IQCD[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2532197	NM_001330452.2(IQCD):c.1277G>A (p.Arg426Gln)	IQCD (R324Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464909	NM_001330452.2(IQCD):c.1214C>T (p.Thr405Met)	IQCD (T405M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559366	NM_001330452.2(IQCD):c.1210G>A (p.Ala404Thr)	IQCD (A302T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509940	NM_001330452.2(IQCD):c.1208C>T (p.Ala403Val)	IQCD (A301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325974	NM_001330452.2(IQCD):c.1195C>G (p.Arg399Gly)	IQCD (R399G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304162	NM_001330452.2(IQCD):c.1177G>T (p.Ala393Ser)	IQCD (A291S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526168	NM_001330452.2(IQCD):c.1162A>G (p.Lys388Glu)	IQCD (K388E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516655	NM_001330452.2(IQCD):c.1159T>C (p.Ser387Pro)	IQCD (S285P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110414	NM_001330452.2(IQCD):c.1120G>A (p.Gly374Arg)	IQCD (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485129	NM_001330452.2(IQCD):c.1090G>A (p.Glu364Lys)	IQCD (E262K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110413	NM_001330452.2(IQCD):c.653A>G (p.Gln218Arg)	IQCD (Q218R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231462	NM_001330452.2(IQCD):c.610G>A (p.Glu204Lys)	IQCD (E204K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110412	NM_001330452.2(IQCD):c.571C>T (p.Arg191Cys)	IQCD (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525964	NM_001330452.2(IQCD):c.550A>G (p.Ile184Val)	IQCD (I184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483771	NM_001330452.2(IQCD):c.542A>G (p.Gln181Arg)	IQCD (Q181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110411	NM_001330452.2(IQCD):c.515A>C (p.Gln172Pro)	IQCD (Q172P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235929	NM_001330452.2(IQCD):c.313G>A (p.Val105Ile)	IQCD (V105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601415	NM_001330452.2(IQCD):c.259G>A (p.Val87Ile)	IQCD (V87I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2378202	NM_001330452.2(IQCD):c.176C>T (p.Ala59Val)	IQCD (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592316	NM_001330452.2(IQCD):c.91G>A (p.Ala31Thr)	IQCD, LOC130008830 (A31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302944	NM_001330452.2(IQCD):c.35A>G (p.Tyr12Cys)	IQCD, LOC130008830 (Y12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1340934	GRCh37/hg19 12q24.13(chr12:113622666-113848323)x3	DDX54, IQCD +5 more	Copy number gain	not provided	GLikely benign
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 29