ClinVar for OMIM (Select 194190) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 2412796	NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)	NSD2 (D943fs)	Duplication (frameshift variant)	4p partial monosomy syndrome	Gnot provided
Select item 1709130	NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)	NSD2 (K309N)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GLikely pathogenic
Select item 1684154	NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)	NUF2 (L303P)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 1680228	NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=)	NSD2	Single nucleotide variant (synonymous variant)	4p partial monosomy syndrome +2 more	GBenign/Likely benign
Select item 1580323	NM_012318.3(LETM1):c.83-19dup	LETM1	Duplication (intron variant)	4p partial monosomy syndrome +1 more	GBenign/Likely benign
Select item 1341735	NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser)	NSD2 (G1364S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1308650	NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs)	NSD2 (G1076fs)	Duplication (frameshift variant)	4p partial monosomy syndrome	GPathogenic
Select item 1285442	NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys)	NSD2 (R892K)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 1169919	NM_012318.3(LETM1):c.326A>G (p.His109Arg)	LETM1 (H109R)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome +1 more	GBenign
Select item 1165523	NM_001012614.2(CTBP1):c.486C>T (p.Arg162=)	CTBP1	Single nucleotide variant (synonymous variant)	4p partial monosomy syndrome +2 more	GBenign/Likely benign
Select item 1065515	NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys)	NSD2 (E1091K)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 1029069	NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter)	NSD2 (Q963*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome	GPathogenic
Select item 932096	NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg)	FGFRL1 (L281R)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 930379	NM_012318.3(LETM1):c.1261A>T (p.Met421Leu)	LETM1 (M421L)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 784486	NM_012318.3(LETM1):c.393C>A (p.Asn131Lys)	LETM1 (N131K)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome +1 more	GBenign/Likely benign
Select item 728655	NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn)	FGFRL1 (D181N)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome +1 more	GBenign/Likely benign
Select item 625782	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)	ADGRA3, DHX15 +5 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625700	GRCh37/hg19 4p16.3(chr4:1305802-2460571)	HAUS3, FAM53A +16 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 599449	NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter)	NSD2 (Q265*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome +1 more	GPathogenic
Select item 599448	NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter)	NSD2 (W236*)	Single nucleotide variant (nonsense)	4p partial monosomy syndrome +1 more	GPathogenic
Select item 599447	NM_001042424.3(NSD2):c.1569dup (p.Lys524fs)	NSD2 (K524fs)	Duplication (frameshift variant)	4p partial monosomy syndrome +1 more	GPathogenic
Select item 547999	NM_133330.3(NSD2):c.1676_1679del	NSD2	Microsatellite (splice acceptor variant)	Neurodevelopmental delay +4 more	GPathogenic
Select item 348488	NM_001042424.3(NSD2):c.*2012dup	NSD2	Duplication (3 prime UTR variant)	4p partial monosomy syndrome	GUncertain significance
Select item 348485	NM_001042424.3(NSD2):c.*1922dup	NSD2	Duplication (3 prime UTR variant)	4p partial monosomy syndrome	GUncertain significance
Select item 348474	NM_001042424.3(NSD2):c.*1370dup	NSD2	Duplication (3 prime UTR variant)	4p partial monosomy syndrome	GUncertain significance
Select item 348458	NM_001042424.3(NSD2):c.*339CTC[1]	NSD2	Microsatellite (3 prime UTR variant)	4p partial monosomy syndrome	GLikely benign
Select item 348438	NM_001042424.3(NSD2):c.1902C>T (p.Asp634=)	NSD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348402	NM_001042424.3(NSD2):c.-29-6901dup	NSD2	Duplication (intron variant)	4p partial monosomy syndrome	GUncertain significance

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Links from OMIM

Items: 30