ClinVar for MedGen (Select 75672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892121	NM_000302.4(PLOD1):c.582G>C (p.Glu194Asp)	PLOD1 (E194D +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3780445	NM_000302.4(PLOD1):c.742-2A>G	PLOD1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3730806	NM_000302.4(PLOD1):c.1755+17_1755+18dup	PLOD1	Duplication (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3730234	NM_000302.4(PLOD1):c.168+13C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3729803	NM_000302.4(PLOD1):c.1202+14G>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3724735	NM_000302.4(PLOD1):c.742-19C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3722874	NM_000302.4(PLOD1):c.2115G>C (p.Thr705=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3706477	NM_000302.4(PLOD1):c.12G>T (p.Leu4=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3705913	NM_000302.4(PLOD1):c.1203-18G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3699468	NM_000302.4(PLOD1):c.843+9G>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3697202	NM_000302.4(PLOD1):c.1658C>A (p.Pro553Gln)	PLOD1 (P553Q +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3696966	NM_000302.4(PLOD1):c.1797T>C (p.Ile599=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3692381	NM_000302.4(PLOD1):c.1902+19T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3689933	NM_000302.4(PLOD1):c.1569G>T (p.Val523=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3686059	NM_000302.4(PLOD1):c.1971T>A (p.His657Gln)	PLOD1 (H704Q +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3686010	NM_000302.4(PLOD1):c.1098-18G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3682775	NM_000302.4(PLOD1):c.1995C>T (p.Asn665=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3676507	NM_000302.4(PLOD1):c.1188G>A (p.Leu396=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3676407	NM_000302.4(PLOD1):c.2133C>A (p.Leu711=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3674925	NM_000302.4(PLOD1):c.1302C>A (p.Tyr434Ter)	PLOD1 (Y434* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3669069	NM_000302.4(PLOD1):c.643+16G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3667497	NM_000302.4(PLOD1):c.675T>C (p.His225=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3667487	NM_000302.4(PLOD1):c.3G>A (p.Met1Ile)	PLOD1 (M1I)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3666501	NM_000302.4(PLOD1):c.1329-5C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3663828	NM_000302.4(PLOD1):c.1585-8T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3662832	NM_000302.4(PLOD1):c.171G>C (p.Ala57=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3652814	NM_000302.4(PLOD1):c.1755+20G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3651979	NM_000302.4(PLOD1):c.950A>G (p.His317Arg)	PLOD1 (H317R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3651595	NM_000302.4(PLOD1):c.1671G>A (p.Trp557Ter)	PLOD1 (W604* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3646944	NM_000302.4(PLOD1):c.1902+16G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3645994	NM_000302.4(PLOD1):c.1097+7T>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3645179	NM_000302.4(PLOD1):c.897G>T (p.Pro299=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3641887	NM_000302.4(PLOD1):c.76+2T>G	PLOD1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3639859	NM_000302.4(PLOD1):c.580-7C>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3639508	NM_000302.4(PLOD1):c.1602dup (p.Ile535fs)	PLOD1 (I582fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3639086	NM_000302.4(PLOD1):c.1564dup (p.Glu522fs)	PLOD1 (E569fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3638785	NM_000302.4(PLOD1):c.492C>T (p.Leu164=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3638668	NM_000302.4(PLOD1):c.1914C>T (p.Asp638=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3637593	NM_000302.4(PLOD1):c.1903-16C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3633188	NM_000302.4(PLOD1):c.468C>T (p.Gly156=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3626856	NM_000302.4(PLOD1):c.618C>T (p.Ile206=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3622409	NM_000302.4(PLOD1):c.216A>T (p.Ala72=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3620038	NM_000302.4(PLOD1):c.267A>G (p.Ala89=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3615974	NM_000302.4(PLOD1):c.324G>A (p.Ser108=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3615540	NM_000302.4(PLOD1):c.1471-18C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3615224	NM_000302.4(PLOD1):c.844-8T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3614840	NM_000302.4(PLOD1):c.1261G>T (p.Ala421Ser)	PLOD1 (A421S +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3607699	NM_000302.4(PLOD1):c.360C>T (p.Ala120=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3605969	NM_000302.4(PLOD1):c.2148C>T (p.Gly716=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3580991	NM_000302.4(PLOD1):c.1934dup (p.Tyr645Ter)	PLOD1 (Y692* +1 more)	Duplication (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3580869	NM_000302.4(PLOD1):c.1780G>T (p.Glu594Ter)	PLOD1 (E641* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3580183	NM_000302.4(PLOD1):c.1741_1742del (p.Leu581fs)	PLOD1 (L628fs +1 more)	Microsatellite (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579974	NM_000302.4(PLOD1):c.1589G>A (p.Trp530Ter)	PLOD1 (W530* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579912	NM_000302.4(PLOD1):c.1581del (p.Glu528fs)	PLOD1 (E528fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579395	NM_000302.4(PLOD1):c.1465C>T (p.Gln489Ter)	PLOD1 (Q489* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579334	NM_000302.4(PLOD1):c.1262del (p.Ala421fs)	PLOD1 (A421fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579193	NM_000302.4(PLOD1):c.1037del (p.Ser346fs)	PLOD1 (S346fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3579125	NM_000302.4(PLOD1):c.843+1del	PLOD1	Deletion (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3578996	NM_000302.4(PLOD1):c.415G>T (p.Glu139Ter)	PLOD1 (E139* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3578862	NM_000302.4(PLOD1):c.302+1G>T	PLOD1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3578809	NM_000302.4(PLOD1):c.82del (p.Leu28fs)	PLOD1 (L75fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3576542	NM_000302.4(PLOD1):c.76+1G>T	PLOD1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3376458	NM_000302.4(PLOD1):c.2054A>G (p.Tyr685Cys)	PLOD1 (Y685C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3370423	NM_000302.4(PLOD1):c.1677dup (p.Ile560fs)	PLOD1 (I560fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3342063	NM_000302.4(PLOD1):c.698_699insCCTCTGGCCTA (p.Asp234fs)	PLOD1 (D234fs +1 more)	Insertion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GPathogenic/Likely pathogenic
Select item 3247672	NC_000001.10:g.(?_12016954)_(12018724_?)dup	PLOD1	Duplication	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3247671	NC_000001.10:g.(?_12016954)_(12020844_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3247670	NC_000001.10:g.(?_12008013)_(12014970_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3247667	NC_000001.10:g.(?_12026288)_(12030937_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3247666	NC_000001.10:g.(?_12030707)_(12030937_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3247665	NC_000001.11:g.(?_11960646)_(11960767_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3247664	NC_000001.10:g.(?_11994837)_(11994932_?)del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 3242113	NM_000302.4(PLOD1):c.282_283del (p.Val95fs)	PLOD1 (V142fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 3024052	NM_000302.4(PLOD1):c.168+9T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3022011	NM_000302.4(PLOD1):c.1179G>A (p.Leu393=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3019745	NM_000302.4(PLOD1):c.1752C>T (p.Asn584=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3019743	NM_000302.4(PLOD1):c.1710G>A (p.Val570=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3019252	NM_000302.4(PLOD1):c.1470+18A>G	PLOD1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3018613	NM_000302.4(PLOD1):c.467-14C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3017355	NM_000302.4(PLOD1):c.1806C>T (p.His602=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3016367	NM_000302.4(PLOD1):c.302+6_302+7insCTTTGCA	PLOD1	Insertion (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3015845	NM_000302.4(PLOD1):c.60C>T (p.Gly20=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3015246	NM_000302.4(PLOD1):c.651C>G (p.Val217=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3015209	NM_000302.4(PLOD1):c.825C>T (p.Arg275=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3014436	NM_000302.4(PLOD1):c.580-13T>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3012313	NM_000302.4(PLOD1):c.77-20A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3012290	NM_000302.4(PLOD1):c.643+12C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3010642	NM_000302.4(PLOD1):c.955C>A (p.Arg319=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 3009570	NM_000302.4(PLOD1):c.429G>A (p.Pro143=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3008870	NM_000302.4(PLOD1):c.1329-13G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3007067	NM_000302.4(PLOD1):c.741+16C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3006056	NM_000302.4(PLOD1):c.2157C>T (p.Tyr719=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3002326	NM_000302.4(PLOD1):c.1098-20C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 3001446	NM_000302.4(PLOD1):c.1328+16G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2998748	NM_000302.4(PLOD1):c.2178T>C (p.Asp726=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2996700	NM_000302.4(PLOD1):c.303-17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2995014	NM_000302.4(PLOD1):c.2085C>G (p.Gly695=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 2994487	NM_000302.4(PLOD1):c.315G>A (p.Leu105=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2993696	NM_000302.4(PLOD1):c.1097+7T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2986695	NM_000302.4(PLOD1):c.580-12T>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign

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