Related gene-specific medical variations for Gene (Select 5885) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361707	NM_006265.3(RAD21):c.510A>G (p.Ile170Met)	RAD21 (I170M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361510	NM_006265.3(RAD21):c.1722_1723del (p.Gly575fs)	RAD21 (G575fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3361201	NM_006265.3(RAD21):c.1121C>G (p.Ser374Cys)	RAD21 (S374C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359867	NM_006265.3(RAD21):c.1563_1565del (p.Leu522del)	RAD21 (L522del)	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 3245528	NC_000008.10:g.(?_117859739)_(117861288_?)dup	RAD21	Duplication	Cornelia de Lange syndrome 4	GUncertain significance
Select item 3064208	NM_006265.3(RAD21):c.68G>A (p.Trp23Ter)	RAD21 (W23*)	Single nucleotide variant (nonsense)	Cornelia de Lange syndrome 4	GPathogenic
Select item 2582634	NM_006265.3(RAD21):c.1890T>G (p.Ile630Met)	RAD21 (I630M)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4	GUncertain significance
Select item 998067	NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	RAD21 (Y3*)	Single nucleotide variant (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 516238	NM_006265.3(RAD21):c.-51A>T	RAD21, RAD21-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 253855	GRCh37/hg19 8q24.11(chr8:117845995-117878859)x3	RAD21	Copy number gain	See cases	GUncertain significance