GCNT7[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 2203777	NM_080615.1:c.17C>A	GCNT7, RTF2	Single nucleotide variant	not specified	GUncertain significance
Select item 3156836	NM_016407.5(RTF2):c.502G>A (p.Asp168Asn)	GCNT7, RTF2 (D168N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156838	NM_016407.5(RTF2):c.518A>G (p.Asn173Ser)	GCNT7, RTF2 (N203S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156839	NM_016407.5(RTF2):c.541G>A (p.Val181Met)	GCNT7, RTF2 (V211M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315632	NM_016407.5(RTF2):c.553A>G (p.Arg185Gly)	GCNT7, RTF2 (R215G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156840	NM_016407.5(RTF2):c.605C>T (p.Pro202Leu)	GCNT7, RTF2 (P202L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156841	NM_016407.5(RTF2):c.634G>T (p.Asp212Tyr)	GCNT7, RTF2 (D212Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156842	NM_016407.5(RTF2):c.642T>A (p.Ser214Arg)	GCNT7, RTF2 (S214R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156843	NM_016407.5(RTF2):c.674C>T (p.Thr225Ile)	GCNT7, RTF2 (T255I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156845	NM_016407.5(RTF2):c.726G>C (p.Leu242Phe)	GCNT7, RTF2 (L272F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156847	NM_016407.5(RTF2):c.801G>T (p.Arg267Ser)	GCNT7, RTF2 (R266S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156848	NM_016407.5(RTF2):c.808G>A (p.Ala270Thr)	GCNT7, RTF2 (A269T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596704	NM_016407.5(RTF2):c.814A>G (p.Ser272Gly)	GCNT7, RTF2 (S271G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315631	NM_016407.5(RTF2):c.884C>T (p.Ser295Phe)	GCNT7, RTF2 (S325F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315630	NM_016407.5(RTF2):c.889C>T (p.His297Tyr)	GCNT7, RTF2 (H327Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410810	NM_001012971.4(FAM209A):c.8C>T (p.Thr3Met)	FAM209A, GCNT7 (T3M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092243	NM_001012971.4(FAM209A):c.20C>T (p.Ser7Phe)	FAM209A, GCNT7 (S7F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458858	NM_001012971.4(FAM209A):c.98A>G (p.Gln33Arg)	FAM209A, GCNT7 (Q33R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385893	NM_001012971.4(FAM209A):c.133C>T (p.Arg45Trp)	FAM209A, GCNT7 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358762	NM_001012971.4(FAM209A):c.319C>T (p.Pro107Ser)	FAM209A, GCNT7 (P107S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2528468	NM_001012971.4(FAM209A):c.340A>G (p.Asn114Asp)	FAM209A, GCNT7 (N114D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442642	GRCh37/hg19 20q13.2-13.31(chr20:54541125-55162415)x3	AURKA, CASS4 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 3281077	NM_080615.1:c.164C>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3281076	NM_080615.1:c.979G>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3281075	NM_080615.1:c.1078G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3281073	NM_080615.1:c.853A>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099146	NM_080615.1:c.605T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099145	NM_080615.1:c.442A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099144	NM_080615.1:c.278G>A	GCNT7	Single nucleotide variant	not specified	GLikely benign
Select item 3099143	NM_080615.1:c.242A>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099142	NM_080615.1:c.206T>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099141	NM_080615.1:c.194A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099140	NM_080615.1:c.1196G>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099139	NM_080615.1:c.1193G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099138	NM_080615.1:c.1177G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099137	NM_080615.1:c.1113G>A	GCNT7	Single nucleotide variant	not specified	GLikely benign
Select item 3099136	NM_080615.1:c.1052A>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 3099135	NM_080615.1:c.1034G>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2598852	NM_080615.1:c.925C>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2569203	NM_080615.1:c.1162A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2563384	NM_080615.1:c.658T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2552156	NM_080615.1:c.564G>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2546705	NM_080615.1:c.923T>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2533130	NM_080615.1:c.53G>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2518455	NM_080615.1:c.1235T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2509424	NM_080615.1:c.801C>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2488700	NM_080615.1:c.53G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2477450	NM_080615.1:c.356A>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2477333	NM_080615.1:c.454A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2462230	NM_080615.1:c.901A>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2460285	NM_080615.1:c.367A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2403432	NM_080615.1:c.427G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2384979	NM_080615.1:c.1028G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2384460	NM_080615.1:c.133T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2384402	NM_080615.1:c.1174G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2353239	NM_080615.1:c.1277T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2294243	NM_080615.1:c.1016G>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2276318	NM_080615.1:c.416G>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2265766	NM_080615.1:c.185C>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2246063	NM_080615.1:c.673T>C	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2228225	NM_080615.1:c.769A>G	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2223234	NM_080615.1:c.1096G>A	GCNT7	Single nucleotide variant	not specified	GUncertain significance
Select item 2220380	NM_080615.1:c.1163C>T	GCNT7	Single nucleotide variant	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 78