dermis hylobia - ClinVar - NCBI

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The following term was not found in ClinVar: hylobia.
Showing results for Derris hylobia. Your search for Derris hylobia retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069199	NC_000001.10:g.(183205740_183206486)_(183207557_183208498)del	LAMC2	Deletion	Epidermolysis bullosa, junctional 3B, severe	GPathogenic
Select item 208756	NM_007046.4(EMILIN1):c.64G>A (p.Ala22Thr)	EMILIN1 (A22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 7799	NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys)	GALNT3 (T272K)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GPathogenic
Select item 17213	NM_000090.4(COL3A1):c.2931+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 17226	NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu)	COL3A1 (G1101E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 333093	NM_000393.5(COL5A2):c.*2131T>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 333094	NM_000393.5(COL5A2):c.*2062G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333097	NM_000393.5(COL5A2):c.*1960A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333098	NM_000393.5(COL5A2):c.*1904C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333100	NM_000393.5(COL5A2):c.*1852T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333101	NM_000393.5(COL5A2):c.*1764G>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GConflicting classifications of pathogenicity
Select item 333102	NM_000393.5(COL5A2):c.*1669G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +2 more	GBenign/Likely benign
Select item 333106	NM_000393.5(COL5A2):c.*1402T>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333107	NM_000393.5(COL5A2):c.*1400A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333108	NM_000393.5(COL5A2):c.*1379A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 898140	NM_000393.5(COL5A2):c.*1331C>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GLikely benign
Select item 333109	NM_000393.5(COL5A2):c.*1165G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 333110	NM_000393.5(COL5A2):c.*1076G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333113	NM_000393.5(COL5A2):c.*798A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333116	NM_000393.5(COL5A2):c.*639G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +1 more	GBenign/Likely benign
Select item 333119	NM_000393.5(COL5A2):c.*561T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899248	NM_000393.5(COL5A2):c.*525A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333120	NM_000393.5(COL5A2):c.*515C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899249	NM_000393.5(COL5A2):c.*476T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333121	NM_000393.5(COL5A2):c.*446G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 899250	NM_000393.5(COL5A2):c.*436A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2	GBenign
Select item 333122	NM_000393.5(COL5A2):c.*423C>T	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333124	NM_000393.5(COL5A2):c.*392T>C	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333125	NM_000393.5(COL5A2):c.*391A>G	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GBenign/Likely benign
Select item 333126	NM_000393.5(COL5A2):c.*298G>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 333129	NM_000393.5(COL5A2):c.*46C>A	COL5A2	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome type 7A +2 more	GBenign/Likely benign
Select item 459646	Single allele	COL5A2	Duplication	Ehlers-Danlos syndrome, classic type	GUncertain significance
Select item 1662494	NM_000393.5(COL5A2):c.4497G>A (p.Val1499=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213087	NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu)	COL5A2 (V1499L)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 2838703	NM_000393.5(COL5A2):c.4478T>C (p.Ile1493Thr)	COL5A2 (I1493T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2846271	NM_000393.5(COL5A2):c.4476A>C (p.Glu1492Asp)	COL5A2 (E1492D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 408282	NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile)	COL5A2 (V1491I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 237778	NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1212833	NM_000393.5(COL5A2):c.4468G>A (p.Gly1490Ser)	COL5A2 (G1490S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1300985	NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GBenign/Likely benign
Select item 1139272	NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=)	COL5A2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1053096	NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro)	COL5A2 (T1485P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213132	NM_000393.5(COL5A2):c.4451G>A (p.Gly1484Asp)	COL5A2 (G1484D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GUncertain significance
Select item 213086	NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)	COL5A2 (G1484S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 1548103	NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 136959	NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 2 +6 more	GBenign/Likely benign
Select item 377738	NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2134192	NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1346998	NM_000393.5(COL5A2):c.4427A>G (p.Asp1476Gly)	COL5A2 (D1476G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1740504	NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)	COL5A2 (I1475T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 1402421	NM_000393.5(COL5A2):c.4420A>G (p.Ile1474Val)	COL5A2 (I1474V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1652046	NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 946904	NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His)	COL5A2 (R1471H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1036239	NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys)	COL5A2 (R1471C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 264358	NM_000393.5(COL5A2):c.4409C>T (p.Ala1470Val)	COL5A2 (A1470V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1398634	NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr)	COL5A2 (A1470T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 519691	NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp)	COL5A2 (N1468D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2910051	NM_000393.5(COL5A2):c.4400A>G (p.Gln1467Arg)	COL5A2 (Q1467R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2862588	NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 136958	NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=)	COL5A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 136957	NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +7 more	GBenign/Likely benign
Select item 1037135	NM_000393.5(COL5A2):c.4388A>G (p.Glu1463Gly)	COL5A2 (E1463G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 513408	NM_000393.5(COL5A2):c.4383C>G (p.Val1461=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GLikely benign
Select item 1935315	NM_000393.5(COL5A2):c.4379C>T (p.Thr1460Ile)	COL5A2 (T1460I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1059133	NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met)	COL5A2 (V1457M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 237777	NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys)	COL5A2 (N1454K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 213130	NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln)	COL5A2 (R1453Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 577649	NM_000393.5(COL5A2):c.4357C>T (p.Arg1453Trp)	COL5A2 (R1453W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 964580	NM_000393.5(COL5A2):c.4354-6T>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1659718	NM_000393.5(COL5A2):c.4354-20A>G	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2889290	NM_000393.5(COL5A2):c.4353+20C>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2156046	NM_000393.5(COL5A2):c.4353+16T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1656327	NM_000393.5(COL5A2):c.4353+15A>T	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1950572	NM_000393.5(COL5A2):c.4353+14G>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2144645	NM_000393.5(COL5A2):c.4353+13T>A	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1090825	NM_000393.5(COL5A2):c.4353+9T>C	COL5A2	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 390344	NM_000393.5(COL5A2):c.4353+8C>G	COL5A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1716483	NM_000393.5(COL5A2):c.4349G>T (p.Cys1450Phe)	COL5A2 (C1450F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1421907	NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn)	COL5A2 (T1449N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 333130	NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile)	COL5A2 (V1445I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GConflicting classifications of pathogenicity
Select item 2904755	NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 1110242	NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 213129	NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln)	COL5A2 (R1442Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702230	NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp)	COL5A2 (R1442W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +2 more	GConflicting classifications of pathogenicity
Select item 450419	NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser)	COL5A2 (R1440S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 264388	NM_000393.5(COL5A2):c.4316T>C (p.Ile1439Thr)	COL5A2 (I1439T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2850222	NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 408285	NM_000393.5(COL5A2):c.4307A>G (p.Glu1436Gly)	COL5A2 (E1436G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2692926	NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 518426	NM_000393.5(COL5A2):c.4298del (p.Ile1433fs)	COL5A2 (I1433fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome, classic type	GPathogenic
Select item 1496249	NM_000393.5(COL5A2):c.4297A>T (p.Ile1433Phe)	COL5A2 (I1433F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 1037755	NM_000393.5(COL5A2):c.4295A>G (p.Asp1432Gly)	COL5A2 (D1432G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GUncertain significance
Select item 213128	NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)	COL5A2 (D1432V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 1739366	NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GLikely benign
Select item 2760848	NM_000393.5(COL5A2):c.4283C>T (p.Ala1428Val)	COL5A2 (A1428V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 1	GUncertain significance
Select item 2990794	NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 755639	NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1	GLikely benign
Select item 2576814	NM_000393.5(COL5A2):c.4241A>G (p.Asp1414Gly)	COL5A2 (D1414G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 213127	NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)	COL5A2 (D1414N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +6 more	GBenign/Likely benign
Select item 1553988	NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=)	COL5A2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, classic type, 1 +1 more	GBenign/Likely benign

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