ClinVar for MedGen (Select 424842) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220884	NM_000381.4(MID1):c.1174_1178del (p.Cys392fs)	MID1 (C354fs +2 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 2572625	NM_000381.4(MID1):c.1688dup (p.Lys564fs)	LOC126863207, MID1 (K526fs +1 more)	Duplication (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 2443310	NM_000381.4(MID1):c.1798del (p.His600fs)	LOC126863207, MID1 (H562fs +1 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 2433748	NM_000381.4(MID1):c.1415G>A (p.Arg472His)	MID1 (R434H +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 2433747	NM_000381.4(MID1):c.693T>G (p.Ile231Met)	MID1 (I193M +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 2431543	NM_000381.4(MID1):c.849G>C (p.Lys283Asn)	MID1 (K245N +2 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 1805722	NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)	MID1 (S512N +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 1710143	NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp)	MID1	Duplication (inframe_insertion)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 1702864	NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)	MID1 (R330* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1684290	NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer)	MID1	Microsatellite (nonsense)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 1675326	NM_000381.4(MID1):c.535G>A (p.Glu179Lys)	MID1 (E179K)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 1343227	NM_000381.4(MID1):c.889C>T (p.Gln297Ter)	MID1 (Q259* +2 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1342643	NM_000381.4(MID1):c.1298C>T (p.Ser433Leu)	MID1 (S395L +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1333357	NM_000381.4(MID1):c.1310G>A (p.Trp437Ter)	MID1 (W399* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1302010	NM_000381.4(MID1):c.757-1G>A	MID1	Single nucleotide variant (splice acceptor variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1299558	NM_000381.4(MID1):c.1924A>C (p.Thr642Pro)	LOC126863207, MID1 (T604P +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1175196	NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter)	LOC126863207, MID1 (Y589* +1 more)	Duplication (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 1030754	NM_000381.4(MID1):c.476A>G (p.His159Arg)	MID1 (H159R)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 989248	NM_000381.4(MID1):c.1142-1G>T	MID1	Single nucleotide variant (splice acceptor variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 981742	NM_000381.4(MID1):c.1655+1G>A	MID1	Single nucleotide variant (splice donor variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 973281	NM_000381.4(MID1):c.388G>A (p.Ala130Thr)	MID1 (A130T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 873525	NM_000381.4(MID1):c.107G>A (p.Arg36His)	MID1 (R36H)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GUncertain significance
Select item 689640	NM_000381.4(MID1):c.1495G>A (p.Val499Met)	MID1 (V461M +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 617627	NM_000381.4(MID1):c.1917del (p.Thr640fs)	LOC126863207, MID1 (T602fs +1 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 589034	NM_000381.4(MID1):c.1242C>T (p.Tyr414=)	MID1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 547528	NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter)	LOC126863207, MID1 (Y627* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 547527	NM_000381.4(MID1):c.1725G>A (p.Trp575Ter)	LOC126863207, MID1 (W575* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 547526	NM_000381.4(MID1):c.1663A>G (p.Ile555Val)	LOC126863207, MID1 (I555V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 547525	NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter)	MID1 (S538* +1 more)	Duplication (nonsense)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 547524	NM_000381.4(MID1):c.1454del (p.Pro485fs)	MID1 (P485fs +1 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 547523	NM_000381.4(MID1):c.1393G>C (p.Ala465Pro)	MID1 (A465P +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 547522	NM_000381.4(MID1):c.922del (p.Arg308fs)	MID1 (R359fs +2 more)	Deletion (frameshift variant)	X-linked Opitz G/BBB syndrome	GLikely pathogenic
Select item 547521	NM_000381.4(MID1):c.829C>T (p.Arg277Ter)	MID1 (R277* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 547520	NM_000381.4(MID1):c.757-1G>C	MID1	Single nucleotide variant (splice acceptor variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 523781	NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)	MID1 (R495* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 523056	NM_000381.4(MID1):c.757-5831A>G	MID1 (Q265R)	Single nucleotide variant (missense variant +1 more)	X-linked Opitz G/BBB syndrome	GUncertain significance
Select item 522030	NM_000381.4(MID1):c.1361A>G (p.Gln454Arg)	MID1 (Q454R +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GConflicting classifications of pathogenicity
Select item 378139	NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)	LOC126863207, MID1 (K560R +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome +1 more	GUncertain significance
Select item 92879	NM_000381.4(MID1):c.498G>A (p.Pro166=)	MID1	Single nucleotide variant (synonymous variant)	MID1-related condition +4 more	GBenign/Likely benign
Select item 92878	NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)	LOC126863207, MID1 (P667L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 92876	NM_000381.4(MID1):c.1798dup (p.His600fs)	LOC126863207, MID1 (H562fs +1 more)	Duplication (frameshift variant)	X-linked Opitz G/BBB syndrome +1 more	GPathogenic
Select item 29975	NM_000381.4(MID1):c.712G>T (p.Glu238Ter)	MID1 (E238* +1 more)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10812	NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)	MID1	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 10811	NM_000381.4(MID1):c.884T>C (p.Leu295Pro)	MID1 (L295P +2 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10810	NG_008197.2:g.(218402_271087)_(271804_315503)dup	MID1	Duplication	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10809	NM_000381.4(MID1):c.343G>T (p.Glu115Ter)	MID1 (E115*)	Single nucleotide variant (nonsense)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10808	NM_000381.4(MID1):c.1877T>C (p.Leu626Pro)	LOC126863207, MID1 (L626P +1 more)	Single nucleotide variant (missense variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10807	NM_000381.4(MID1):c.1558dup (p.Glu520fs)	MID1 (E482fs +1 more)	Duplication (frameshift variant)	X-linked Opitz G/BBB syndrome	GPathogenic
Select item 10806	NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)	MID1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 10805	NM_000381.4(MID1):c.1311GAT[1] (p.Met438del)	MID1 (M438del +1 more)	Microsatellite (inframe_deletion)	X-linked Opitz G/BBB syndrome	GPathogenic

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Items: 50