign
Select item 315727	NM_152594.3(SPRED1):c.-201G>A	LOC130056788, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315728	NM_152594.3(SPRED1):c.-191C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GLikely benign
Select item 886069	NM_152594.3(SPRED1):c.-175G>T	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315729	NM_152594.3(SPRED1):c.-156del	LOC130056789, SPRED1	Deletion (5 prime UTR variant)	Legius syndrome	GLikely benign
Select item 315730	NM_152594.3(SPRED1):c.-152C>A	LOC130056789, SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 886070	NM_152594.3(SPRED1):c.-114G>A	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 315731	NM_152594.3(SPRED1):c.-93C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome +1 more	GBenign
Select item 315732	NM_152594.3(SPRED1):c.-87C>T	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 887069	NM_152594.3(SPRED1):c.-24A>G	SPRED1	Single nucleotide variant (5 prime UTR variant)	Legius syndrome	GUncertain significance
Select item 583432	NC_000015.10:g.(?_38253166)_(39021201_?)del	FAM98B, LINC02694 +24 more	Deletion	Legius syndrome	GPathogenic
Select item 584323	NC_000015.10:g.(?_38253180)_(38351670_?)del	LOC129390685, SPRED1	Deletion	Legius syndrome	GPathogenic
Select item 930640	NM_152594.3(SPRED1):c.1A>G (p.Met1Val)	SPRED1 (M1V)	Single nucleotide variant (missense variant +1 more)	Legius syndrome	GPathogenic/Likely pathogenic
Select item 547788	NM_152594.3(SPRED1):c.1_2del (p.Met1fs)	SPRED1 (M1fs)	Deletion (frameshift variant +1 more)	Legius syndrome	GLikely pathogenic
Select item 854050	NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)	SPRED1 (M1I)	Single nucleotide variant (missense variant +1 more)	Legius syndrome	GPathogenic
Select item 965391	NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)	SPRED1 (S2R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 547789	NM_152594.3(SPRED1):c.7_20del (p.Glu3fs)	SPRED1 (E3fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 1122281	NM_152594.3(SPRED1):c.9G>A (p.Glu3=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 1092673	NM_152594.3(SPRED1):c.15G>C (p.Thr5=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1417521	NM_152594.3(SPRED1):c.17C>G (p.Ala6Gly)	SPRED1 (A6G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2997217	NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile)	SPRED1 (T7I)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2059176	NM_152594.3(SPRED1):c.21T>A (p.Thr7=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 547790	NM_152594.3(SPRED1):c.24del (p.Asp9fs)	SPRED1 (D9fs)	Deletion (frameshift variant)	Legius syndrome	GLikely pathogenic
Select item 2828445	NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn)	SPRED1 (D9N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 47967	NM_152594.3(SPRED1):c.26A>T (p.Asp9Val)	SPRED1 (D9V)	Single nucleotide variant (missense variant)	SPRED1-related condition +5 more	GBenign/Likely benign
Select item 179219	NM_152594.3(SPRED1):c.27C>T (p.Asp9=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +1 more	GLikely benign
Select item 1978868	NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)	SPRED1 (N10D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 970869	NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser)	SPRED1 (N10S)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 415718	NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys)	SPRED1 (N10K)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 966373	NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn)	SPRED1 (D11N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1341771	NM_152594.3(SPRED1):c.32A>T (p.Asp11Val)	SPRED1 (D11V)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2914367	NM_152594.3(SPRED1):c.32+3_32+6dup	SPRED1	Duplication (intron variant)	Legius syndrome	GLikely benign
Select item 1510307	NM_152594.3(SPRED1):c.32+2T>G	SPRED1	Single nucleotide variant (splice donor variant)	Legius syndrome	GLikely pathogenic
Select item 1038674	NM_152594.3(SPRED1):c.32+3A>T	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GUncertain significance
Select item 3014255	NM_152594.3(SPRED1):c.32+9C>T	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 1957433	NM_152594.3(SPRED1):c.32+12A>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 1609820	NM_152594.3(SPRED1):c.32+14T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2702911	NM_152594.3(SPRED1):c.32+18C>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 2176947	NM_152594.3(SPRED1):c.32+18C>T	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 984457	NM_152594.3(SPRED1):c.32+20C>T	SPRED1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3022147	NM_152594.3(SPRED1):c.33-14T>C	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 511367	NM_152594.3(SPRED1):c.33-11A>G	SPRED1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 415720	NM_152594.3(SPRED1):c.33-7A>G	SPRED1	Single nucleotide variant (intron variant)	Legius syndrome	GLikely benign
Select item 1298611	NM_152594.3(SPRED1):c.33-1G>A	SPRED1	Single nucleotide variant (splice acceptor variant)	Legius syndrome +1 more	GLikely pathogenic
Select item 417474	NC_000015.10:g.(?_38299373)_(38357249_?)del	SPRED1	Deletion	Legius syndrome	GPathogenic
Select item 1638223	NM_152594.3(SPRED1):c.39T>C (p.Ser13=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 1386579	NM_152594.3(SPRED1):c.40del (p.Tyr14fs)	SPRED1 (Y14fs)	Deletion (frameshift variant)	Legius syndrome	GPathogenic
Select item 2825380	NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)	SPRED1 (Y14*)	Single nucleotide variant (nonsense)	Legius syndrome	GPathogenic
Select item 1177280	NM_152594.3(SPRED1):c.42T>C (p.Tyr14=)	SPRED1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2139826	NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly)	SPRED1 (R16G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 372718	NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter)	SPRED1 (R16*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2189483	NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu)	SPRED1 (R16L)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 981594	NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)	SPRED1 (R16Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 954199	NM_152594.3(SPRED1):c.49G>A (p.Val17Met)	SPRED1 (V17M)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1675562	NM_152594.3(SPRED1):c.50T>C (p.Val17Ala)	SPRED1 (V17A)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 220213	NM_152594.3(SPRED1):c.51G>A (p.Val17=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 2146310	NM_152594.3(SPRED1):c.52C>A (p.Arg18=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 536693	NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)	SPRED1 (R18*)	Single nucleotide variant (nonsense)	Legius syndrome +1 more	GPathogenic
Select item 2737958	NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu)	SPRED1 (R18L)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1400358	NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly)	SPRED1 (A19G)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 1375503	NM_152594.3(SPRED1):c.58G>C (p.Val20Leu)	SPRED1 (V20L)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 2141687	NM_152594.3(SPRED1):c.60G>A (p.Val20=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 1329066	NM_152594.3(SPRED1):c.60G>C (p.Val20=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome +2 more	GLikely benign
Select item 2202336	NM_152594.3(SPRED1):c.69C>T (p.Thr23=)	SPRED1	Single nucleotide variant (synonymous variant)	Legius syndrome	GLikely benign
Select item 1810	NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)	SPRED1 (R24*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 373025	NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln)	SPRED1 (R24Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 391600	NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly)	SPRED1 (D25G)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance
Select item 1334305	NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly)	SPRED1 (S28G)	Single nucleotide variant (missense variant)	Legius syndrome +1 more	GUncertain significance

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