ClinVar for MedGen (Select 75672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	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)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	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	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
Select item 2980855	NM_000302.4(PLOD1):c.1584+1G>T	PLOD1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 2979600	NM_000302.4(PLOD1):c.1281C>T (p.Tyr427=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2977131	NM_000302.4(PLOD1):c.1471-13C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2974287	NM_000302.4(PLOD1):c.643+10C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2973191	NM_000302.4(PLOD1):c.579+12T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2972257	NM_000302.4(PLOD1):c.2139C>T (p.Thr713=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2969767	NM_000302.4(PLOD1):c.1585-9T>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2966998	NM_000302.4(PLOD1):c.726C>T (p.Gly242=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2966766	NM_000302.4(PLOD1):c.1903-17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2963996	NM_000302.4(PLOD1):c.976-18C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2962566	NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2960453	NM_000302.4(PLOD1):c.580-4G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2959605	NM_000302.4(PLOD1):c.1585-17CTTCCCA[3]	PLOD1	Microsatellite (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2957936	NM_000302.4(PLOD1):c.1756-1_1767dup	PLOD1	Duplication (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 2955977	NM_000302.4(PLOD1):c.77-20A>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 2921261	NM_000302.4(PLOD1):c.77-3339C>T	LOC112577486, PLOD1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GBenign
Select item 2920921	NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)	PLOD1 (T293S +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2920420	NM_000302.4(PLOD1):c.858C>T (p.Pro286=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2917778	NM_000302.4(PLOD1):c.976-17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2917137	NM_000302.4(PLOD1):c.213G>A (p.Ser71=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2916133	NM_000302.4(PLOD1):c.1884C>T (p.Tyr628=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2914558	NM_000302.4(PLOD1):c.741+13C>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2914557	NM_000302.4(PLOD1):c.741+8G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2914407	NM_000302.4(PLOD1):c.1957C>T (p.Leu653=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2914019	NM_000302.4(PLOD1):c.1773T>C (p.Gly591=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2913799	NM_000302.4(PLOD1):c.72G>T (p.Pro24=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2913655	NM_000302.4(PLOD1):c.1651-19G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2913160	NM_000302.4(PLOD1):c.2031C>T (p.Gly677=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2909206	NM_000302.4(PLOD1):c.77-13C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2908784	NM_000302.4(PLOD1):c.1097+17A>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2908458	NM_000302.4(PLOD1):c.1650+18C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2906174	NM_000302.4(PLOD1):c.1202+9G>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2905958	NM_000302.4(PLOD1):c.423G>A (p.Lys141=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2905901	NM_000302.4(PLOD1):c.644-15C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2904893	NM_000302.4(PLOD1):c.467-6C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2900043	NM_000302.4(PLOD1):c.1584+11G>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2898764	NM_000302.4(PLOD1):c.312G>C (p.Val104=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2897171	NM_000302.4(PLOD1):c.876G>A (p.Val292=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2896481	NM_000302.4(PLOD1):c.466+20G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2896135	NM_000302.4(PLOD1):c.976-14A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2895256	NM_000302.4(PLOD1):c.507C>T (p.Ala169=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2891885	NM_000302.4(PLOD1):c.1650+11T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2890730	NM_000302.4(PLOD1):c.843+11G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2890615	NM_000302.4(PLOD1):c.1470+13C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2888813	NM_000302.4(PLOD1):c.1203-16del	PLOD1	Deletion (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2888406	NM_000302.4(PLOD1):c.1195C>T (p.Gln399Ter)	PLOD1 (Q446* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 2887477	NM_000302.4(PLOD1):c.467-8A>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2886638	NM_000302.4(PLOD1):c.729C>T (p.Asn243=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2885146	NM_000302.4(PLOD1):c.1098-5T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2884759	NM_000302.4(PLOD1):c.1248G>A (p.Ser416=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2883108	NM_000302.4(PLOD1):c.844-13C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2882647	NM_000302.4(PLOD1):c.1903-12G>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2882478	NM_000302.4(PLOD1):c.1614C>T (p.Asn538=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2882061	NM_000302.4(PLOD1):c.580-16A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2881109	NM_000302.4(PLOD1):c.756C>G (p.Tyr252Ter)	PLOD1 (Y252* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 2876991	NM_000302.4(PLOD1):c.942C>G (p.Pro314=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2876576	NM_000302.4(PLOD1):c.2115G>T (p.Thr705=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2876514	NM_000302.4(PLOD1):c.1050G>C (p.Val350=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2875728	NM_000302.4(PLOD1):c.77-17C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2875354	NM_000302.4(PLOD1):c.1202+19C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2872251	NM_000302.4(PLOD1):c.1102C>T (p.Leu368=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2872009	NM_000302.4(PLOD1):c.843+15A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2869329	NM_000302.4(PLOD1):c.76+14G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2867352	NM_000302.4(PLOD1):c.466+13G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2866145	NM_000302.4(PLOD1):c.1585-5C>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2865907	NM_000302.4(PLOD1):c.77-18A>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2865795	NM_000302.4(PLOD1):c.580-7C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2864072	NM_000302.4(PLOD1):c.644-2A>G	PLOD1	Single nucleotide variant (splice acceptor variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely pathogenic
Select item 2863883	NM_000302.4(PLOD1):c.486dup (p.Asn163fs)	PLOD1 (N210fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 2863672	NM_000302.4(PLOD1):c.598C>T (p.Leu200=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2863401	NM_000302.4(PLOD1):c.1471-17G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2861664	NM_000302.4(PLOD1):c.168+16G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2861480	NM_000302.4(PLOD1):c.1650+8C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign

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