ClinVar for Gene (Select 10712) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275582	NM_006589.3(ENTREP3):c.1813G>A (p.Gly605Arg)	ENTREP3 (G587R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275581	NM_006589.3(ENTREP3):c.406T>G (p.Cys136Gly)	ENTREP3 (C117G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275580	NM_006589.3(ENTREP3):c.743C>T (p.Pro248Leu)	ENTREP3 (P248L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089252	NM_006589.3(ENTREP3):c.982T>G (p.Ser328Ala)	ENTREP3 (S232A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089251	NM_006589.3(ENTREP3):c.940G>C (p.Glu314Gln)	ENTREP3 (E218Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089250	NM_006589.3(ENTREP3):c.91C>G (p.Leu31Val)	ENTREP3 (L31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089249	NM_006589.3(ENTREP3):c.74G>A (p.Arg25His)	ENTREP3 (R25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089248	NM_006589.3(ENTREP3):c.683C>T (p.Pro228Leu)	ENTREP3 (P132L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089247	NM_006589.3(ENTREP3):c.671C>A (p.Thr224Lys)	ENTREP3 (T206K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089246	NM_006589.3(ENTREP3):c.653T>G (p.Leu218Arg)	ENTREP3 (L122R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089245	NM_006589.3(ENTREP3):c.635G>A (p.Arg212Gln)	ENTREP3 (R116Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089244	NM_006589.3(ENTREP3):c.613G>A (p.Val205Met)	ENTREP3 (V186M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089243	NM_006589.3(ENTREP3):c.457C>G (p.Gln153Glu)	ENTREP3 (Q153E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089242	NM_006589.3(ENTREP3):c.384G>T (p.Gln128His)	ENTREP3 (Q128H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089240	NM_006589.3(ENTREP3):c.1936C>T (p.Arg646Cys)	ENTREP3 (R550C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089239	NM_006589.3(ENTREP3):c.1891G>A (p.Gly631Arg)	ENTREP3 (G631R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089238	NM_006589.3(ENTREP3):c.1889G>T (p.Cys630Phe)	ENTREP3 (C612F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089237	NM_006589.3(ENTREP3):c.17G>C (p.Ser6Thr)	ENTREP3 (S6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089236	NM_006589.3(ENTREP3):c.1769G>A (p.Arg590His)	ENTREP3 (R494H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089235	NM_006589.3(ENTREP3):c.1729G>A (p.Asp577Asn)	ENTREP3 (D559N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089234	NM_006589.3(ENTREP3):c.1661G>A (p.Arg554Gln)	ENTREP3 (R554Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089232	NM_006589.3(ENTREP3):c.1621C>A (p.Pro541Thr)	ENTREP3 (P445T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089231	NM_006589.3(ENTREP3):c.1429C>T (p.Pro477Ser)	ENTREP3 (P477S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089230	NM_006589.3(ENTREP3):c.1391G>T (p.Ser464Ile)	ENTREP3 (S464I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089229	NM_006589.3(ENTREP3):c.1390A>G (p.Ser464Gly)	ENTREP3 (S368G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089228	NM_006589.3(ENTREP3):c.1381C>T (p.Arg461Cys)	ENTREP3 (R443C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089227	NM_006589.3(ENTREP3):c.1327G>T (p.Val443Phe)	ENTREP3 (V425F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089226	NM_006589.3(ENTREP3):c.1210T>G (p.Cys404Gly)	ENTREP3 (C404G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089225	NM_006589.3(ENTREP3):c.1178G>A (p.Arg393Gln)	ENTREP3 (R375Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089224	NM_006589.3(ENTREP3):c.1159G>A (p.Glu387Lys)	ENTREP3 (E387K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089223	NM_006589.3(ENTREP3):c.1112G>C (p.Arg371Pro)	ENTREP3 (R275P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089222	NM_006589.3(ENTREP3):c.1084G>A (p.Val362Ile)	ENTREP3 (V266I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089221	NM_006589.3(ENTREP3):c.107C>T (p.Thr36Met)	ENTREP3 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2619734	NM_006589.3(ENTREP3):c.1293G>T (p.Trp431Cys)	ENTREP3 (W431C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615303	NM_006589.3(ENTREP3):c.1957C>T (p.Arg653Cys)	ENTREP3 (R635C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2558803	NM_006589.3(ENTREP3):c.1415C>T (p.Pro472Leu)	ENTREP3 (P472L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552200	NM_006589.3(ENTREP3):c.1141G>A (p.Gly381Ser)	ENTREP3 (G381S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548420	NM_006589.3(ENTREP3):c.145G>A (p.Val49Ile)	ENTREP3 (V49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542162	NM_006589.3(ENTREP3):c.608A>C (p.Asp203Ala)	ENTREP3 (D203A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532726	NM_006589.3(ENTREP3):c.1981G>C (p.Gly661Arg)	ENTREP3 (G565R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495720	NM_006589.3(ENTREP3):c.374A>C (p.Asp125Ala)	ENTREP3 (D125A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489874	NM_006589.3(ENTREP3):c.689C>T (p.Pro230Leu)	ENTREP3 (P212L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467089	NM_006589.3(ENTREP3):c.613G>C (p.Val205Leu)	ENTREP3 (V109L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 60