ClinVar for MedGen (Select 1639061) - 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 3065001	NM_025074.7(FRAS1):c.5423del (p.Ser1808fs)	FRAS1 (S1808fs)	Deletion (frameshift variant)	Fraser syndrome 1	GUncertain significance
Select item 3062299	NM_025074.7(FRAS1):c.10540+3A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 2755916	NM_025074.7(FRAS1):c.9181dup (p.Ala3061fs)	FRAS1 (A3061fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2691573	NM_207361.6(FREM2):c.8451dup (p.Cys2818fs)	FREM2 (C2818fs)	Duplication (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 2690602	NM_025074.7(FRAS1):c.5218-1G>T	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 2689090	NM_025074.7(FRAS1):c.2827G>A (p.Ala943Thr)	FRAS1 (A943T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2628330	NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)	FREM2 (I72T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2627963	NM_025074.7(FRAS1):c.5069A>G (p.Asp1690Gly)	FRAS1 (D1690G)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2626859	NM_025074.7(FRAS1):c.3975+1G>C	FRAS1	Single nucleotide variant (splice donor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 2501258	NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)	FRAS1 (Y1541*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2501257	NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del	FRAS1	Deletion	Fraser syndrome 1	GLikely pathogenic
Select item 2501256	NM_025074.7(FRAS1):c.604-1G>C	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 2501255	NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)	FRAS1 (K5*)	Single nucleotide variant (nonsense)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2445969	NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)	FREM2, LOC130009588 (D2695*)	Duplication (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2444369	NM_025074.7(FRAS1):c.3152-2A>G	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1 +1 more	GLikely pathogenic
Select item 2441836	NM_025074.7(FRAS1):c.4540+752A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GUncertain significance
Select item 2441786	NM_025074.7(FRAS1):c.8922del (p.Asp2975fs)	FRAS1 (D2975fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 2441571	NM_025074.7(FRAS1):c.9008A>C (p.Glu3003Ala)	FRAS1 (E3003A)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441570	NM_025074.7(FRAS1):c.3957A>G (p.Gln1319=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2441569	NM_025074.7(FRAS1):c.5611A>G (p.Ile1871Val)	FRAS1 (I1871V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441568	NM_025074.7(FRAS1):c.8555A>G (p.Tyr2852Cys)	FRAS1, LOC126807088 (Y2852C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441567	NM_025074.7(FRAS1):c.4955G>A (p.Arg1652Lys)	FRAS1 (R1652K)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441565	NM_025074.7(FRAS1):c.4912C>T (p.Pro1638Ser)	FRAS1 (P1638S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441564	NM_025074.7(FRAS1):c.2550C>T (p.Tyr850=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2441563	NM_025074.7(FRAS1):c.8467C>T (p.Arg2823Cys)	FRAS1, LOC126807088 (R2823C)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441562	NM_025074.7(FRAS1):c.9716A>G (p.Asn3239Ser)	FRAS1 (N3239S)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441560	NM_025074.7(FRAS1):c.6776G>C (p.Ser2259Thr)	FRAS1 (S2259T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 2441559	NM_025074.7(FRAS1):c.3936C>T (p.Ser1312=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 2441558	NM_025074.7(FRAS1):c.8731A>G (p.Ile2911Val)	FRAS1 (I2911V)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 2440318	NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)	FRAS1 (Q128*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2375694	NM_025074.7(FRAS1):c.9016T>C (p.Phe3006Leu)	FRAS1 (F3006L)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 2348405	NM_025074.7(FRAS1):c.572C>T (p.Thr191Ile)	FRAS1 (T191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2317886	NM_025074.7(FRAS1):c.9845A>G (p.Lys3282Arg)	FRAS1 (K3282R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2082812	NM_025074.7(FRAS1):c.7280C>A (p.Pro2427Gln)	FRAS1 (P2427Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 2024612	NM_025074.7(FRAS1):c.9575del (p.Pro3192fs)	FRAS1 (P3192fs)	Deletion (frameshift variant)	Fraser syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 1878400	NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)	GRIP1 (V4fs)	Deletion (frameshift variant +1 more)	Fraser syndrome 1	GLikely pathogenic
Select item 1805701	NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)	FREM2 (A159T)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1804833	NM_025074.7(FRAS1):c.7258-2A>G	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1723260	NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)	FREM2 (L1254*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 1711869	NM_025074.7(FRAS1):c.4556G>A (p.Arg1519Gln)	FRAS1 (R1519Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1710019	NM_025074.7(FRAS1):c.1682G>A (p.Cys561Tyr)	FRAS1 (C561Y)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1705727	NM_025074.7(FRAS1):c.2376del (p.Ser793fs)	FRAS1 (S793fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1683415	NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs)	FREM2 (Y2209fs)	Duplication (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1679297	NM_025074.7(FRAS1):c.3569G>T (p.Gly1190Val)	FRAS1 (G1190V)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 1669738	NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 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 1636926	NM_025074.7(FRAS1):c.10390-18A>T	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1635976	NM_025074.7(FRAS1):c.10540+15G>A	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1629159	NM_025074.7(FRAS1):c.10649-18T>C	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign/Likely benign
Select item 1617122	NM_025074.7(FRAS1):c.3010+14_3010+29del	FRAS1	Deletion (intron variant)	not provided +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 1599927	NM_025074.7(FRAS1):c.1108-12T>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 1551731	NM_025074.7(FRAS1):c.1534+19A>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely 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 1536162	NM_025074.7(FRAS1):c.687+20A>G	FRAS1	Single nucleotide variant (intron variant)	not provided +1 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 1520890	NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=)	FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GLikely benign
Select item 1519979	NM_025074.7(FRAS1):c.10960C>T (p.Arg3654Cys)	FRAS1, LOC126807089 (R3654C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 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 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 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 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 1469071	NM_025074.7(FRAS1):c.11775T>A (p.Phe3925Leu)	FRAS1 (F3925L)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +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 1468370	NM_025074.7(FRAS1):c.10587A>C (p.Arg3529Ser)	FRAS1 (R3529S)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 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 1447236	NM_025074.7(FRAS1):c.10418C>T (p.Thr3473Ile)	FRAS1 (T3473I)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
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 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 1424908	NM_025074.7(FRAS1):c.9724C>T (p.Arg3242Trp)	FRAS1 (R3242W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1421677	NM_025074.7(FRAS1):c.7696G>A (p.Glu2566Lys)	FRAS1 (E2566K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1415194	NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=)	FRAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
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 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 1400452	NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn)	FRAS1 (S2388N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
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 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 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 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 1343710	NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser)	FRAS1 (P3632S)	Single nucleotide variant (missense variant)	not specified +1 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 1341530	NM_025074.7(FRAS1):c.5166del (p.Val1723fs)	FRAS1 (V1723fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 1339736	NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro)	FRAS1 (T3636P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1332873	NM_025074.7(FRAS1):c.3293-2A>T	FRAS1	Single nucleotide variant (splice acceptor variant)	Fraser syndrome 1	GPathogenic
Select item 1328430	NM_025074.7(FRAS1):c.5857-5A>G	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1328429	NM_025074.7(FRAS1):c.6342del (p.Met2115fs)	FRAS1 (M2115fs)	Deletion (frameshift variant)	Fraser syndrome 1	GLikely pathogenic
Select item 1328428	NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)	FRAS1 (Q1211*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 1324425	NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)	FRAS1 (C937*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 1322940	NM_207361.6(FREM2):c.2833del (p.His945fs)	FREM2 (H945fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1322936	NM_025074.7(FRAS1):c.2692del (p.His898fs)	FRAS1 (H898fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 1313408	NM_025074.7(FRAS1):c.8833G>A (p.Gly2945Arg)	FRAS1 (G2945R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1299269	NM_025074.7(FRAS1):c.10231G>A (p.Asp3411Asn)	FRAS1 (D3411N)	Single nucleotide variant (missense variant)	Fraser syndrome 1 +1 more	GUncertain significance
Select item 1285281	NM_025074.7(FRAS1):c.10649-29T>A	FRAS1	Single nucleotide variant (intron variant)	Fraser syndrome 1 +1 more	GBenign

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