"GeneDx"[submitter] AND "MIP"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 309879	NM_012064.4(MIP):c.*284T>C	MIP	Single nucleotide variant (3 prime UTR variant)	Cataract 15 multiple types +1 more	GLikely benign
Select item 309881	NM_012064.4(MIP):c.*148dup	MIP	Duplication (3 prime UTR variant)	Cataract +1 more	GConflicting classifications of pathogenicity
Select item 1208453	NM_012064.4(MIP):c.147_148del	MIP	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 309880	NM_012064.4(MIP):c.*148del	MIP	Deletion (3 prime UTR variant)	Cataract +1 more	GBenign
Select item 309883	NM_012064.4(MIP):c.*94T>G	MIP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 432015	NM_012064.4(MIP):c.698G>A (p.Arg233Lys)	MIP (R233K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2429698	NM_012064.4(MIP):c.638G>A (p.Gly213Asp)	MIP (G213D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 50960	NM_012064.4(MIP):c.638del (p.Gly213fs)	MIP (G213fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1286699	NM_012064.4(MIP):c.607-47A>G	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181080	NM_012064.4(MIP):c.607-54C>T	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237455	NM_012064.4(MIP):c.607-109A>G	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182902	NM_012064.4(MIP):c.607-152G>A	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267288	NM_012064.4(MIP):c.607-229A>C	MIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392878	NM_012064.4(MIP):c.526-2A>C	MIP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1186291	NM_012064.4(MIP):c.526-125G>T	MIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391974	NM_012064.4(MIP):c.401A>C (p.Glu134Ala)	MIP (E134A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1194062	NM_012064.4(MIP):c.360+103C>A	MIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260169	NM_012064.4(MIP):c.319G>A (p.Val107Ile)	MIP (V107I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 702547	NM_012064.4(MIP):c.199G>A (p.Val67Ile)	MIP (V67I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 309889	NM_012064.4(MIP):c.-10C>A	MIP	Single nucleotide variant (5 prime UTR variant)	Cataract 15 multiple types +1 more	GBenign/Likely benign
Select item 1231706	NC_000012.12:g.56454697T>C	MIP	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1676377	NM_012064.4(MIP):c.20C>T (p.Ala7Val)	MIP (A7V)	Single nucleotide variant	not provided	GUncertain significance

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Items: 22