Related gene-specific medical variations for Gene (Select 140687) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3092243	NM_001012971.4(FAM209A):c.20C>T (p.Ser7Phe)	FAM209A, GCNT7 (S7F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598852	NM_080615.1:c.925C>T	GCNT7	Single nucleotide variant	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 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 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 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 2458858	NM_001012971.4(FAM209A):c.98A>G (p.Gln33Arg)	FAM209A, GCNT7 (Q33R)	Single nucleotide variant (missense variant)	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 2403432	NM_080615.1:c.427G>A	GCNT7	Single nucleotide 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 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 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 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
Select item 2203777	NM_080615.1:c.17C>A	RTF2, GCNT7	Single nucleotide variant	not specified	GUncertain significance

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Links from Gene

Items: 62