Related gene-specific medical variations for Gene (Select 80144) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 107

<< First< Prev

Page of 2

	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 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 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 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 3065001	NM_025074.7(FRAS1):c.5423del (p.Ser1808fs)	FRAS1 (S1808fs)	Deletion (frameshift variant)	Fraser syndrome 1	GUncertain significance
Select item 3062790	GRCh37/hg19 4q21.21(chr4:79420258-79454893)x1	FRAS1	Copy number loss	not specified	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 3001381	NM_025074.7(FRAS1):c.11037C>A (p.Pro3679=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000776	NM_025074.7(FRAS1):c.8604+15G>A	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992635	NM_025074.7(FRAS1):c.10926-1G>A	FRAS1, LOC126807089	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2983765	NM_025074.7(FRAS1):c.11092+15C>T	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983172	NM_025074.7(FRAS1):c.11092+19C>G	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972490	NM_025074.7(FRAS1):c.11092+20T>A	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972126	NM_025074.7(FRAS1):c.11076A>G (p.Lys3692=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968668	NM_025074.7(FRAS1):c.8445C>A (p.Gly2815=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967899	NM_025074.7(FRAS1):c.10926-11del	FRAS1, LOC126807089	Deletion (intron variant)	not provided	GLikely benign
Select item 2914519	NM_025074.7(FRAS1):c.8538C>T (p.Ala2846=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903735	NM_025074.7(FRAS1):c.8514G>A (p.Thr2838=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881008	NM_025074.7(FRAS1):c.8595C>A (p.Val2865=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874789	NM_025074.7(FRAS1):c.8604+18G>A	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872072	NM_025074.7(FRAS1):c.10968G>T (p.Val3656=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871713	NM_025074.7(FRAS1):c.10926-6A>G	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869105	NM_025074.7(FRAS1):c.8472T>C (p.His2824=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856253	NM_025074.7(FRAS1):c.10938C>G (p.Pro3646=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855477	NM_025074.7(FRAS1):c.11026C>T (p.Leu3676=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822747	NM_025074.7(FRAS1):c.10992T>C (p.Thr3664=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806355	NM_025074.7(FRAS1):c.10930C>T (p.Leu3644=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2805676	NM_025074.7(FRAS1):c.11092+12C>T	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800669	NM_025074.7(FRAS1):c.8589T>C (p.Pro2863=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800085	NM_025074.7(FRAS1):c.8469C>T (p.Arg2823=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796776	NM_025074.7(FRAS1):c.11016G>A (p.Glu3672=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792604	NM_025074.7(FRAS1):c.11025C>T (p.Phe3675=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788871	NM_025074.7(FRAS1):c.8444-20C>G	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745233	NM_025074.7(FRAS1):c.10944A>G (p.Ala3648=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737812	NM_025074.7(FRAS1):c.10962C>T (p.Arg3654=)	LOC126807089, FRAS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711218	NM_025074.7(FRAS1):c.8465del (p.Ile2822fs)	FRAS1, LOC126807088 (I2822fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2709249	NM_025074.7(FRAS1):c.11092+14T>C	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708269	NM_025074.7(FRAS1):c.8562C>G (p.Pro2854=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694784	NM_025074.7(FRAS1):c.11092+9C>G	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2440318	NM_025074.7(FRAS1):c.382C>T (p.Gln128Ter)	FRAS1 (Q128*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GLikely pathogenic
Select item 2378311	NM_025074.7(FRAS1):c.8570G>A (p.Arg2857Gln)	FRAS1, LOC126807088 (R2857Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283335	NM_025074.7(FRAS1):c.11036C>T (p.Pro3679Leu)	FRAS1, LOC126807089 (P3679L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270798	NM_025074.7(FRAS1):c.8512A>T (p.Thr2838Ser)	FRAS1, LOC126807088 (T2838S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258824	NM_025074.7(FRAS1):c.8488A>G (p.Thr2830Ala)	FRAS1, LOC126807088 (T2830A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2169794	NM_025074.7(FRAS1):c.8604+4C>T	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2144848	NM_025074.7(FRAS1):c.10961G>A (p.Arg3654His)	FRAS1, LOC126807089 (R3654H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1983030	NM_025074.7(FRAS1):c.8557G>T (p.Val2853Phe)	FRAS1, LOC126807088 (V2853F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809255	GRCh37/hg19 4q21.21(chr4:78947327-79326031)x1	FRAS1	Copy number loss	not provided	GUncertain significance
Select item 1719234	NM_025074.7(FRAS1):c.10970C>T (p.Pro3657Leu)	FRAS1, LOC126807089 (P3657L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1590602	NM_025074.7(FRAS1):c.8592T>C (p.Gly2864=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided	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 1344614	NM_025074.7(FRAS1):c.3998T>C (p.Val1333Ala)	FRAS1 (V1333A)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GLikely pathogenic
Select item 1343713	NM_025074.7(FRAS1):c.10961G>T (p.Arg3654Leu)	FRAS1, LOC126807089 (R3654L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1322936	NM_025074.7(FRAS1):c.2692del (p.His898fs)	FRAS1 (H898fs)	Deletion (frameshift variant)	Fraser syndrome 1	GPathogenic
Select item 1312690	NM_025074.7(FRAS1):c.8449G>A (p.Val2817Ile)	FRAS1, LOC126807088 (V2817I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306363	NM_025074.7(FRAS1):c.8588C>G (p.Pro2863Arg)	FRAS1, LOC126807088 (P2863R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302190	NM_025074.7(FRAS1):c.11092+5G>T	FRAS1, LOC126807089	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 931341	NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)	FRAS1 (H2101Q)	Single nucleotide variant (missense variant)	Fraser syndrome 1	GUncertain significance
Select item 916669	NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)	FRAS1, LOC126807089 (Q3667*)	Single nucleotide variant (nonsense)	Fraser syndrome 1	GPathogenic
Select item 916658	NM_025074.7(FRAS1):c.8604+5G>A	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	Fraser syndrome 1	GLikely pathogenic
Select item 904154	NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	Fraser syndrome 1	GUncertain significance
Select item 904153	NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 814573	GRCh37/hg19 4q21.21(chr4:79112309-79175262)x1	FRAS1	Copy number loss	not provided	GUncertain significance
Select item 777067	NM_025074.7(FRAS1):c.11028A>G (p.Leu3676=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747156	NM_025074.7(FRAS1):c.10938C>T (p.Pro3646=)	FRAS1, LOC126807089	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746708	NM_025074.7(FRAS1):c.8604+9A>G	FRAS1, LOC126807088	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687766	GRCh37/hg19 4q21.21(chr4:79214098-79261919)x1	FRAS1	Copy number loss	not provided	GPathogenic
Select item 687310	GRCh37/hg19 4q21.21(chr4:79097584-79166086)x4	FRAS1	Copy number gain	not provided	GUncertain significance
Select item 591507	NM_025074.7(FRAS1):c.11502del (p.Ile3835fs)	FRAS1 (I3835fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 349771	NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)	FRAS1, LOC126807088	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 349770	NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=)	LOC126807088, FRAS1	Single nucleotide variant (synonymous variant)	Fraser syndrome 1 +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2