GCNT3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 146698	GRCh38/hg38 15q22.2(chr15:59565894-59705977)x1	BNIP2, GCNT3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 2253479	NM_004751.3(GCNT3):c.53G>A (p.Cys18Tyr)	GCNT3 (C18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479022	NM_004751.3(GCNT3):c.54C>G (p.Cys18Trp)	GCNT3 (C18W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274446	NM_004751.3(GCNT3):c.89C>T (p.Ser30Phe)	GCNT3 (S30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281065	NM_004751.3(GCNT3):c.112G>C (p.Asp38His)	GCNT3 (D38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304626	NM_004751.3(GCNT3):c.115C>G (p.His39Asp)	GCNT3 (H39D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281067	NM_004751.3(GCNT3):c.129G>T (p.Glu43Asp)	GCNT3 (E43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099128	NM_004751.3(GCNT3):c.206A>G (p.Asn69Ser)	GCNT3 (N69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288116	NM_004751.3(GCNT3):c.217G>C (p.Val73Leu)	GCNT3 (V73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520788	NM_004751.3(GCNT3):c.235G>A (p.Glu79Lys)	GCNT3 (E79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220392	NM_004751.3(GCNT3):c.250G>A (p.Ala84Thr)	GCNT3 (A84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312160	NM_004751.3(GCNT3):c.257T>G (p.Leu86Arg)	GCNT3 (L86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219162	NM_004751.3(GCNT3):c.304C>T (p.His102Tyr)	GCNT3 (H102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099129	NM_004751.3(GCNT3):c.382G>A (p.Glu128Lys)	GCNT3 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482174	NM_004751.3(GCNT3):c.385G>A (p.Val129Met)	GCNT3 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479624	NM_004751.3(GCNT3):c.391T>C (p.Phe131Leu)	GCNT3 (F131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281068	NM_004751.3(GCNT3):c.420T>A (p.His140Gln)	GCNT3 (H140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280489	NM_004751.3(GCNT3):c.420T>G (p.His140Gln)	GCNT3 (H140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774914	NM_004751.3(GCNT3):c.451C>T (p.Arg151Ter)	GCNT3 (R151*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2337324	NM_004751.3(GCNT3):c.580C>T (p.Arg194Trp)	GCNT3 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387989	NM_004751.3(GCNT3):c.581G>A (p.Arg194Gln)	GCNT3 (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099130	NM_004751.3(GCNT3):c.607G>A (p.Val203Met)	GCNT3 (V203M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335854	NM_004751.3(GCNT3):c.628A>G (p.Met210Val)	GCNT3 (M210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099131	NM_004751.3(GCNT3):c.645G>T (p.Gln215His)	GCNT3 (Q215H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281066	NM_004751.3(GCNT3):c.686C>T (p.Thr229Met)	GCNT3 (T229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330000	NM_004751.3(GCNT3):c.811G>C (p.Val271Leu)	GCNT3 (V271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526813	NM_004751.3(GCNT3):c.824C>T (p.Thr275Ile)	GCNT3 (T275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219868	NM_004751.3(GCNT3):c.830A>G (p.His277Arg)	GCNT3 (H277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385201	NM_004751.3(GCNT3):c.881C>T (p.Thr294Ile)	GCNT3 (T294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339250	NM_004751.3(GCNT3):c.958G>C (p.Glu320Gln)	GCNT3 (E320Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477891	NM_004751.3(GCNT3):c.979A>G (p.Ser327Gly)	GCNT3 (S327G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281069	NM_004751.3(GCNT3):c.1021T>C (p.Trp341Arg)	GCNT3 (W341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099124	NM_004751.3(GCNT3):c.1043A>T (p.Asn348Ile)	GCNT3 (N348I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099125	NM_004751.3(GCNT3):c.1081G>T (p.Ala361Ser)	GCNT3 (A225S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409400	NM_004751.3(GCNT3):c.1139C>T (p.Ala380Val)	GCNT3 (A380V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294277	NM_004751.3(GCNT3):c.1163G>A (p.Arg388Gln)	GCNT3 (R388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591697	NM_004751.3(GCNT3):c.1200G>C (p.Trp400Cys)	GCNT3 (W400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376722	NM_004751.3(GCNT3):c.1261C>A (p.Leu421Ile)	GCNT3 (L421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099126	NM_004751.3(GCNT3):c.1273G>A (p.Glu425Lys)	GCNT3 (E289K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099127	NM_004751.3(GCNT3):c.1282C>G (p.Leu428Val)	GCNT3 (L428V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224204	NM_004751.3(GCNT3):c.1307C>G (p.Thr436Ser)	GCNT3 (T436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815724	GRCh37/hg19 15q22.2(chr15:59592936-60360150)x1	BNIP2, FAM81A +4 more	Copy number loss	not provided	GUncertain significance
Select item 685946	GRCh37/hg19 15q22.2(chr15:59862040-59970994)x3	BNIP2, GCNT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic

ClinVar

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Items: 59