ClinVar for Gene (Select 80144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362661	NM_025074.7(FRAS1):c.5248_5249insAATTATCAGTTAAATTTATC (p.Ile1750fs)	FRAS1 (I1750fs)	Insertion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3362449	NM_025074.7(FRAS1):c.1889dup (p.Ala631fs)	FRAS1 (A631fs)	Duplication (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 3361542	NM_025074.7(FRAS1):c.9104A>G (p.Asn3035Ser)	FRAS1 (N3035S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360638	NM_025074.7(FRAS1):c.3056C>T (p.Thr1019Ile)	FRAS1 (T1019I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358620	NM_025074.7(FRAS1):c.1960+1G>A	FRAS1	Single nucleotide variant (splice donor variant)	FRAS1-related disorder	GUncertain significance
Select item 3355218	NM_025074.7(FRAS1):c.6604A>G (p.Ile2202Val)	FRAS1 (I2202V)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GLikely benign
Select item 3353818	NM_025074.7(FRAS1):c.3965C>A (p.Thr1322Asn)	FRAS1 (T1322N)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3353661	NM_025074.7(FRAS1):c.3044C>T (p.Pro1015Leu)	FRAS1 (P1015L)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3352745	NM_025074.7(FRAS1):c.2062G>A (p.Val688Met)	FRAS1 (V688M)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3351217	NM_025074.7(FRAS1):c.3443A>G (p.Asn1148Ser)	FRAS1 (N1148S)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3348218	NM_025074.7(FRAS1):c.1637G>A (p.Ser546Asn)	FRAS1 (S546N)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3347360	NM_025074.7(FRAS1):c.11240G>A (p.Gly3747Glu)	FRAS1 (G3747E)	Single nucleotide variant (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3346985	NM_025074.7(FRAS1):c.9852C>T (p.Gly3284=)	FRAS1	Single nucleotide variant (synonymous variant)	FRAS1-related disorder	GUncertain significance
Select item 3345233	NM_025074.7(FRAS1):c.3838_3839delinsTT (p.Gln1280Leu)	FRAS1 (Q1280L)	Indel (missense variant)	FRAS1-related disorder	GUncertain significance
Select item 3344958	NM_025074.7(FRAS1):c.8698G>T (p.Glu2900Ter)	FRAS1 (E2900*)	Single nucleotide variant (nonsense)	FRAS1-related disorder	GPathogenic
Select item 3343850	NM_025074.7(FRAS1):c.11839C>T (p.Pro3947Ser)	FRAS1 (P3947S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340375	NM_025074.7(FRAS1):c.3877C>T (p.His1293Tyr)	FRAS1 (H1293Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339307	NM_025074.7(FRAS1):c.7682+4C>A	FRAS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3279766	NM_025074.7(FRAS1):c.9256G>A (p.Gly3086Ser)	FRAS1 (G3086S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279765	NM_025074.7(FRAS1):c.6689G>T (p.Ser2230Ile)	FRAS1 (S2230I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279764	NM_025074.7(FRAS1):c.921G>A (p.Met307Ile)	FRAS1 (M307I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279763	NM_025074.7(FRAS1):c.250T>G (p.Cys84Gly)	FRAS1 (C84G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279761	NM_025074.7(FRAS1):c.3398G>A (p.Gly1133Asp)	FRAS1 (G1133D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279760	NM_025074.7(FRAS1):c.566G>A (p.Cys189Tyr)	FRAS1 (C189Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279759	NM_025074.7(FRAS1):c.5524A>G (p.Ile1842Val)	FRAS1 (I1842V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279758	NM_025074.7(FRAS1):c.8486C>T (p.Ser2829Phe)	FRAS1, LOC126807088 (S2829F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279757	NM_025074.7(FRAS1):c.674G>T (p.Gly225Val)	FRAS1 (G225V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279756	NM_025074.7(FRAS1):c.4167C>A (p.Ser1389Arg)	FRAS1 (S1389R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279755	NM_025074.7(FRAS1):c.7454C>G (p.Thr2485Arg)	FRAS1 (T2485R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279754	NM_025074.7(FRAS1):c.2368T>C (p.Cys790Arg)	FRAS1 (C790R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279753	NM_025074.7(FRAS1):c.4115A>G (p.Asp1372Gly)	FRAS1 (D1372G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279751	NM_025074.7(FRAS1):c.5521C>T (p.Leu1841Phe)	FRAS1 (L1841F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279750	NM_025074.7(FRAS1):c.1997C>G (p.Ala666Gly)	FRAS1 (A666G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279749	NM_025074.7(FRAS1):c.3277A>G (p.Asn1093Asp)	FRAS1 (N1093D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279748	NM_025074.7(FRAS1):c.8064C>G (p.Ser2688Arg)	FRAS1 (S2688R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279747	NM_025074.7(FRAS1):c.2207A>T (p.His736Leu)	FRAS1 (H736L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279746	NM_025074.7(FRAS1):c.1093G>T (p.Val365Phe)	FRAS1 (V365F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279745	NM_025074.7(FRAS1):c.10268C>T (p.Pro3423Leu)	FRAS1 (P3423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279744	NM_025074.7(FRAS1):c.941C>A (p.Thr314Asn)	FRAS1 (T314N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279742	NM_025074.7(FRAS1):c.8596A>G (p.Ile2866Val)	FRAS1, LOC126807088 (I2866V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279741	NM_025074.7(FRAS1):c.6430A>G (p.Ile2144Val)	FRAS1 (I2144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279740	NM_025074.7(FRAS1):c.5470A>G (p.Ile1824Val)	FRAS1 (I1824V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279739	NM_025074.7(FRAS1):c.1084G>A (p.Ala362Thr)	FRAS1 (A362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279738	NM_025074.7(FRAS1):c.11626C>G (p.Gln3876Glu)	FRAS1 (Q3876E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279737	NM_025074.7(FRAS1):c.10293C>G (p.His3431Gln)	FRAS1 (H3431Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279736	NM_025074.7(FRAS1):c.8618C>G (p.Thr2873Ser)	FRAS1 (T2873S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279735	NM_025074.7(FRAS1):c.6320T>C (p.Ile2107Thr)	FRAS1 (I2107T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279734	NM_025074.7(FRAS1):c.4589C>T (p.Thr1530Met)	FRAS1 (T1530M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279732	NM_025074.7(FRAS1):c.8831G>A (p.Ser2944Asn)	FRAS1 (S2944N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279731	NM_025074.7(FRAS1):c.4337G>A (p.Arg1446His)	FRAS1 (R1446H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3279730	NM_025074.7(FRAS1):c.860A>G (p.Tyr287Cys)	FRAS1 (Y287C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279729	NM_025074.7(FRAS1):c.9967G>A (p.Ala3323Thr)	FRAS1 (A3323T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279728	NM_025074.7(FRAS1):c.8233G>A (p.Gly2745Arg)	FRAS1 (G2745R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246771	NC_000004.11:g.(?_79188062)_(79189234_?)del	FRAS1	Deletion	not provided	GLikely pathogenic
Select item 3246770	NC_000004.11:g.(?_79420984)_(79423016_?)del	FRAS1	Deletion	not provided	GLikely pathogenic
Select item 3246769	NC_000004.11:g.(?_79186159)_(79207713_?)dup	FRAS1	Duplication	not provided	GLikely pathogenic
Select item 3246768	NC_000004.11:g.(?_79432408)_(79447831_?)dup	FRAS1	Duplication	not provided	GLikely pathogenic
Select item 3246767	NC_000004.11:g.(?_79362296)_(79373528_?)dup	FRAS1	Duplication	not provided	GLikely pathogenic
Select item 3246766	NC_000004.11:g.(?_79158644)_(79258991_?)dup	FRAS1	Duplication	not provided	GLikely pathogenic
Select item 3246765	NC_000004.11:g.(?_79295245)_(79305317_?)dup	FRAS1	Duplication	not provided	GLikely pathogenic
Select item 3246764	NC_000004.11:g.(?_79460428)_(79462278_?)del	FRAS1	Deletion	not provided	GLikely pathogenic
Select item 3246763	NC_000004.11:g.(?_79328797)_(79462278_?)del	FRAS1	Deletion	not provided	GLikely pathogenic
Select item 3246761	NC_000004.11:g.(?_79158644)_(79345594_?)del	FRAS1	Deletion	not provided	GPathogenic
Select item 3246760	NC_000004.11:g.(?_79158644)_(79240160_?)del	FRAS1	Deletion	not provided	GPathogenic
Select item 3246759	NC_000004.11:g.(?_79236728)_(79385757_?)del	FRAS1	Deletion	not provided	GPathogenic
Select item 3246758	NC_000004.11:g.(?_79173526)_(79173725_?)del	FRAS1	Deletion	not provided	GPathogenic
Select item 3096729	NM_025074.7(FRAS1):c.9842A>G (p.Asp3281Gly)	FRAS1 (D3281G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096728	NM_025074.7(FRAS1):c.9750C>A (p.Asp3250Glu)	FRAS1 (D3250E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096727	NM_025074.7(FRAS1):c.9644G>A (p.Arg3215His)	FRAS1 (R3215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096726	NM_025074.7(FRAS1):c.9532G>A (p.Val3178Met)	FRAS1 (V3178M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096725	NM_025074.7(FRAS1):c.9163G>C (p.Ala3055Pro)	FRAS1 (A3055P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096724	NM_025074.7(FRAS1):c.9155G>A (p.Arg3052Gln)	FRAS1 (R3052Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096723	NM_025074.7(FRAS1):c.8950G>A (p.Gly2984Arg)	FRAS1 (G2984R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096722	NM_025074.7(FRAS1):c.8671G>A (p.Val2891Ile)	FRAS1 (V2891I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096721	NM_025074.7(FRAS1):c.8339C>T (p.Ala2780Val)	FRAS1 (A2780V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096720	NM_025074.7(FRAS1):c.8216C>T (p.Ala2739Val)	FRAS1 (A2739V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096719	NM_025074.7(FRAS1):c.8065G>C (p.Ala2689Pro)	FRAS1 (A2689P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096717	NM_025074.7(FRAS1):c.7531A>C (p.Asn2511His)	FRAS1 (N2511H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096716	NM_025074.7(FRAS1):c.7433A>T (p.Gln2478Leu)	FRAS1 (Q2478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096715	NM_025074.7(FRAS1):c.7430C>T (p.Ala2477Val)	FRAS1 (A2477V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096714	NM_025074.7(FRAS1):c.7429G>A (p.Ala2477Thr)	FRAS1 (A2477T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096713	NM_025074.7(FRAS1):c.7186A>G (p.Lys2396Glu)	FRAS1 (K2396E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096712	NM_025074.7(FRAS1):c.7109A>G (p.His2370Arg)	FRAS1 (H2370R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096711	NM_025074.7(FRAS1):c.6943G>A (p.Val2315Ile)	FRAS1 (V2315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096710	NM_025074.7(FRAS1):c.6941T>C (p.Val2314Ala)	FRAS1 (V2314A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096709	NM_025074.7(FRAS1):c.6916C>T (p.His2306Tyr)	FRAS1 (H2306Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096708	NM_025074.7(FRAS1):c.6469G>A (p.Val2157Ile)	FRAS1 (V2157I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3096707	NM_025074.7(FRAS1):c.6467A>G (p.His2156Arg)	FRAS1 (H2156R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096706	NM_025074.7(FRAS1):c.6398G>T (p.Gly2133Val)	FRAS1 (G2133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096705	NM_025074.7(FRAS1):c.6364C>G (p.Pro2122Ala)	FRAS1 (P2122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096704	NM_025074.7(FRAS1):c.6112G>A (p.Val2038Ile)	FRAS1 (V2038I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096703	NM_025074.7(FRAS1):c.5834A>G (p.His1945Arg)	FRAS1 (H1945R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096702	NM_025074.7(FRAS1):c.5734A>G (p.Asn1912Asp)	FRAS1 (N1912D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096701	NM_025074.7(FRAS1):c.5510C>G (p.Ala1837Gly)	FRAS1 (A1837G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096700	NM_025074.7(FRAS1):c.5355C>A (p.Asn1785Lys)	FRAS1 (N1785K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096699	NM_025074.7(FRAS1):c.5124C>A (p.Asp1708Glu)	FRAS1 (D1708E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096698	NM_025074.7(FRAS1):c.505G>A (p.Gly169Arg)	FRAS1 (G169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096697	NM_025074.7(FRAS1):c.4973A>G (p.Asp1658Gly)	FRAS1 (D1658G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096696	NM_025074.7(FRAS1):c.4904G>A (p.Arg1635Gln)	FRAS1 (R1635Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096695	NM_025074.7(FRAS1):c.4868C>T (p.Ala1623Val)	FRAS1 (A1623V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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