5351[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 150812	GRCh38/hg38 1p36.22(chr1:11737130-12006139)x3	AGTRAP, C1orf167 +28 more	Copy number gain	See cases	GUncertain significance
Select item 57722	GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	AGTRAP, C1orf167 +62 more	Copy number gain	See cases	GUncertain significance
Select item 1271435	NC_000001.11:g.11934495G>A	PLOD1	Single nucleotide variant	not provided	GBenign
Select item 1261086	NC_000001.11:g.11934559G>C	PLOD1	Single nucleotide variant	not provided	GBenign
Select item 1244005	NC_000001.11:g.11934630T>C	PLOD1	Single nucleotide variant	not provided	GBenign
Select item 292249	NM_000302.3(PLOD1):c.-77G>A	PLOD1	Single nucleotide variant	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GConflicting classifications of pathogenicity
Select item 292250	NM_000302.3(PLOD1):c.-64C>G	PLOD1	Single nucleotide variant	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292251	NM_000302.4(PLOD1):c.-61C>T	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292252	NM_000302.4(PLOD1):c.-58G>A	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 292253	NM_000302.4(PLOD1):c.-39G>T	PLOD1	Single nucleotide variant (5 prime UTR variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 511895	NM_000302.4(PLOD1):c.-28del	PLOD1	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 512631	NM_000302.4(PLOD1):c.-27C>A	PLOD1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2577264	NM_000302.4(PLOD1):c.-19C>T	PLOD1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 422689	NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)	PLOD1 (M1fs)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +3 more	GUncertain significance
Select item 993527	NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)	PLOD1 (R2W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2776602	NM_000302.4(PLOD1):c.9C>T (p.Pro3=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2825739	NM_000302.4(PLOD1):c.10C>T (p.Leu4=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1895815	NM_000302.4(PLOD1):c.25C>T (p.Leu9=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 841701	NM_000302.4(PLOD1):c.30G>A (p.Leu10=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 264292	NM_000302.4(PLOD1):c.30G>C (p.Leu10=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1575875	NM_000302.4(PLOD1):c.33C>T (p.Gly11=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1708797	NM_000302.4(PLOD1):c.34T>C (p.Trp12Arg)	PLOD1 (W12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624639	NM_000302.4(PLOD1):c.48C>T (p.Ala16=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 459820	NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr)	PLOD1 (A18T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1081323	NM_000302.4(PLOD1):c.54G>A (p.Ala18=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1749756	NM_000302.4(PLOD1):c.57G>A (p.Lys19=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	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 2100839	NM_000302.4(PLOD1):c.62A>G (p.Asp21Gly)	PLOD1 (D21G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 849224	NM_000302.4(PLOD1):c.63C>G (p.Asp21Glu)	PLOD1 (D21E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 2565004	NM_000302.4(PLOD1):c.64G>T (p.Ala22Ser)	PLOD1 (A22S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1757159	NM_000302.4(PLOD1):c.70C>A (p.Pro24Thr)	PLOD1 (P24T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1702261	NM_000302.4(PLOD1):c.70C>T (p.Pro24Ser)	PLOD1 (P24S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1044112	NM_000302.4(PLOD1):c.71C>T (p.Pro24Leu)	PLOD1 (P24L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 930584	NM_000302.4(PLOD1):c.71C>G (p.Pro24Arg)	PLOD1 (P24R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
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 1157415	NM_000302.4(PLOD1):c.72G>A (p.Pro24=)	PLOD1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1758732	NM_000302.4(PLOD1):c.73G>C (p.Glu25Gln)	PLOD1 (E25Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1311895	NM_000302.4(PLOD1):c.74A>C (p.Glu25Ala)	PLOD1 (E25A)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 1563613	NM_000302.4(PLOD1):c.76+10C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2726184	NM_000302.4(PLOD1):c.76+11G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2714275	NM_000302.4(PLOD1):c.76+13A>C	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 2150078	NM_000302.4(PLOD1):c.76+15G>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 506373	NM_000302.4(PLOD1):c.76+17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more	GBenign/Likely benign
Select item 2762710	NM_000302.4(PLOD1):c.76+22del	PLOD1	Deletion (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GBenign
Select item 2700597	NM_000302.4(PLOD1):c.76+19G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2852577	NM_000302.4(PLOD1):c.76+20G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1216655	NM_000302.4(PLOD1):c.76+93T>C	PLOD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683700	NM_000302.4(PLOD1):c.76+264A>G	PLOD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811539	NM_000302.4(PLOD1):c.77-3407C>T	LOC112577486, PLOD1 (H42Y)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GBenign
Select item 994332	NM_000302.4(PLOD1):c.77-3403T>C	LOC112577486, PLOD1 (L43P)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 3031607	NM_000302.4(PLOD1):c.77-3395G>T	LOC112577486, PLOD1 (D46Y)	Single nucleotide variant (missense variant +1 more)	PLOD1-related disorder	GLikely benign
Select item 1679508	NM_000302.4(PLOD1):c.77-3370G>A	LOC112577486, PLOD1 (R54Q)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GBenign/Likely benign
Select item 1285073	NM_000302.4(PLOD1):c.77-3358C>T	LOC112577486, PLOD1 (S58F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1330603	NM_000302.4(PLOD1):c.77-3351T>C	LOC112577486, PLOD1	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	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 1331080	NM_000302.4(PLOD1):c.77-3320G>C	LOC112577486, PLOD1 (G71R)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 1218149	NM_000302.4(PLOD1):c.77-216C>T	PLOD1	Single nucleotide variant (intron variant)	not provided	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 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 2783568	NM_000302.4(PLOD1):c.77-19T>C	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 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 1544618	NM_000302.4(PLOD1):c.77-17C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2170671	NM_000302.4(PLOD1):c.77-16C>T	PLOD1	Single nucleotide variant (intron 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 2790375	NM_000302.4(PLOD1):c.77-13C>T	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 459827	NM_000302.4(PLOD1):c.77-7T>C	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2782274	NM_000302.4(PLOD1):c.77-6C>G	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2488064	NM_000302.4(PLOD1):c.77A>G (p.Asp26Gly)	PLOD1 (D73G +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1518363	NM_000302.4(PLOD1):c.80A>G (p.Asn27Ser)	PLOD1 (N27S +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GUncertain significance
Select item 592020	NM_000302.4(PLOD1):c.84_105dup (p.Lys36delinsPheSerProHisGlyGlyHisTer)	PLOD1	Duplication (nonsense)	not provided	GUncertain significance
Select item 966563	NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)	PLOD1 (L75I +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2849163	NM_000302.4(PLOD1):c.86T>A (p.Leu29Ter)	PLOD1 (L29* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 292277	NM_000302.4(PLOD1):c.89T>C (p.Val30Ala)	PLOD1 (V30A +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GUncertain significance
Select item 2831298	NM_000302.4(PLOD1):c.90C>T (p.Val30=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 264381	NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)	PLOD1 (T32M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1960945	NM_000302.4(PLOD1):c.96G>A (p.Thr32=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 2276632	NM_000302.4(PLOD1):c.103A>G (p.Thr35Ala)	PLOD1 (T35A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance

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