Related gene-specific medical variations for Gene (Select 1630) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685622	GRCh37/hg19 18q21.2(chr18:50603331-50840962)x1	DCC	Copy number loss	not provided	GUncertain significance
Select item 2439657	NM_005215.4(DCC):c.437_440del (p.Thr146fs)	DCC (T146fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2429879	NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)	DCC (L385*)	Single nucleotide variant (nonsense)	Mirror movements 1	GPathogenic
Select item 2429878	NM_005215.4(DCC):c.617A>T (p.Asp206Val)	DCC (D206V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 1992322	NM_005215.4(DCC):c.2220CAT[2] (p.Ile742del)	DCC (I742del)	Microsatellite (inframe_deletion)	Mirror movements 1	GUncertain significance
Select item 1807960	GRCh37/hg19 18q21.2(chr18:50440399-50522506)x1	DCC	Copy number loss	not provided	GUncertain significance
Select item 1807916	GRCh37/hg19 18q21.2(chr18:50158121-50294980)x1	DCC	Copy number loss	not provided	GUncertain significance
Select item 1802657	NM_005215.4(DCC):c.4210G>A (p.Glu1404Lys)	DCC (E1404K)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1802656	NM_005215.4(DCC):c.4009C>T (p.Arg1337Ter)	DCC (R1337*)	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1526621	GRCh37/hg19 18q21.2(chr18:50894473-51056985)	DCC	Copy number gain	not specified	GUncertain significance
Select item 1344763	NM_005215.4(DCC):c.2647G>A (p.Val883Ile)	DCC (V883I)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1344762	NM_005215.4(DCC):c.2455G>A (p.Asp819Asn)	DCC (D819N)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 1324209	NM_005215.4(DCC):c.2998dup (p.Ile1000fs)	DCC (I1000fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 930503	NM_005215.4(DCC):c.769G>A (p.Ala257Thr)	DCC (A257T)	Single nucleotide variant (missense variant)	Gaze palsy, familial horizontal, with progressive scoliosis, 2	GUncertain significance
Select item 871589	NM_005215.4(DCC):c.3230-1G>A	DCC	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 808414	GRCh37/hg19 18q21.2(chr18:49867158-50866277)x3	DCC	Copy number gain	not provided	GUncertain significance
Select item 687570	GRCh37/hg19 18q21.2(chr18:48889159-50365575)x3	DCC	Copy number gain	not provided	GUncertain significance
Select item 686216	GRCh37/hg19 18q21.2(chr18:49829584-49939034)x1	DCC	Copy number loss	not provided	GUncertain significance
Select item 560075	Single allele	DCC	Duplication	Mirror movements 1	GUncertain significance
Select item 443763	GRCh37/hg19 18q21.2(chr18:49805812-51424388)x3	DCC	Copy number gain	See cases	GUncertain significance
Select item 443475	GRCh37/hg19 18q21.2(chr18:50443167-50647809)x3	DCC	Copy number gain	See cases	GLikely pathogenic
Select item 375320	NM_005215.4(DCC):c.3649A>G (p.Met1217Val)	DCC (M1217V)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 375319	NM_005215.4(DCC):c.3748G>A (p.Ala1250Thr)	DCC (A1250T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 187801	NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)	DCC	Deletion	Mirror movements 1	GPathogenic

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Links from Gene

Items: 24