"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FRAS1"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 164

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 349650	NM_025074.7(FRAS1):c.-18G>T	FRAS1	Single nucleotide variant (5 prime UTR variant)	Fraser syndrome 1	GUncertain significance
Select item 1201255	NM_025074.7(FRAS1):c.109G>A (p.Asp37Asn)	FRAS1 (D37N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349655	NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg)	FRAS1 (L76R)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1179131	NM_025074.7(FRAS1):c.364del (p.Glu122fs)	FRAS1 (E122fs)	Deletion (frameshift variant)	Fraser syndrome 1 +1 more	GPathogenic
Select item 197861	NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)	FRAS1 (R124*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 349658	NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu)	FRAS1 (P132L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 724130	NM_025074.7(FRAS1):c.396G>A (p.Pro132=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1049832	NM_025074.7(FRAS1):c.517C>T (p.Arg173Trp)	FRAS1 (R173W)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 906104	NM_025074.7(FRAS1):c.585G>T (p.Gln195His)	FRAS1 (Q195H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1536162	NM_025074.7(FRAS1):c.687+20A>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 349668	NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys)	FRAS1 (E236K)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 198912	NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)	FRAS1 (L259R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1661793	NM_025074.7(FRAS1):c.783C>T (p.Cys261=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 903747	NM_025074.7(FRAS1):c.789+12T>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1572827	NM_025074.7(FRAS1):c.790-20C>T	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 1512216	NM_025074.7(FRAS1):c.805C>T (p.Arg269Trp)	FRAS1 (R269W)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 593858	NM_025074.7(FRAS1):c.808C>T (p.Arg270Cys)	FRAS1 (R270C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 903748	NM_025074.7(FRAS1):c.809G>A (p.Arg270His)	FRAS1 (R270H)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1432992	NM_025074.7(FRAS1):c.847G>A (p.Gly283Arg)	FRAS1 (G283R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 903749	NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr)	FRAS1 (S286T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1343039	NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter)	FRAS1 (Q312*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 905661	NM_025074.7(FRAS1):c.1072-5C>T	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 1599927	NM_025074.7(FRAS1):c.1108-12T>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 916647	NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)	FRAS1 (R385*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1404515	NM_025074.7(FRAS1):c.1177G>A (p.Glu393Lys)	FRAS1 (E393K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 725673	NM_025074.7(FRAS1):c.1255+10T>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 349677	NM_025074.7(FRAS1):c.1416C>T (p.Cys472=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 1507950	NM_025074.7(FRAS1):c.1472G>A (p.Arg491Gln)	FRAS1 (R491Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1350003	NM_025074.7(FRAS1):c.1477G>A (p.Gly493Arg)	FRAS1 (G493R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1551731	NM_025074.7(FRAS1):c.1534+19A>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 349680	NM_025074.7(FRAS1):c.1609G>A (p.Val537Met)	FRAS1 (V537M)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 349682	NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)	FRAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 349683	NM_025074.7(FRAS1):c.1710C>T (p.Pro570=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 705902	NM_025074.7(FRAS1):c.1716C>T (p.Ser572=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 1337801	NM_025074.7(FRAS1):c.1882C>A (p.Pro628Thr)	FRAS1 (P628T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 281549	NM_025074.7(FRAS1):c.1897C>T (p.Arg633Cys)	FRAS1 (R633C)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 194789	NM_025074.7(FRAS1):c.1931del (p.Gly644fs)	FRAS1 (G644fs)	Deletion (frameshift variant)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1048892	NM_025074.7(FRAS1):c.2054T>G (p.Leu685Arg)	FRAS1 (L685R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 797400	NM_025074.7(FRAS1):c.2070C>T (p.Ile690=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 349692	NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr)	FRAS1 (C711Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1050651	NM_025074.7(FRAS1):c.2137G>A (p.Ala713Thr)	FRAS1 (A713T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 735512	NM_025074.7(FRAS1):c.2313G>A (p.Pro771=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 906237	NM_025074.7(FRAS1):c.2345A>T (p.His782Leu)	FRAS1 (H782L)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1050656	NM_025074.7(FRAS1):c.2423A>G (p.Asp808Gly)	FRAS1 (D808G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1486899	NM_025074.7(FRAS1):c.2515G>A (p.Gly839Arg)	FRAS1 (G839R)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 795868	NM_025074.7(FRAS1):c.2625C>T (p.Cys875=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 435260	NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)	FRAS1 (Q907*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 597377	NM_025074.7(FRAS1):c.2803G>C (p.Gly935Arg)	FRAS1 (G935R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1661350	NM_025074.7(FRAS1):c.2826C>T (p.Cys942=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 907238	NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val)	FRAS1 (D949V)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 1464053	NM_025074.7(FRAS1):c.2891C>T (p.Ala964Val)	FRAS1 (A964V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468878	NM_025074.7(FRAS1):c.2962G>A (p.Val988Met)	FRAS1 (V988M)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 265541	NM_025074.7(FRAS1):c.3010+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1617122	NM_025074.7(FRAS1):c.3010+14_3010+29del	FRAS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 905780	NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)	FRAS1 (P1053T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1475259	NM_025074.7(FRAS1):c.3190C>T (p.Arg1064Cys)	FRAS1 (R1064C)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 649233	NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu)	FRAS1 (R1064L)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 285036	NM_025074.7(FRAS1):c.3523G>A (p.Glu1175Lys)	FRAS1 (E1175K)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349707	NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1303556	NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn)	FRAS1 (K1321N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GUncertain significance
Select item 906291	NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp)	FRAS1 (G1329D)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 349710	NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)	FRAS1 (G1394A)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 916660	NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)	FRAS1 (Q1395*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 196712	NM_025074.7(FRAS1):c.4308+10G>T	FRAS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 702715	NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 1541310	NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 976637	NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln)	FRAS1 (R1527Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349715	NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)	FRAS1 (L1550F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 349717	NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro)	FRAS1 (L1561P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905844	NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln)	FRAS1 (R1603Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905845	NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile)	FRAS1 (T1625I)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 349720	NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile)	FRAS1 (T1647I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 706216	NM_025074.7(FRAS1):c.4969+9A>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign
Select item 1600906	NM_025074.7(FRAS1):c.4969+19A>T	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1352932	NM_025074.7(FRAS1):c.4982C>A (p.Thr1661Asn)	FRAS1 (T1661N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1469113	NM_025074.7(FRAS1):c.5006C>T (p.Ala1669Val)	FRAS1 (A1669V)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 755253	NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1360993	NM_025074.7(FRAS1):c.5027G>A (p.Gly1676Asp)	FRAS1 (G1676D)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349722	NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln)	FRAS1 (R1680Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 499147	NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)	FRAS1 (R1709*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 452813	NM_025074.7(FRAS1):c.5128G>A (p.Gly1710Arg)	FRAS1 (G1710R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 766792	NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 349727	NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val)	FRAS1 (I1930V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 907366	NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn)	FRAS1 (K1954N)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 373336	NM_025074.7(FRAS1):c.5939C>T (p.Ser1980Phe)	FRAS1 (S1980F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 698179	NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 1401258	NM_025074.7(FRAS1):c.6002C>T (p.Pro2001Leu)	FRAS1 (P2001L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 904028	NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)	FRAS1 (R2096C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1435622	NM_025074.7(FRAS1):c.6496C>A (p.Pro2166Thr)	FRAS1 (P2166T)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 349744	NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln)	FRAS1 (R2269Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 1176479	NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2815	NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)	FRAS1 (V2322fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 349747	NM_025074.7(FRAS1):c.7029+9A>C	FRAS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1526220	NM_025074.7(FRAS1):c.7030-6G>A	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 489090	NM_025074.7(FRAS1):c.7030-3C>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 788524	NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1386134	NM_025074.7(FRAS1):c.7067G>A (p.Arg2356His)	FRAS1 (R2356H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 993017	NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)	FRAS1 (R2362*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 907423	NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln)	FRAS1 (R2362Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1400452	NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn)	FRAS1 (S2388N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance

<< First< Prev

Page of 2