ClinVar for Gene (Select 341640) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1908

<< First< Prev

Page of 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096820	NM_207361.6(FREM2):c.8338C>T (p.Leu2780Phe)	FREM2 (L2780F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096819	NM_207361.6(FREM2):c.8306T>C (p.Met2769Thr)	FREM2 (M2769T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096818	NM_207361.6(FREM2):c.7495A>G (p.Ile2499Val)	FREM2 (I2499V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096817	NM_207361.6(FREM2):c.7292C>T (p.Thr2431Met)	FREM2 (T2431M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096816	NM_207361.6(FREM2):c.727G>A (p.Ala243Thr)	FREM2 (A243T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096815	NM_207361.6(FREM2):c.7163A>G (p.Lys2388Arg)	FREM2 (K2388R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3096814	NM_207361.6(FREM2):c.6451C>T (p.His2151Tyr)	FREM2 (H2151Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096813	NM_207361.6(FREM2):c.6317T>C (p.Met2106Thr)	FREM2 (M2106T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096812	NM_207361.6(FREM2):c.6187G>C (p.Gly2063Arg)	FREM2 (G2063R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096811	NM_207361.6(FREM2):c.583G>A (p.Gly195Arg)	FREM2 (G195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096810	NM_207361.6(FREM2):c.5611G>A (p.Ala1871Thr)	FREM2 (A1871T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3096809	NM_207361.6(FREM2):c.5510G>C (p.Trp1837Ser)	FREM2 (W1837S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096808	NM_207361.6(FREM2):c.535C>G (p.Leu179Val)	FREM2 (L179V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096807	NM_207361.6(FREM2):c.5311A>G (p.Ile1771Val)	FREM2 (I1771V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096804	NM_207361.6(FREM2):c.4903G>A (p.Val1635Met)	FREM2 (V1635M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096802	NM_207361.6(FREM2):c.4426G>T (p.Gly1476Cys)	FREM2 (G1476C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096800	NM_207361.6(FREM2):c.3968A>G (p.Asn1323Ser)	FREM2 (N1323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096799	NM_207361.6(FREM2):c.395G>A (p.Gly132Asp)	FREM2 (G132D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096798	NM_207361.6(FREM2):c.3748G>C (p.Glu1250Gln)	FREM2 (E1250Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096797	NM_207361.6(FREM2):c.3748G>A (p.Glu1250Lys)	FREM2 (E1250K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096796	NM_207361.6(FREM2):c.3673T>A (p.Leu1225Ile)	FREM2 (L1225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096795	NM_207361.6(FREM2):c.3163A>G (p.Ile1055Val)	FREM2 (I1055V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3096794	NM_207361.6(FREM2):c.2791G>A (p.Val931Ile)	FREM2 (V931I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096793	NM_207361.6(FREM2):c.2649C>G (p.Ile883Met)	FREM2 (I883M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096792	NM_207361.6(FREM2):c.2366C>A (p.Pro789Gln)	FREM2 (P789Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096791	NM_207361.6(FREM2):c.2063G>A (p.Arg688Gln)	FREM2 (R688Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096790	NM_207361.6(FREM2):c.1896G>C (p.Glu632Asp)	FREM2 (E632D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096789	NM_207361.6(FREM2):c.1694C>G (p.Ala565Gly)	FREM2 (A565G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096788	NM_207361.6(FREM2):c.14G>T (p.Gly5Val)	FREM2 (G5V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096787	NM_207361.6(FREM2):c.1441C>G (p.Leu481Val)	FREM2 (L481V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096786	NM_207361.6(FREM2):c.13G>T (p.Gly5Trp)	FREM2 (G5W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096785	NM_207361.6(FREM2):c.1343T>C (p.Ile448Thr)	FREM2 (I448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096784	NM_207361.6(FREM2):c.130G>A (p.Val44Ile)	FREM2 (V44I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096783	NM_207361.6(FREM2):c.1309A>G (p.Met437Val)	FREM2 (M437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096782	NM_207361.6(FREM2):c.1222T>A (p.Phe408Ile)	FREM2 (F408I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096781	NM_207361.6(FREM2):c.1205C>T (p.Ser402Phe)	FREM2 (S402F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096780	NM_207361.6(FREM2):c.1193C>A (p.Pro398His)	FREM2 (P398H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096779	NM_207361.6(FREM2):c.1130G>C (p.Ser377Thr)	FREM2 (S377T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096778	NM_207361.6(FREM2):c.1097G>A (p.Gly366Asp)	FREM2 (G366D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096777	NM_207361.6(FREM2):c.1085C>T (p.Pro362Leu)	FREM2 (P362L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3061640	NM_207361.6(FREM2):c.2097C>G (p.Leu699=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3060349	NM_207361.6(FREM2):c.7520-3A>C	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 3057517	NM_207361.6(FREM2):c.4074T>C (p.Thr1358=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3053539	NM_207361.6(FREM2):c.4329A>G (p.Leu1443=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3046884	NM_207361.6(FREM2):c.8280C>T (p.Pro2760=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3037638	NM_207361.6(FREM2):c.87G>C (p.Arg29=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3037332	NM_207361.6(FREM2):c.5790G>C (p.Pro1930=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3033013	NM_207361.6(FREM2):c.5991A>G (p.Gln1997=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3032683	NM_207361.6(FREM2):c.5538G>A (p.Glu1846=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3032233	NM_207361.6(FREM2):c.5460C>G (p.Gly1820=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3032200	NM_207361.6(FREM2):c.5714G>A (p.Arg1905Lys)	FREM2 (R1905K)	Single nucleotide variant (missense variant)	FREM2-related disorder	GUncertain significance
Select item 3032182	NM_207361.6(FREM2):c.5767+5C>G	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 3029998	NM_207361.6(FREM2):c.5768-7C>T	FREM2	Single nucleotide variant (intron variant)	FREM2-related disorder	GLikely benign
Select item 3029897	NM_207361.6(FREM2):c.7548T>G (p.Val2516=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3029006	NM_207361.6(FREM2):c.4575C>T (p.Ser1525=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	INTS6, ITM2B +119 more	Copy number loss	not provided	GPathogenic
Select item 3023951	NM_207361.6(FREM2):c.4734T>C (p.His1578=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023819	NM_207361.6(FREM2):c.2238C>T (p.Pro746=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023424	NM_207361.6(FREM2):c.6577+18del	FREM2	Deletion (intron variant)	not provided	GLikely benign
Select item 3023136	NM_207361.6(FREM2):c.5751C>G (p.Val1917=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022856	NM_207361.6(FREM2):c.5967C>T (p.Ile1989=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022596	NM_207361.6(FREM2):c.6169+19G>A	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022220	NM_207361.6(FREM2):c.8205C>T (p.Ile2735=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022192	NM_207361.6(FREM2):c.7983+16A>T	FREM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021734	NM_207361.6(FREM2):c.5641+19T>C	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021329	NM_207361.6(FREM2):c.1773A>G (p.Ser591=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020777	NM_207361.6(FREM2):c.8409+9C>T	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020408	NM_207361.6(FREM2):c.7216-20C>A	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020277	NM_207361.6(FREM2):c.6321C>T (p.Asn2107=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018946	NM_207361.6(FREM2):c.2059C>T (p.Gln687Ter)	FREM2 (Q687*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3018925	NM_207361.6(FREM2):c.9240G>A (p.Leu3080=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018585	NM_207361.6(FREM2):c.477G>T (p.Ala159=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017287	NM_207361.6(FREM2):c.1161T>C (p.Asp387=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016918	NM_207361.6(FREM2):c.4044A>G (p.Gly1348=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016777	NM_207361.6(FREM2):c.8988C>T (p.Asp2996=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016206	NM_207361.6(FREM2):c.2472C>T (p.Pro824=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016186	NM_207361.6(FREM2):c.909C>T (p.Phe303=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016075	NM_207361.6(FREM2):c.2085T>A (p.Pro695=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016041	NM_207361.6(FREM2):c.1035C>T (p.Ala345=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014973	NM_207361.6(FREM2):c.4416G>A (p.Thr1472=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013953	NM_207361.6(FREM2):c.8640C>T (p.Phe2880=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013816	NM_207361.6(FREM2):c.6432G>C (p.Gly2144=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013675	NM_207361.6(FREM2):c.4440G>A (p.Thr1480=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012758	NM_207361.6(FREM2):c.3569del (p.Gln1190fs)	FREM2 (Q1190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3012741	NM_207361.6(FREM2):c.6380-12T>C	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012401	NM_207361.6(FREM2):c.3488T>A (p.Phe1163Tyr)	FREM2 (F1163Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3012394	NM_207361.6(FREM2):c.4320A>G (p.Thr1440=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012211	NM_207361.6(FREM2):c.1581G>A (p.Ser527=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011923	NM_207361.6(FREM2):c.3174C>G (p.Thr1058=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011891	NM_207361.6(FREM2):c.1060C>T (p.Leu354=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011571	NM_207361.6(FREM2):c.8166T>C (p.Ala2722=)	FREM2	Single nucleotide variant (synonymous variant)	FREM2-related disorder +1 more	GLikely benign
Select item 3011478	NM_207361.6(FREM2):c.7461C>T (p.Thr2487=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011224	NM_207361.6(FREM2):c.3453T>C (p.Ser1151=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011197	NM_207361.6(FREM2):c.1425C>T (p.Asp475=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010423	NM_207361.6(FREM2):c.3073C>T (p.Leu1025=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010124	NM_207361.6(FREM2):c.6462G>A (p.Gly2154=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009791	NM_207361.6(FREM2):c.7215+17C>A	FREM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009417	NM_207361.6(FREM2):c.2260C>T (p.Leu754=)	FREM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 20