Related gene-specific medical variations for Gene (Select 8242) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065005	NM_004187.5(KDM5C):c.3499A>G (p.Thr1167Ala)	KDM5C (T1100A +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2705897	NM_004187.5(KDM5C):c.61T>C (p.Trp21Arg)	KDM5C, LOC130068308 (W21R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2582636	NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)	KDM5C (Y373D +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2580905	NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)	KDM5C (W1141* +2 more)	Single nucleotide variant (nonsense +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 2578537	NM_004187.5(KDM5C):c.94G>T (p.Ala32Ser)	KDM5C, LOC130068308 (A32S)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433068	NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)	KDM5C (P1254R +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433067	NM_004187.5(KDM5C):c.1243-3C>T	KDM5C	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433066	NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)	KDM5C (Q903L +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433065	NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)	KDM5C (S1445N +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2433064	NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)	KDM5C (P201S +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 2171856	NM_004187.5(KDM5C):c.2244-14C>A	KDM5C, MIR6894	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GBenign
Select item 2141050	NM_004187.5(KDM5C):c.96G>A (p.Ala32=)	KDM5C, LOC130068308	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2133094	NM_004187.5(KDM5C):c.3121-14G>A	KDM5C, MIR6895	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2083267	NM_004187.5(KDM5C):c.126C>T (p.Gly42=)	KDM5C, LOC130068308	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2048103	NM_004187.5(KDM5C):c.44C>T (p.Pro15Leu)	KDM5C, LOC130068308 (P15L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1741795	NM_004187.5(KDM5C):c.45G>A (p.Pro15=)	KDM5C, LOC130068308	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1527871	NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)	KDM5C (D554G +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 1334775	NM_004187.5(KDM5C):c.2517_2622del	KDM5C	Deletion (splice acceptor variant)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1319133	NM_004187.5(KDM5C):c.3826G>A (p.Glu1276Lys)	KDM5C (E1209K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311482	NM_004187.5(KDM5C):c.112G>A (p.Ala38Thr)	KDM5C, LOC130068308 (A38T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1275789	NM_004187.5(KDM5C):c.1122+1G>A	KDM5C	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1218367	NM_004187.5(KDM5C):c.-240G>A	KDM5C, LOC113875033	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1213777	NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr)	KDM5C (A825T +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 1184875	NM_004187.5(KDM5C):c.782-1G>T	KDM5C	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1174937	NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)	KDM5C, LOC130068308 (P27L)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GPathogenic
Select item 1098622	NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu)	KDM5C (K222E +2 more)	Single nucleotide variant (missense variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GUncertain significance
Select item 987396	NM_004187.5(KDM5C):c.149_150dup (p.Asp51fs)	KDM5C (D51fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 987200	NM_004187.5(KDM5C):c.150+1G>T	KDM5C	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 978949	NM_004187.5(KDM5C):c.47T>G (p.Val16Gly)	KDM5C, LOC130068308 (V16G)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 977349	NM_004187.5(KDM5C):c.2329G>C (p.Val777Leu)	KDM5C (V710L +2 more)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 800318	NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)	KDM5C, LOC130068308 (E23*)	Single nucleotide variant (nonsense +1 more)	Multiple myeloma	GLikely pathogenic
Select item 620025	NM_004187.5(KDM5C):c.100del (p.Ile34fs)	KDM5C, LOC130068308 (I34fs)	Deletion (frameshift variant +1 more)	Syndromic X-linked intellectual disability Claes-Jensen type	GLikely pathogenic
Select item 445954	NM_004187.5(KDM5C):c.1025G>T (p.Cys342Phe)	KDM5C (C342F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 431823	NM_004187.5(KDM5C):c.89A>G (p.Tyr30Cys)	KDM5C, LOC130068308 (Y30C)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 377331	NM_004187.5(KDM5C):c.224T>C (p.Leu75Pro)	KDM5C (L75P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 281538	NM_004187.5(KDM5C):c.108C>T (p.Pro36=)	KDM5C, LOC130068308	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 134593	NM_004187.5(KDM5C):c.4498G>A (p.Glu1500Lys)	KDM5C (E1500K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134591	NM_004187.5(KDM5C):c.738G>C (p.Met246Ile)	KDM5C (M246I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134590	NM_004187.5(KDM5C):c.*132C>G	KDM5C (P1350R)	Single nucleotide variant (missense variant +2 more)	not specified	Gnot provided
Select item 134588	NM_004187.5(KDM5C):c.2705A>G (p.Gln902Arg)	KDM5C (Q902R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 134587	NM_004187.5(KDM5C):c.2507A>G (p.Gln836Arg)	KDM5C (Q836R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	Gnot provided
Select item 91959	NM_004187.5(KDM5C):c.4231G>A (p.Val1411Met)	KDM5C (V1411M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 42