ClinVar for Gene (Select 55832) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	C12orf56, CAND1 +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 3136946	NM_018448.5(CAND1):c.725G>A (p.Ser242Asn)	CAND1 (S209N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136945	NM_018448.5(CAND1):c.667T>A (p.Ser223Thr)	CAND1 (S223T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136944	NM_018448.5(CAND1):c.442G>A (p.Val148Ile)	CAND1 (V115I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136942	NM_018448.5(CAND1):c.2764G>T (p.Val922Leu)	CAND1 (V898L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136941	NM_018448.5(CAND1):c.2455G>A (p.Gly819Ser)	CAND1 (G795S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136939	NM_018448.5(CAND1):c.1591C>A (p.Pro531Thr)	CAND1 (P507T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2621538	NM_018448.5(CAND1):c.1360T>G (p.Cys454Gly)	CAND1 (C421G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558098	NM_018448.5(CAND1):c.3164A>G (p.Glu1055Gly)	CAND1 (E1022G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494750	NM_018448.5(CAND1):c.2068A>G (p.Ile690Val)	CAND1 (I666V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384059	NM_018448.5(CAND1):c.2666C>T (p.Pro889Leu)	CAND1 (P889L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378758	NM_018448.5(CAND1):c.3626C>T (p.Ala1209Val)	CAND1 (A1185V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370083	NM_018448.5(CAND1):c.1958C>G (p.Pro653Arg)	CAND1 (P653R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341062	NM_018448.5(CAND1):c.1797C>A (p.Asn599Lys)	CAND1 (N599K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333398	NM_018448.5(CAND1):c.1132G>A (p.Ala378Thr)	CAND1 (A345T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322574	NM_018448.5(CAND1):c.1426C>T (p.Leu476Phe)	CAND1 (L443F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317728	NM_018448.5(CAND1):c.1682C>T (p.Ala561Val)	CAND1 (A561V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315501	NM_018448.5(CAND1):c.2558G>C (p.Gly853Ala)	CAND1 (G829A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309093	NM_018448.5(CAND1):c.1349C>A (p.Thr450Asn)	CAND1 (T450N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306778	NM_018448.5(CAND1):c.2434A>G (p.Lys812Glu)	CAND1 (K779E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301230	NM_018448.5(CAND1):c.3559C>G (p.Pro1187Ala)	CAND1 (P1187A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269359	NM_018448.5(CAND1):c.1123G>A (p.Val375Ile)	CAND1 (V351I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257513	NM_018448.5(CAND1):c.2344C>A (p.Pro782Thr)	CAND1 (P749T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224049	NM_018448.5(CAND1):c.1814G>T (p.Gly605Val)	CAND1 (G581V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210290	NM_018448.5(CAND1):c.1115A>T (p.Tyr372Phe)	CAND1 (Y372F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	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
Select item 161718	NM_018448.5(CAND1):c.737G>A (p.Gly246Asp)	CAND1 (G246D +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	BEST3, CAND1 +163 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 36