Related gene-specific medical variations for Gene (Select 101928335) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338195	NM_012216.4(MID2):c.2003A>G (p.Tyr668Cys)	LOC101928335, MID2 (Y618C +3 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3294820	NM_012216.4(MID2):c.897G>T (p.Met299Ile)	LOC101928335, MID2 (M299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294818	NM_012216.4(MID2):c.1697G>A (p.Ser566Asn)	LOC101928335, MID2 (S546N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294817	NM_012216.4(MID2):c.1603C>T (p.Pro535Ser)	LOC101928335, MID2 (P535S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294816	NM_012216.4(MID2):c.834T>G (p.His278Gln)	LOC101928335, MID2 (H278Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063975	NM_012216.4(MID2):c.1756A>G (p.Ile586Val)	LOC101928335, MID2 (I536V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061474	NM_012216.4(MID2):c.1296C>T (p.Ser432=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	MID2-related disorder	GLikely benign
Select item 3044191	NM_012216.4(MID2):c.1707A>G (p.Pro569=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	MID2-related disorder	GLikely benign
Select item 2691674	NM_012216.4(MID2):c.1435+1G>A	LOC101928335, MID2	Single nucleotide variant (splice donor variant +1 more)	not specified	GUncertain significance
Select item 2682330	NM_012216.4(MID2):c.2190G>A (p.Gly730=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2671901	NM_012216.4(MID2):c.1106T>C (p.Leu369Pro)	LOC101928335, MID2 (L349P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2569397	NM_012216.4(MID2):c.1705C>T (p.Pro569Ser)	LOC101928335, MID2 (P519S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535695	NM_012216.4(MID2):c.848T>C (p.Met283Thr)	LOC101928335, MID2 (M263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433749	NM_012216.4(MID2):c.1414A>G (p.Arg472Gly)	LOC101928335, MID2 (R452G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2431776	NM_012216.4(MID2):c.1090G>T (p.Ala364Ser)	LOC101928335, MID2 (A344S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2349455	NM_012216.4(MID2):c.2143C>T (p.Arg715Trp)	LOC101928335, MID2 (R665W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325832	NM_012216.4(MID2):c.1150T>G (p.Leu384Val)	LOC101928335, MID2 (L384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290898	NM_012216.4(MID2):c.1829A>G (p.Lys610Arg)	LOC101928335, MID2 (K560R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2244819	NM_012216.4(MID2):c.868G>A (p.Val290Ile)	LOC101928335, MID2 (V270I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709693	NM_012216.4(MID2):c.1131_1133delinsAGA (p.Asp377_Ala378delinsGluAsp)	LOC101928335, MID2	Indel (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1703142	NM_012216.4(MID2):c.1217C>A (p.Ser406Tyr)	LOC101928335, MID2 (S386Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343245	NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)	LOC101928335, MID2 (R458* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 1336967	NM_012216.4(MID2):c.1662G>T (p.Leu554Phe)	LOC101928335, MID2 (L504F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328025	NM_012216.4(MID2):c.1662G>A (p.Leu554=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047926	NM_012216.4(MID2):c.2070del (p.Phe691fs)	LOC101928335, MID2 (F641fs +3 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 857934	NM_012216.4(MID2):c.1834G>T (p.Ala612Ser)	LOC101928335, MID2 (A612S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 818208	NM_012216.4(MID2):c.1447del (p.Ser483fs)	LOC101928335, MID2 (S453fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GPathogenic
Select item 807798	NM_012216.4(MID2):c.991G>A (p.Val331Ile)	LOC101928335, MID2 (V331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800883	NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)	LOC101928335, MID2 (G520S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GConflicting classifications of pathogenicity
Select item 797535	NM_012216.4(MID2):c.900C>T (p.Ile300=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734233	NM_012216.4(MID2):c.817-10T>G	LOC101928335, MID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730148	NM_012216.4(MID2):c.1028A>G (p.Asn343Ser)	LOC101928335, MID2 (N343S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729710	NM_012216.4(MID2):c.1734T>C (p.Tyr578=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723496	NM_012216.4(MID2):c.924+7C>T	LOC101928335, MID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716655	NM_012216.4(MID2):c.1602A>G (p.Gln534=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 691447	NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)	LOC101928335, MID2 (I556T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 445463	NM_012216.4(MID2):c.1074-4del	LOC101928335, MID2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 435871	NM_012216.4(MID2):c.2144G>A (p.Arg715Gln)	LOC101928335, MID2 (R715Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 435869	NM_012216.4(MID2):c.1656T>C (p.Asp552=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435868	NM_012216.4(MID2):c.1428G>A (p.Ala476=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 143857	NM_012216.4(MID2):c.1040G>A (p.Arg347Gln)	LOC101928335, MID2 (R347Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GPathogenic

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Links from Gene

Items: 41