"Blueprint Genetics"[submitter] AND "CHM"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866469	NM_000390.4(CHM):c.1770+2T>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 11152	NM_000390.4(CHM):c.1584_1587del (p.Val529fs)	CHM (V529fs +1 more)	Microsatellite (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 866185	NM_000390.4(CHM):c.1463G>T (p.Arg488Leu)	CHM (R488L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866059	NM_000390.4(CHM):c.1446del (p.Gly483fs)	CHM (G483fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865800	NM_000390.4(CHM):c.1411C>T (p.Gln471Ter)	CHM (Q323* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866846	NM_000390.4(CHM):c.1363del (p.Ala455fs)	CHM (A307fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866313	NM_000390.4(CHM):c.1358_1359delinsG (p.Ile452_Ser453insTer)	CHM	Indel (nonsense)	not provided +1 more	GPathogenic
Select item 865879	NM_000390.4(CHM):c.1349+3A>C	CHM	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866771	NM_000390.2(CHM):c.1167del	CHM	Deletion (genic downstream transcript variant)	Retinal dystrophy	GLikely pathogenic
Select item 866737	NM_000390.4(CHM):c.1094_1095del (p.Leu365fs)	CHM (L365fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866369	NM_000390.4(CHM):c.971T>G (p.Leu324Ter)	CHM (L324* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 866881	NM_000390.4(CHM):c.820-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866747	NM_000390.4(CHM):c.819+1G>A	CHM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 279775	NM_000390.4(CHM):c.799C>T (p.Arg267Ter)	CHM (R267* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 849044	NM_000390.4(CHM):c.776A>G (p.Asn259Ser)	CHM (N111S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866706	NM_000390.4(CHM):c.653C>G (p.Ser218Ter)	CHM (S218* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866915	NM_000390.4(CHM):c.586del (p.Asp195_Met196insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867034	NM_000390.4(CHM):c.535dup (p.Glu179fs)	CHM (E179fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 279773	NM_000390.4(CHM):c.525_526del (p.Glu177fs)	CHM (E29fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 865840	NM_000390.4(CHM):c.436_439del (p.Leu146fs)	CHM, LOC129391306 (L146fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866702	NM_000390.4(CHM):c.385A>G (p.Asn129Asp)	CHM, LOC129391306 (N129D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 865934	NM_000390.4(CHM):c.355C>T (p.Gln119Ter)	CHM, LOC129391306 (Q119*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 279772	NM_000390.4(CHM):c.315_318del (p.Ser105Argfs)	CHM, LOC129391306	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866380	NM_000390.4(CHM):c.189+1G>C	CHM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 279770	NM_000390.4(CHM):c.116+1G>T	CHM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 189189	NM_000390.4(CHM):c.116+1G>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866749	NM_000390.4(CHM):c.116C>T (p.Ser39Leu)	CHM (S39L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 865793	NM_000390.4(CHM):c.49+2T>C	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 867164	NM_000390.4(CHM):c.37del (p.Ile12_Val13insTer)	CHM	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic

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Items: 29