ClinVar for MedGen (Select 1625009) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235070	NM_017635.5(KMT5B):c.634dup (p.Ile212fs)	KMT5B (I141fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 3064983	NM_017635.5(KMT5B):c.1615C>T (p.Arg539Trp)	KMT5B (R299W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2921148	NM_017635.5(KMT5B):c.923G>A (p.Gly308Glu)	KMT5B (G136E +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2690173	NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp)	KMT5B (G434D +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2687918	NM_017635.5(KMT5B):c.1823del (p.Gly608fs)	KMT5B (G368fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2683928	NM_017635.5(KMT5B):c.1183C>T (p.Arg395Ter)	KMT5B (R155* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 2633693	NM_017635.5(KMT5B):c.95T>G (p.Leu32Ter)	KMT5B (L32*)	Single nucleotide variant (5 prime UTR variant +3 more)	KMT5B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2584616	NM_017635.5(KMT5B):c.1174+1575C>G	KMT5B	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2582732	NM_017635.5(KMT5B):c.2435G>C (p.Arg812Pro)	KMT5B (R572P +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2575087	NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)	KMT5B (R543* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 2499599	NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)	KMT5B (C133Y +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 2436525	NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs)	KMT5B (E584fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2436524	NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser)	KMT5B (G434S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 2433258	NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp)	KMT5B (R300W +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1895457	NM_017635.5(KMT5B):c.96dup (p.Gln33fs)	KMT5B (Q33fs)	Duplication (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1809711	NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)	KMT5B (E168del +3 more)	Microsatellite (inframe_deletion +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1805780	NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)	KMT5B (E130K +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1803795	NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)	KMT5B (I113V +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1801371	NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)	KMT5B (C152W +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1710212	NM_017635.5(KMT5B):c.857G>A (p.Arg286Gln)	KMT5B (R114Q +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1709197	NM_017635.5(KMT5B):c.877G>C (p.Ala293Pro)	KMT5B (A121P +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1708391	NM_017635.5(KMT5B):c.1411G>T (p.Glu471Ter)	KMT5B (E231* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1699390	NM_017635.5(KMT5B):c.1690T>C (p.Tyr564His)	KMT5B (Y324H +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1679298	NM_017635.5(KMT5B):c.1530_1534del (p.His512fs)	KMT5B (H272fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1342624	NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr)	KMT5B (S157Y +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1341932	NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn)	KMT5B (D19N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1341781	NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr)	KMT5B (A452T +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1334001	NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)	KMT5B (L192F +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 1326925	NM_017635.5(KMT5B):c.840+1_840+5del	KMT5B	Microsatellite (splice donor variant)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1256871	NM_017635.5(KMT5B):c.544-19dup	KMT5B	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1203846	NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)	KMT5B (L568fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1164063	NM_017635.5(KMT5B):c.541C>G (p.His181Asp)	KMT5B (H110D +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1164062	NM_017635.5(KMT5B):c.833A>T (p.Asn278Ile)	KMT5B (N106I +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 1098593	NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser)	KMT5B (P565S +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1033435	NM_017635.5(KMT5B):c.2511GGA[1] (p.Glu838del)	KMT5B (E598del +2 more)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 1033434	NM_017635.5(KMT5B):c.1616G>A (p.Arg539Gln)	KMT5B (R299Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 984918	NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)	KMT5B	Deletion (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 51	GLikely pathogenic
Select item 976356	NM_017635.5(KMT5B):c.329C>G (p.Ser110Ter)	KMT5B (S110* +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 802695	NM_017635.5(KMT5B):c.668_672del (p.Lys223fs)	KMT5B (K152fs +3 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 738262	NM_017635.5(KMT5B):c.309-5_309-2del	KMT5B	Microsatellite (intron variant +1 more)	Intellectual disability, autosomal dominant 51 +1 more	GLikely benign
Select item 666575	NM_017635.5(KMT5B):c.856C>T (p.Arg286Ter)	KMT5B (R114* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 51 +1 more	GPathogenic
Select item 626229	NM_017635.5(KMT5B):c.1619G>A (p.Arg540Gln)	KMT5B (R540Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 626228	NM_017635.5(KMT5B):c.1538C>T (p.Ala513Val)	KMT5B (A513V +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 560606	NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)	KMT5B (R187* +3 more)	Single nucleotide variant (nonsense +2 more)	Neural tube defect +1 more	GPathogenic/Likely pathogenic
Select item 560605	NM_017635.5(KMT5B):c.219del (p.Ala74fs)	KMT5B (A3fs +1 more)	Deletion (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 559640	NM_017635.5(KMT5B):c.255del (p.Ser86fs)	KMT5B (S15fs +1 more)	Deletion (5 prime UTR variant +3 more)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 446523	NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)	KMT5B (W264S +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 51	GUncertain significance
Select item 446522	NM_017635.5(KMT5B):c.1557_1558del (p.Asn520fs)	KMT5B (N280fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 51	GPathogenic
Select item 446521	NM_017635.5(KMT5B):c.725del (p.Leu242fs)	KMT5B (L70fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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Items: 49