FKBP14-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 402867	NM_017946.4(FKBP14):c.*672C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 1210573	NM_017946.4(FKBP14):c.*2G>C	FKBP14, FKBP14-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 807418	NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr)	FKBP14, FKBP14-AS1	Single nucleotide variant (stop lost +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GPathogenic
Select item 1904530	NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser)	FKBP14, FKBP14-AS1 (L211S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1664557	NM_017946.4(FKBP14):c.624C>T (p.His208=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 947926	NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln)	FKBP14, FKBP14-AS1 (K207Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GUncertain significance
Select item 2428030	NM_017946.4(FKBP14):c.615A>G (p.Thr205=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 645474	NM_017946.4(FKBP14):c.595A>G (p.Ile199Val)	FKBP14-AS1, FKBP14 (I199V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2125023	NM_017946.4(FKBP14):c.591G>T (p.Gly197=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2066341	NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)	FKBP14, FKBP14-AS1 (G197R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GUncertain significance
Select item 945543	NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu)	FKBP14, FKBP14-AS1 (D194E)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 568303	NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn)	FKBP14-AS1, FKBP14 (D194N)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2882996	NM_017946.4(FKBP14):c.576T>C (p.Asp192=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 599393	NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)	FKBP14, FKBP14-AS1 (E191del)	Microsatellite (inframe_deletion +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GPathogenic
Select item 1422588	NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp)	FKBP14, FKBP14-AS1 (E191D)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GUncertain significance
Select item 432050	NM_017946.4(FKBP14):c.568_570del (p.Lys190del)	FKBP14, FKBP14-AS1 (K190del)	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1302821	NM_017946.4(FKBP14):c.568A>T (p.Lys190Ter)	FKBP14, FKBP14-AS1 (K190*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 935725	NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln)	FKBP14, FKBP14-AS1 (K190Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1575555	NM_017946.4(FKBP14):c.561T>A (p.Ile187=)	FKBP14-AS1, FKBP14	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1058327	NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser)	FKBP14, FKBP14-AS1 (I187S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1647582	NM_017946.4(FKBP14):c.558T>C (p.Asp186=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 838953	NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly)	FKBP14, FKBP14-AS1 (D186G)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1748358	NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn)	FKBP14-AS1, FKBP14 (D186N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1492987	NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr)	FKBP14, FKBP14-AS1 (D186Y)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2034227	NM_017946.4(FKBP14):c.555G>A (p.Glu185=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2532095	NM_017946.4(FKBP14):c.554A>G (p.Glu185Gly)	FKBP14, FKBP14-AS1 (E185G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1423949	NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu)	FKBP14, FKBP14-AS1 (D181E)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2163631	NM_017946.4(FKBP14):c.535CAT[1] (p.His180del)	FKBP14, FKBP14-AS1 (H180del)	Microsatellite (inframe_deletion +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1747169	NM_017946.4(FKBP14):c.537T>A (p.His179Gln)	FKBP14, FKBP14-AS1 (H179Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1489941	NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser)	FKBP14, FKBP14-AS1 (N176S)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 681733	NM_017946.4(FKBP14):c.525G>T (p.Val175=)	FKBP14, FKBP14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1745981	NM_017946.4(FKBP14):c.519G>A (p.Ala173=)	FKBP14-AS1, FKBP14	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1036143	NM_017946.4(FKBP14):c.518C>T (p.Ala173Val)	FKBP14, FKBP14-AS1 (A173V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GUncertain significance
Select item 1745524	NM_017946.4(FKBP14):c.512A>G (p.His171Arg)	FKBP14, FKBP14-AS1 (H171R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 473005	NM_017946.4(FKBP14):c.512A>C (p.His171Pro)	FKBP14, FKBP14-AS1 (H171P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 656477	NM_017946.4(FKBP14):c.511C>T (p.His171Tyr)	FKBP14, FKBP14-AS1 (H171Y)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1037889	NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys)	FKBP14, FKBP14-AS1 (E167K)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 432169	NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)	FKBP14, FKBP14-AS1 (K166del)	Microsatellite (inframe_deletion +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +4 more	GConflicting classifications of pathogenicity
Select item 473003	NM_017946.4(FKBP14):c.495G>A (p.Lys165=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1652363	NM_017946.4(FKBP14):c.486A>C (p.Ala162=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 784843	NM_017946.4(FKBP14):c.486A>T (p.Ala162=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1438589	NM_017946.4(FKBP14):c.478G>A (p.Val160Ile)	FKBP14, FKBP14-AS1 (V160I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1496201	NM_017946.4(FKBP14):c.478-1G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1612367	NM_017946.4(FKBP14):c.478-14C>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2132742	NM_017946.4(FKBP14):c.478-18G>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1476415	NM_017946.4(FKBP14):c.478-19G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2172995	NM_017946.4(FKBP14):c.478-20T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1188054	NM_017946.4(FKBP14):c.478-34A>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260028	NM_017946.4(FKBP14):c.478-115G>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1210482	NM_017946.4(FKBP14):c.478-290C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820175	NM_017946.4(FKBP14):c.477+20A>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1995005	NM_017946.4(FKBP14):c.477+20A>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1622478	NM_017946.4(FKBP14):c.477+15_477+17del	FKBP14, FKBP14-AS1	Microsatellite (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1648027	NM_017946.4(FKBP14):c.477+7T>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 966849	NM_017946.4(FKBP14):c.477+1G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1418873	NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn)	FKBP14, FKBP14-AS1 (K157N)	Single nucleotide variant (non-coding transcript variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1375881	NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer)	FKBP14-AS1, FKBP14	Deletion (nonsense +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1617483	NM_017946.4(FKBP14):c.468T>C (p.Ser156=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 521060	NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer)	FKBP14, FKBP14-AS1	Microsatellite (nonsense +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1060813	NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr)	FKBP14, FKBP14-AS1 (S156Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1740760	NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe)	FKBP14, FKBP14-AS1 (L149F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1063669	NM_017946.4(FKBP14):c.445C>G (p.Leu149Val)	FKBP14, FKBP14-AS1 (L149V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 2964125	NM_017946.4(FKBP14):c.432C>T (p.Phe144=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2913399	NM_017946.4(FKBP14):c.429A>G (p.Ser143=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1898707	NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter)	FKBP14, FKBP14-AS1 (S143*)	Single nucleotide variant (nonsense +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GPathogenic/Likely pathogenic
Select item 1739227	NM_017946.4(FKBP14):c.426A>G (p.Glu142=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 1739075	NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln)	FKBP14, FKBP14-AS1 (E142Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 450975	NM_017946.4(FKBP14):c.410G>C (p.Gly137Ala)	FKBP14, FKBP14-AS1 (G137A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1737734	NM_017946.4(FKBP14):c.408T>C (p.Asn136=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1400405	NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln)	FKBP14, FKBP14-AS1 (R135Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2148907	NM_017946.4(FKBP14):c.393C>A (p.Leu131=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GLikely benign
Select item 853311	NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr)	FKBP14, FKBP14-AS1 (I129T)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1428787	NM_017946.4(FKBP14):c.385A>G (p.Ile129Val)	FKBP14, FKBP14-AS1 (I129V)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 1693949	NM_017946.4(FKBP14):c.376A>G (p.Ile126Val)	FKBP14, FKBP14-AS1 (I126V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1734649	NM_017946.4(FKBP14):c.375G>A (p.Leu125=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 390831	NM_017946.4(FKBP14):c.375G>C (p.Leu125=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1733653	NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly)	FKBP14, FKBP14-AS1 (E122G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 279809	NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	FKBP14, FKBP14-AS1 (E122fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 426476	NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)	FKBP14, FKBP14-AS1 (I119M)	Single nucleotide variant (missense variant +1 more)	Hypotonia +3 more	GUncertain significance
Select item 1970914	NM_017946.4(FKBP14):c.351T>C (p.Gly117=)	FKBP14, FKBP14-AS1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1143605	NM_017946.4(FKBP14):c.350-5G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1161978	NM_017946.4(FKBP14):c.350-6C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1994404	NM_017946.4(FKBP14):c.350-7A>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1389632	NM_017946.4(FKBP14):c.350-8C>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance
Select item 473002	NM_017946.4(FKBP14):c.350-8C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 2158264	NM_017946.4(FKBP14):c.350-13T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2722941	NM_017946.4(FKBP14):c.350-17T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 2100865	NM_017946.4(FKBP14):c.350-18C>T	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 674062	NM_017946.4(FKBP14):c.350-275A>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250474	NM_017946.4(FKBP14):c.349+79T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2149500	NM_017946.4(FKBP14):c.349+18T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 511464	NM_017946.4(FKBP14):c.349+16T>G	FKBP14-AS1, FKBP14	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1203035	NM_017946.4(FKBP14):c.349+15G>A	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type +1 more	GBenign/Likely benign
Select item 1630622	NM_017946.4(FKBP14):c.349+10T>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1137596	NM_017946.4(FKBP14):c.349+10T>G	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GLikely benign
Select item 1020959	NM_017946.4(FKBP14):c.349+6A>C	FKBP14, FKBP14-AS1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic and deafness type	GUncertain significance

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