"PreventionGenetics, part of Exact Sciences"[submitter] AND "DNM1"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630523	NM_004408.4(DNM1):c.179G>A (p.Gly60Glu)	DNM1, LOC113839516 (G60E)	Single nucleotide variant (missense variant)	DNM1-related disorder	GLikely pathogenic
Select item 493492	NM_004408.4(DNM1):c.235+8C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +2 more	GLikely benign
Select item 959310	NM_004408.4(DNM1):c.261G>A (p.Lys87=)	DNM1, LOC113839516	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 755812	NM_004408.4(DNM1):c.589+10C>T	DNM1, LOC113839516	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 31 +1 more	GLikely benign
Select item 392616	NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)	DNM1 (G202R)	Single nucleotide variant (missense variant)	DNM1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1478262	NM_004408.4(DNM1):c.812G>A (p.Arg271His)	DNM1 (R271H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +2 more	GUncertain significance
Select item 389002	NM_004408.4(DNM1):c.849+6C>T	DNM1	Single nucleotide variant (intron variant)	DNM1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2163219	NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)	DNM1 (R297W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31 +1 more	GUncertain significance
Select item 1647833	NM_004408.4(DNM1):c.1128+4G>A	DNM1	Single nucleotide variant (intron variant)	DNM1-related disorder +1 more	GBenign/Likely benign
Select item 385288	NM_004408.4(DNM1):c.1200G>A (p.Thr400=)	DNM1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3058667	NM_004408.4(DNM1):c.1275C>G (p.Leu425=)	DNM1	Single nucleotide variant (synonymous variant +1 more)	DNM1-related disorder	GLikely benign
Select item 1555258	NM_004408.4(DNM1):c.1335+7C>T	DNM1	Single nucleotide variant (intron variant)	DNM1-related disorder +1 more	GLikely benign
Select item 3030178	NM_004408.4(DNM1):c.1335+1637C>T	DNM1	Single nucleotide variant (intron variant)	DNM1-related disorder	GLikely benign
Select item 2633454	NM_004408.4(DNM1):c.1429C>A (p.Leu477Ile)	DNM1 (L477I)	Single nucleotide variant (missense variant)	DNM1-related disorder	GUncertain significance
Select item 506647	NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser)	DNM1 (N529S)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely benign
Select item 383871	NM_004408.4(DNM1):c.1764C>T (p.Leu588=)	DNM1	Single nucleotide variant (synonymous variant)	DNM1-related disorder +3 more	GBenign
Select item 387422	NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)	DNM1, LOC130002699 (S807C)	Single nucleotide variant (missense variant)	DNM1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 476064	NM_004408.4(DNM1):c.2430G>A (p.Gly810=)	LOC130002699, DNM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 3048984	NM_004408.4(DNM1):c.2433G>T (p.Gly811=)	DNM1, LOC130002699	Single nucleotide variant (synonymous variant)	DNM1-related disorder	GLikely benign
Select item 3034610	NM_004408.4(DNM1):c.2535-1522G>A	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	DNM1-related disorder	GLikely benign
Select item 3032074	NM_004408.4(DNM1):c.2535-1522G>C	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	DNM1-related disorder	GLikely benign
Select item 476065	NM_004408.4(DNM1):c.2541G>A (p.Ser847=)	DNM1	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 590032	NM_004408.4(DNM1):c.2582C>A (p.Pro861His)	DNM1 (P861H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

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Items: 23