"PreventionGenetics, part of Exact Sciences"[submitter] AND "KDM5C"[ge - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049335	NM_004187.5(KDM5C):c.*133T>A	KDM5C	Single nucleotide variant (synonymous variant +2 more)	KDM5C-related condition	GLikely benign
Select item 2579094	NM_004187.5(KDM5C):c.*130C>A	KDM5C	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2283519	NM_004187.5(KDM5C):c.*124G>C	KDM5C	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 567330	NM_004187.5(KDM5C):c.4563G>T (p.Glu1521Asp)	KDM5C (E1521D +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 252625	NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys)	KDM5C (R1435C +3 more)	Single nucleotide variant (missense variant +2 more)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 1603713	NM_004187.5(KDM5C):c.4117+9A>G	KDM5C	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 94878	NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 3039953	NM_004187.5(KDM5C):c.3831C>A (p.Ala1277=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition	GLikely benign
Select item 2724974	NM_004187.5(KDM5C):c.3780A>G (p.Ala1260=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +1 more	GLikely benign
Select item 695363	NM_004187.5(KDM5C):c.3778G>T (p.Ala1260Ser)	KDM5C (A1193S +2 more)	Single nucleotide variant (missense variant +1 more)	KDM5C-related condition +2 more	GBenign/Likely benign
Select item 283211	NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 2634855	NM_004187.5(KDM5C):c.3528ATC[1] (p.Ser1179del)	KDM5C (S1112del +2 more)	Microsatellite (inframe_deletion +1 more)	KDM5C-related condition	GUncertain significance
Select item 3038478	NM_004187.5(KDM5C):c.2868G>C (p.Ala956=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition	GLikely benign
Select item 211248	NM_004187.5(KDM5C):c.2823A>G (p.Ser941=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +3 more	GBenign
Select item 3029950	NM_004187.5(KDM5C):c.2609T>C (p.Ile870Thr)	KDM5C (I803T +2 more)	Single nucleotide variant (missense variant +1 more)	KDM5C-related condition	GUncertain significance
Select item 1254724	NM_004187.5(KDM5C):c.2529G>T (p.Val843=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +1 more	GBenign/Likely benign
Select item 420838	NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met)	KDM5C (T713M +2 more)	Single nucleotide variant (missense variant +1 more)	KDM5C-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3052750	NM_004187.5(KDM5C):c.1929C>G (p.Ser643=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition	GLikely benign
Select item 2633803	NM_004187.5(KDM5C):c.1866+6T>C	KDM5C	Single nucleotide variant (intron variant)	KDM5C-related condition	GUncertain significance
Select item 3035595	NM_004187.5(KDM5C):c.1836C>T (p.Ala612=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition	GLikely benign
Select item 695652	NM_004187.5(KDM5C):c.1794C>G (p.Pro598=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +3 more	GBenign
Select item 166871	NM_004187.5(KDM5C):c.1764G>A (p.Gln588=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +4 more	GBenign/Likely benign
Select item 2630090	NM_004187.5(KDM5C):c.1277G>A (p.Trp426Ter)	KDM5C (W359* +2 more)	Single nucleotide variant (nonsense +1 more)	KDM5C-related condition	GLikely pathogenic
Select item 3053359	NM_004187.5(KDM5C):c.771G>A (p.Leu257=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition	GLikely benign
Select item 211252	NM_004187.5(KDM5C):c.536G>A (p.Arg179His)	KDM5C (R179H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1271775	NM_004187.5(KDM5C):c.408G>C (p.Arg136=)	KDM5C	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 281538	NM_004187.5(KDM5C):c.108C>T (p.Pro36=)	KDM5C, LOC130068308	Single nucleotide variant (synonymous variant +1 more)	KDM5C-related condition +4 more	GBenign/Likely benign

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Items: 27