ClinVar for MedGen (Select 893379) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358433	NM_005045.4(RELN):c.-103TCT[1]	RELN	Microsatellite (5 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 358430	NM_005045.4(RELN):c.-24GGC[6]	RELN	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358429	NM_005045.4(RELN):c.-24GGC[7]	RELN	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358428	NM_005045.4(RELN):c.-24GGC[16] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	Lissencephaly, Recessive	GUncertain significance
Select item 358427	NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 358426	NM_005045.4(RELN):c.-24GGC[14] (p.Met1_Glu2insGlyGlyGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	Lissencephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 358425	NM_005045.4(RELN):c.-24GGC[13] (p.Met1_Glu2insGlyGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358424	NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly)	RELN	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358423	NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly)	RELN	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358398	NM_005045.4(RELN):c.4937-4dup	RELN	Duplication (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 358395	NM_005045.4(RELN):c.5211-8_5211-7dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive	GUncertain significance
Select item 358382	NM_005045.4(RELN):c.9172T>C (p.Leu3058=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 358367	NM_005045.4(RELN):c.*660C>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 358366	NM_005045.4(RELN):c.*803AG[1]	RELN, SLC26A5-AS1	Microsatellite (3 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 318155	NM_002474.3(MYH11):c.3858+507A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GBenign/Likely benign
Select item 318154	NM_002474.3(MYH11):c.3858+567A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318153	NM_002474.3(MYH11):c.3858+616T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GUncertain significance
Select item 318152	NM_017668.3(NDE1):c.*1958TTCCC[3]	MYH11, NDE1	Microsatellite (3 prime UTR variant +1 more)	Lissencephaly, Recessive	GUncertain significance
Select item 318151	NM_002474.3(MYH11):c.3858+789A>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318149	NM_002474.3(MYH11):c.3858+813T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign/Likely benign
Select item 318148	NM_002474.3(MYH11):c.3858+874G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GBenign
Select item 318147	NM_002474.3(MYH11):c.3859-922G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318146	NM_002474.3(MYH11):c.3859-830T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318145	NM_002474.3(MYH11):c.3859-648C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318143	NM_002474.3(MYH11):c.3859-558T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318142	NM_002474.3(MYH11):c.3859-479C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318141	NM_002474.3(MYH11):c.3859-414T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318140	NM_002474.3(MYH11):c.3859-206C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318139	NM_002474.3(MYH11):c.3859-202G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 318137	NM_002474.3(MYH11):c.3859-172T>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +3 more	GBenign
Select item 318135	NM_002474.3(MYH11):c.3859-158G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318133	NM_002474.3(MYH11):c.3859-157_3859-156insG	MYH11, NDE1	Insertion (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318132	NM_002474.3(MYH11):c.3859-170GT[8]	MYH11, NDE1	Microsatellite (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GUncertain significance
Select item 318129	NM_017668.3(NDE1):c.*898del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 318128	NM_017668.3(NDE1):c.*898dup	MYH11, NDE1	Duplication (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 318127	NM_002474.3(MYH11):c.3859-122G>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 318126	NM_002474.3(MYH11):c.3963+44T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318123	NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318122	NM_002474.3(MYH11):c.4116+29A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 318121	NM_002474.3(MYH11):c.4116+52G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly, Recessive +2 more	GUncertain significance
Select item 318120	NM_002474.3(MYH11):c.4116+110C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 318119	NM_002474.3(MYH11):c.4116+111dup	MYH11, NDE1	Duplication (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GUncertain significance
Select item 318115	NM_002474.3(MYH11):c.4117-44C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +5 more	GBenign
Select item 318112	NM_002474.3(MYH11):c.4420G>A (p.Ala1474Thr)	MYH11, NDE1 (A1481T +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318111	NM_002474.3(MYH11):c.4579-5G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318109	NM_002474.3(MYH11):c.4790A>G (p.Gln1597Arg)	MYH11, NDE1 (Q1597R +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +4 more	GUncertain significance
Select item 318105	NM_002474.3(MYH11):c.4821C>T (p.Asp1607=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 318104	NM_002474.3(MYH11):c.4899C>T (p.Ala1633=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 318103	NM_002474.3(MYH11):c.4938G>A (p.Gln1646=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318102	NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 318101	NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)	MYH11, NDE1 (E1749D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 318100	NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 318099	NM_002474.3(MYH11):c.5277C>T (p.Val1759=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 318098	NM_002474.3(MYH11):c.5296-10T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 318097	NM_002474.3(MYH11):c.5296-6C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 318096	NM_002474.3(MYH11):c.5330G>A (p.Arg1777His)	MYH11, NDE1 (R1784H +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +3 more	GUncertain significance
Select item 318095	NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)	MYH11, NDE1 (H1809Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 318094	NM_002474.3(MYH11):c.5421C>T (p.Ala1807=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 318093	NM_002474.3(MYH11):c.5427G>C (p.Lys1809Asn)	MYH11, NDE1 (K1809N +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318092	NM_002474.3(MYH11):c.5614-7G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 318091	NM_002474.3(MYH11):c.5761G>A (p.Val1921Met)	MYH11, NDE1 (V1921M +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318090	NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 318089	NM_002474.3(MYH11):c.5774A>G (p.Lys1925Arg)	MYH11, NDE1 (K1932R +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318088	NM_002474.3(MYH11):c.5823G>A (p.Arg1941=)	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +2 more)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 318085	NM_002474.3(MYH11):c.61_65del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 318083	NM_002474.3(MYH11):c.*228T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318082	NM_002474.3(MYH11):c.*389C>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318080	NM_002474.3(MYH11):c.*476CA[1]	MYH11, NDE1	Microsatellite (3 prime UTR variant +1 more)	Lissencephaly, Recessive +1 more	GUncertain significance
Select item 318078	NM_002474.3(MYH11):c.*519T>C	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318076	NM_002474.3(MYH11):c.*577A>G	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318075	NM_002474.3(MYH11):c.*600G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 318073	NM_002474.3(MYH11):c.*662G>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318072	NM_017668.3(NDE1):c.947+6421_947+6422del	MYH11, NDE1	Deletion (3 prime UTR variant +1 more)	Lissencephaly, Recessive	GUncertain significance
Select item 318071	NM_002474.3(MYH11):c.*764G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318070	NM_002474.3(MYH11):c.*804C>T	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Aortic aneurysm, familial thoracic 4 +2 more	GUncertain significance
Select item 318069	NM_017668.3(NDE1):c.947+6270C>T	NDE1	Single nucleotide variant (intron variant)	Lissencephaly, Recessive	GUncertain significance
Select item 318035	NM_001143979.2(NDE1):c.-165-12_-165-9del	NDE1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 318031	NM_001143979.2(NDE1):c.-261_-258del	NDE1	Deletion (5 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 318025	NM_001143979.2(NDE1):c.-512dup	NDE1	Duplication (5 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 318023	NM_001143979.2(NDE1):c.-535del	NDE1	Deletion (5 prime UTR variant)	Lissencephaly, Recessive	GLikely benign
Select item 318017	NM_001143979.1(NDE1):c.-741dup	MIR484, NDE1	Duplication (non-coding transcript variant)	Lissencephaly, Recessive	GUncertain significance
Select item 281452	NM_005045.4(RELN):c.5211-7dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 263877	NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)	MYH11, NDE1 (A1561T +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 257262	NM_002474.3(MYH11):c.5786+11C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201089	NM_002474.3(MYH11):c.5585G>A (p.Arg1862His)	MYH11, NDE1 (R1862H +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated thoracic aortic aneurysm +4 more	GConflicting classifications of pathogenicity
Select item 201071	NM_002474.3(MYH11):c.4016G>A (p.Arg1339His)	MYH11, NDE1 (R1339H +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 201068	NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)	MYH11, NDE1 (V1310M +1 more)	Single nucleotide variant (missense variant +1 more)	Lissencephaly 4 +9 more	GConflicting classifications of pathogenicity
Select item 201037	NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)	MYH11, NDE1 (V1759I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 201036	NM_002474.3(MYH11):c.5172-13G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 201031	NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile)	MYH11, NDE1 (L1317I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 197069	NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val)	NDE1, MYH11 (A1846V +1 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +6 more	GConflicting classifications of pathogenicity
Select item 197068	NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 138357	NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 138350	NM_002474.3(MYH11):c.5296-4C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 138347	NM_002474.3(MYH11):c.4579-13G>A	MYH11, NDE1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 138343	NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 138342	NM_002474.3(MYH11):c.4242T>G (p.Ala1414=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +8 more	GBenign
Select item 138340	NM_002474.3(MYH11):c.4116+12G>A	MYH11, NDE1	Single nucleotide variant (3 prime UTR variant +1 more)	Lissencephaly 4 +4 more	GBenign/Likely benign
Select item 138339	NM_002474.3(MYH11):c.4095C>T (p.His1365=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 138338	NM_002474.3(MYH11):c.3967C>T (p.Leu1323=)	NDE1, MYH11	Single nucleotide variant (synonymous variant +1 more)	Lissencephaly 4 +6 more	GBenign

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