ClinVar for MedGen (Select 1675423) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068188	NM_019042.5(PUS7):c.1984T>C (p.Ter662Arg)	PUS7	Single nucleotide variant (stop lost)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 2501667	NM_019042.5(PUS7):c.843-1G>A	PUS7	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 2431821	NM_019042.5(PUS7):c.303del (p.Phe101fs)	PUS7 (F101fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 2431797	NM_019042.5(PUS7):c.1196G>A (p.Trp399Ter)	PUS7 (W399* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1805902	NM_019042.5(PUS7):c.805A>G (p.Thr269Ala)	PUS7 (T269A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 1802167	NM_019042.5(PUS7):c.1097_1098del (p.Leu366fs)	PUS7 (L366fs +1 more)	Microsatellite (frameshift variant)	Pervasive developmental disorder +1 more	GPathogenic
Select item 1327924	NM_019042.5(PUS7):c.483+42dup	PUS7	Duplication (intron variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GBenign
Select item 1327923	NM_019042.5(PUS7):c.585+43G>C	PUS7	Single nucleotide variant (intron variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GBenign
Select item 1327922	NM_019042.5(PUS7):c.842+44A>G	PUS7	Single nucleotide variant (intron variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GBenign
Select item 1303121	NM_019042.5(PUS7):c.921-5del	PUS7	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1202679	NM_019042.5(PUS7):c.406G>A (p.Asp136Asn)	PUS7 (D136N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1184593	NM_019042.5(PUS7):c.1385_1386del (p.Ser462fs)	PUS7 (S462fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1065429	NM_019042.5(PUS7):c.298_299del (p.Ser100fs)	PUS7 (S100fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1065428	NM_019042.5(PUS7):c.640_641del (p.Leu214fs)	PUS7 (L214fs)	Microsatellite (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 1028136	NM_019042.5(PUS7):c.1121A>T (p.Tyr374Phe)	PUS7 (Y374F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GUncertain significance
Select item 807478	NM_019042.5(PUS7):c.99_100del (p.Lys34fs)	PUS7 (K34fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GLikely pathogenic
Select item 804243	NM_019042.5(PUS7):c.398+1G>T	PUS7	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +1 more	GConflicting classifications of pathogenicity
Select item 804242	NM_019042.5(PUS7):c.1160C>T (p.Thr387Met)	PUS7 (T387M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 619234	NM_019042.5(PUS7):c.329_332del (p.Thr110fs)	PUS7 (T110fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 619233	NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr)	PUS7 (D503Y +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature +1 more	GPathogenic/Likely pathogenic
Select item 619232	NM_019042.4(PUS7):c.(1757+1_1758-1)_(1848+1_1849-1)del	PUS7	Deletion	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 619231	NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter)	PUS7 (R450* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic
Select item 619230	NM_019042.5(PUS7):c.89_90del (p.Thr30fs)	PUS7 (T30fs)	Deletion (frameshift variant)	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature	GPathogenic

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Items: 23