11107[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150470	GRCh38/hg38 4q27(chr4:120668638-120827692)x3	LOC129993025, LOC129993026 +6 more	Copy number gain	See cases	GLikely benign
Select item 347426	NM_018699.4(PRDM5):c.*176T>C	PRDM5	Single nucleotide variant (3 prime UTR variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 347427	NM_018699.4(PRDM5):c.*154A>T	PRDM5	Single nucleotide variant (3 prime UTR variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 347428	NM_018699.4(PRDM5):c.*141T>C	PRDM5	Single nucleotide variant (3 prime UTR variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 347429	NM_018699.4(PRDM5):c.*120T>C	PRDM5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1180011	NM_018699.4(PRDM5):c.*4G>A	PRDM5	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2816512	NM_018699.4(PRDM5):c.1890C>T (p.Ser630=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 347430	NM_018699.4(PRDM5):c.1887C>T (p.Asp629=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	Brittle cornea syndrome 1	GUncertain significance
Select item 2450364	NM_018699.4(PRDM5):c.1874A>G (p.His625Arg)	PRDM5 (H559R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3029831	NM_018699.4(PRDM5):c.1872C>A (p.Ile624=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	PRDM5-related condition	GLikely benign
Select item 1781532	NM_018699.4(PRDM5):c.1862T>C (p.Met621Thr)	PRDM5 (M632T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 981043	NM_018699.4(PRDM5):c.1858del (p.His620fs)	PRDM5 (H554fs +3 more)	Deletion (frameshift variant +1 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 391274	NM_018699.4(PRDM5):c.1851C>T (p.Leu617=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2973202	NM_018699.4(PRDM5):c.1848C>T (p.Tyr616=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1315637	NM_018699.4(PRDM5):c.1847A>G (p.Tyr616Cys)	PRDM5 (Y550C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1781006	NM_018699.4(PRDM5):c.1833T>C (p.Phe611=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2626689	NM_018699.4(PRDM5):c.1809A>G (p.Glu603=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2073145	NM_018699.4(PRDM5):c.1805C>G (p.Ala602Gly)	PRDM5 (A602G +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1780456	NM_018699.4(PRDM5):c.1804G>A (p.Ala602Thr)	PRDM5 (A602T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1702269	NM_018699.4(PRDM5):c.1795C>T (p.Arg599Cys)	PRDM5 (R533C +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1493818	NM_018699.4(PRDM5):c.1793A>G (p.Asn598Ser)	PRDM5 (N532S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1780194	NM_018699.4(PRDM5):c.1791C>T (p.Pro597=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1683364	NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)	PRDM5 (H529fs +3 more)	Deletion (frameshift variant +1 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 1779780	NM_018699.4(PRDM5):c.1770A>C (p.Arg590=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 31111	NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter)	PRDM5 (R590* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2791474	NM_018699.4(PRDM5):c.1758A>G (p.Lys586=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1779408	NM_018699.4(PRDM5):c.1751T>A (p.Leu584Gln)	PRDM5 (L518Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1211098	NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr)	PRDM5 (A515T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2911174	NM_018699.4(PRDM5):c.1734T>C (p.Cys578=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790990	NM_018699.4(PRDM5):c.1729-17C>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820543	NM_018699.4(PRDM5):c.1729-19G>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671077	NM_018699.4(PRDM5):c.1728+286G>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252845	NM_018699.4(PRDM5):c.1728+88_1728+89insTA	PRDM5	Insertion (intron variant)	not provided	GBenign
Select item 2993006	NM_018699.4(PRDM5):c.1728+18del	PRDM5	Deletion (intron variant)	not provided	GBenign
Select item 2975324	NM_018699.4(PRDM5):c.1728+18T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000662	NM_018699.4(PRDM5):c.1728+13T>G	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957659	NM_018699.4(PRDM5):c.1728+10G>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763617	NM_018699.4(PRDM5):c.1728+7T>G	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2450367	NM_018699.4(PRDM5):c.1725T>G (p.Cys575Trp)	PRDM5 (C575W +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 347431	NM_018699.4(PRDM5):c.1722G>A (p.Gln574=)	PRDM5	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2758782	NM_018699.4(PRDM5):c.1713G>A (p.Lys571=)	PRDM5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1778391	NM_018699.4(PRDM5):c.1703C>A (p.Thr568Asn)	PRDM5 (T568N +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2192809	NM_018699.4(PRDM5):c.1698G>T (p.Thr566=)	PRDM5	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1566577	NM_018699.4(PRDM5):c.1698G>A (p.Thr566=)	PRDM5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1778250	NM_018699.4(PRDM5):c.1697C>T (p.Thr566Met)	PRDM5 (T535M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3227141	NM_018699.4(PRDM5):c.1692G>A (p.Lys564=)	PRDM5	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 1899424	NM_018699.4(PRDM5):c.1672C>T (p.Arg558Ter)	PRDM5 (A498V +3 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1777575	NM_018699.4(PRDM5):c.1666C>T (p.Gln556Ter)	PRDM5 (Q556* +3 more)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 1777299	NM_018699.4(PRDM5):c.1653C>T (p.Ser551=)	PRDM5 (Q492*)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 194550	NM_018699.4(PRDM5):c.1652G>A (p.Ser551Asn)	PRDM5 (S551N +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1677171	NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)	PRDM5 (C519* +3 more)	Single nucleotide variant (nonsense +2 more)	Brittle cornea syndrome 2	GLikely pathogenic
Select item 1534542	NM_018699.4(PRDM5):c.1644A>T (p.Ser548=)	PRDM5 (R489*)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1777054	NM_018699.4(PRDM5):c.1641C>T (p.Cys547=)	PRDM5 (L488F)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1776892	NM_018699.4(PRDM5):c.1634A>T (p.Tyr545Phe)	PRDM5 (Y545F +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 347432	NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His)	PRDM5 (Y545H +3 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1776863	NM_018699.4(PRDM5):c.1632G>T (p.Pro544=)	PRDM5 (V485L)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 390578	NM_018699.4(PRDM5):c.1632G>A (p.Pro544=)	PRDM5 (V485I)	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1776835	NM_018699.4(PRDM5):c.1631C>G (p.Pro544Arg)	PRDM5 (P513R +2 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 2993503	NM_018699.4(PRDM5):c.1629G>A (p.Lys543=)	PRDM5 (A484T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2906273	NM_018699.4(PRDM5):c.1624-10T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1948972	NM_018699.4(PRDM5):c.1624-11G>T	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796881	NM_018699.4(PRDM5):c.1624-12T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796626	NM_018699.4(PRDM5):c.1624-13_1624-12del	PRDM5	Deletion (intron variant)	not provided	GLikely benign
Select item 1201640	NM_018699.4(PRDM5):c.1624-200C>T	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669470	NM_018699.4(PRDM5):c.1624-330C>T	PRDM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669469	NM_018699.4(PRDM5):c.1624-339T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2751340	NM_018699.4(PRDM5):c.1623+16G>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778945	NM_018699.4(PRDM5):c.1623+14_1623+15del	PRDM5	Deletion (intron variant)	not provided	GLikely benign
Select item 1923700	NM_018699.4(PRDM5):c.1623+12T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955372	NM_018699.4(PRDM5):c.1623+11A>T	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073007	NM_018699.4(PRDM5):c.1623+10T>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 347433	NM_018699.4(PRDM5):c.1623+8T>C	PRDM5	Single nucleotide variant (intron variant)	Brittle cornea syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1318636	NM_018699.4(PRDM5):c.1613C>T (p.Thr538Ile)	PRDM5 (T507I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1776382	NM_018699.4(PRDM5):c.1610G>A (p.Arg537His)	PRDM5 (R548H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776348	NM_018699.4(PRDM5):c.1609C>T (p.Arg537Cys)	PRDM5 (R506C +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1702268	NM_018699.4(PRDM5):c.1609C>A (p.Arg537Ser)	PRDM5 (R506S +2 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 288949	NM_018699.4(PRDM5):c.1605C>T (p.His535=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1775567	NM_018699.4(PRDM5):c.1575A>G (p.Gly525=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2993595	NM_018699.4(PRDM5):c.1569A>G (p.Glu523=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1775390	NM_018699.4(PRDM5):c.1566T>C (p.Cys522=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2980135	NM_018699.4(PRDM5):c.1554A>G (p.Gln518=)	PRDM5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1320699	NM_018699.4(PRDM5):c.1550A>G (p.Tyr517Cys)	PRDM5 (Y486C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 740978	NM_018699.4(PRDM5):c.1548C>T (p.Pro516=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2450360	NM_018699.4(PRDM5):c.1542G>A (p.Glu514=)	PRDM5	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1774757	NM_018699.4(PRDM5):c.1538G>A (p.Gly513Asp)	PRDM5 (G482D +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 902559	NM_018699.4(PRDM5):c.1538-5T>G	PRDM5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 683711	NM_018699.4(PRDM5):c.1538-287T>G	PRDM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297235	NM_018699.4(PRDM5):c.1537+144C>T	PRDM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2707654	NM_018699.4(PRDM5):c.1537+19G>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973450	NM_018699.4(PRDM5):c.1537+14A>G	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764067	NM_018699.4(PRDM5):c.1537+13T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958612	NM_018699.4(PRDM5):c.1537+12G>A	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732941	NM_018699.4(PRDM5):c.1537+10T>C	PRDM5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847253	NM_018699.4(PRDM5):c.1532del (p.His511fs)	PRDM5 (H480fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2836049	NM_018699.4(PRDM5):c.1527G>C (p.Arg509=)	PRDM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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