ClinVar for Gene (Select 54221) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321241	NM_018968.4(SNTG2):c.494C>T (p.Pro165Leu)	SNTG2 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321239	NM_018968.4(SNTG2):c.112G>A (p.Glu38Lys)	SNTG2 (E38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321238	NM_018968.4(SNTG2):c.31G>A (p.Ala11Thr)	SNTG2, SNTG2-AS1 (A11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321237	NM_018968.4(SNTG2):c.778T>C (p.Tyr260His)	SNTG2 (Y260H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321236	NM_018968.4(SNTG2):c.802T>C (p.Trp268Arg)	SNTG2 (W268R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321235	NM_018968.4(SNTG2):c.808C>T (p.Arg270Trp)	SNTG2 (R270W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242306	GRCh37/hg19 2p25.3(chr2:11314-3033976)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 3167108	NM_018968.4(SNTG2):c.638A>G (p.Glu213Gly)	SNTG2 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167107	NM_018968.4(SNTG2):c.533G>C (p.Gly178Ala)	SNTG2 (G178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167105	NM_018968.4(SNTG2):c.349G>T (p.Val117Leu)	SNTG2 (V117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167104	NM_018968.4(SNTG2):c.217A>G (p.Thr73Ala)	SNTG2 (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167103	NM_018968.4(SNTG2):c.17C>T (p.Pro6Leu)	SNTG2, SNTG2-AS1 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167102	NM_018968.4(SNTG2):c.1339T>A (p.Phe447Ile)	SNTG2 (F447I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167101	NM_018968.4(SNTG2):c.1298T>C (p.Met433Thr)	SNTG2 (M433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167099	NM_018968.4(SNTG2):c.124G>A (p.Asp42Asn)	SNTG2 (D42N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167098	NM_018968.4(SNTG2):c.1063T>C (p.Phe355Leu)	SNTG2 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2690053	NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter)	SNTG2 (R480*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2685847	GRCh37/hg19 2p25.3(chr2:210212-1048484)x3	ACP1, ALKAL2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685032	GRCh37/hg19 2p25.3(chr2:663174-1352586)x4	SNTG2, TMEM18	Copy number gain	not provided	GUncertain significance
Select item 2684398	GRCh37/hg19 2p25.3(chr2:12771-1030521)x1	ACP1, ALKAL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2671972	GRCh37/hg19 2p25.3(chr2:12770-2832894)x1	ACP1, ALKAL2 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 2615973	NM_018968.4(SNTG2):c.103G>A (p.Glu35Lys)	SNTG2 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603938	NM_018968.4(SNTG2):c.984C>A (p.Phe328Leu)	SNTG2 (F328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597037	NM_018968.4(SNTG2):c.1364A>G (p.Glu455Gly)	SNTG2 (E455G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539291	NM_018968.4(SNTG2):c.203G>A (p.Gly68Asp)	SNTG2 (G68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533017	NM_018968.4(SNTG2):c.1048C>T (p.Leu350Phe)	SNTG2 (L350F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522923	NM_018968.4(SNTG2):c.211C>T (p.Arg71Cys)	SNTG2 (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510771	NM_018968.4(SNTG2):c.1439G>A (p.Arg480Gln)	SNTG2 (R480Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491885	NM_018968.4(SNTG2):c.384T>G (p.His128Gln)	SNTG2 (H128Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481230	NM_018968.4(SNTG2):c.1379A>C (p.Asn460Thr)	SNTG2 (N460T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478383	NM_018968.4(SNTG2):c.952C>G (p.Pro318Ala)	SNTG2 (P318A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473818	NM_018968.4(SNTG2):c.1343C>T (p.Ala448Val)	SNTG2 (A448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473006	NM_018968.4(SNTG2):c.1160A>G (p.Tyr387Cys)	SNTG2 (Y387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469388	NM_018968.4(SNTG2):c.703G>A (p.Gly235Arg)	SNTG2 (G235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458028	NM_018968.4(SNTG2):c.476C>T (p.Pro159Leu)	SNTG2 (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456981	NM_018968.4(SNTG2):c.1495G>A (p.Glu499Lys)	SNTG2 (E499K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454908	NM_018968.4(SNTG2):c.860C>T (p.Ala287Val)	SNTG2 (A287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411505	NM_018968.4(SNTG2):c.1561G>A (p.Val521Met)	SNTG2 (V521M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407416	NM_018968.4(SNTG2):c.559G>A (p.Gly187Ser)	SNTG2 (G187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395486	NM_018968.4(SNTG2):c.128T>C (p.Ile43Thr)	SNTG2 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392645	NM_018968.4(SNTG2):c.683G>A (p.Arg228His)	SNTG2 (R228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367656	NM_018968.4(SNTG2):c.846G>T (p.Gln282His)	SNTG2 (Q282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363481	NM_018968.4(SNTG2):c.869G>A (p.Cys290Tyr)	SNTG2 (C290Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363480	NM_018968.4(SNTG2):c.1502A>G (p.Gln501Arg)	SNTG2 (Q501R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360735	NM_018968.4(SNTG2):c.201G>C (p.Gln67His)	SNTG2 (Q67H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354617	NM_018968.4(SNTG2):c.1277G>A (p.Arg426Lys)	SNTG2 (R426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347300	NM_018968.4(SNTG2):c.644G>A (p.Arg215His)	SNTG2 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321956	NM_018968.4(SNTG2):c.43C>G (p.Arg15Gly)	SNTG2, SNTG2-AS1 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316369	NM_018968.4(SNTG2):c.91C>A (p.Leu31Met)	SNTG2 (L31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312783	NM_018968.4(SNTG2):c.1439G>C (p.Arg480Pro)	SNTG2 (R480P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309816	NM_018968.4(SNTG2):c.110C>A (p.Ser37Tyr)	SNTG2 (S37Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303468	NM_018968.4(SNTG2):c.584G>A (p.Ser195Asn)	SNTG2 (S195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293822	NM_018968.4(SNTG2):c.1142T>C (p.Phe381Ser)	SNTG2 (F381S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289809	NM_018968.4(SNTG2):c.224C>A (p.Thr75Lys)	SNTG2 (T75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247852	NM_018968.4(SNTG2):c.725A>G (p.Asn242Ser)	SNTG2 (N242S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2215632	NM_018968.4(SNTG2):c.643C>T (p.Arg215Cys)	SNTG2 (R215C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211453	NM_018968.4(SNTG2):c.1280C>G (p.Thr427Ser)	SNTG2 (T427S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808728	GRCh37/hg19 2p25.3(chr2:12771-1947832)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808535	GRCh37/hg19 2p25.3(chr2:1118313-1604447)x1	SNTG2, TPO	Copy number loss	not provided	GUncertain significance
Select item 1808094	GRCh37/hg19 2p25.3(chr2:1033756-1252097)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527737	GRCh37/hg19 2p25.3(chr2:637829-1945590)	MYT1L, PXDN +3 more	Copy number loss	not specified	GPathogenic
Select item 1527726	GRCh37/hg19 2p25.3(chr2:528352-2564992)	MYT1L, PXDN +3 more	Copy number loss	not specified	GPathogenic
Select item 1330210	GRCh37/hg19 2p25.3(chr2:10501-2386917)x1	PXDN, ACP1 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 980461	GRCh37/hg19 2p25.3(chr2:936693-989963)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 980460	GRCh37/hg19 2p25.3(chr2:12770-1126253)x1	SH3YL1, SNTG2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 980459	GRCh37/hg19 2p25.3(chr2:12770-1680334)x1	FAM110C, ALKAL2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 979984	GRCh37/hg19 2p25.3(chr2:788526-1066793)x3	SNTG2	Copy number gain	not provided	GLikely benign
Select item 814210	GRCh37/hg19 2p25.3(chr2:1364047-1727590)x3	PXDN, TPO +1 more	Copy number gain	not provided	GLikely benign
Select item 814209	GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3	ADI1, ALLC +10 more	Copy number gain	not provided	GUncertain significance
Select item 814208	GRCh37/hg19 2p25.3(chr2:959840-1655144)x3	TPO, SNTG2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814206	GRCh37/hg19 2p25.3(chr2:12770-3000954)x1	ALKAL2, MYT1L +7 more	Copy number loss	not provided	GPathogenic
Select item 789265	NM_018968.4(SNTG2):c.611C>T (p.Ser204Leu)	SNTG2 (S204L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780020	NM_018968.4(SNTG2):c.149A>C (p.Glu50Ala)	SNTG2 (E50A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775703	NM_018968.4(SNTG2):c.1570G>C (p.Gly524Arg)	SNTG2 (G524R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767778	NM_018968.4(SNTG2):c.468G>A (p.Arg156=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750974	NM_018968.4(SNTG2):c.693G>A (p.Arg231=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747749	NM_018968.4(SNTG2):c.1119T>C (p.Tyr373=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746865	NM_018968.4(SNTG2):c.894G>A (p.Val298=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739545	NM_018968.4(SNTG2):c.477G>A (p.Pro159=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736849	NM_018968.4(SNTG2):c.1179C>T (p.Ala393=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729107	NM_018968.4(SNTG2):c.813G>A (p.Ala271=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724559	NM_018968.4(SNTG2):c.143C>T (p.Thr48Met)	SNTG2 (T48M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724334	NM_018968.4(SNTG2):c.663C>G (p.Ser221=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721474	NM_018968.4(SNTG2):c.558C>T (p.Ser186=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713266	NM_018968.4(SNTG2):c.171A>G (p.Gln57=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713036	NM_018968.4(SNTG2):c.516C>T (p.Ser172=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689229	GRCh37/hg19 2p25.3(chr2:1091420-1231315)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 688828	GRCh37/hg19 2p25.3(chr2:788889-1053456)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 688787	GRCh37/hg19 2p25.3(chr2:788889-1053456)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 688279	GRCh37/hg19 2p25.3(chr2:12770-2348876)x1	ACP1, ALKAL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 687448	GRCh37/hg19 2p25.3(chr2:922539-985369)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 686794	GRCh37/hg19 2p25.3(chr2:1269373-1542297)x3	SNTG2, TPO	Copy number gain	not provided	GUncertain significance
Select item 686793	GRCh37/hg19 2p25.3(chr2:1097715-1231315)x4	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 686589	GRCh37/hg19 2p25.3(chr2:1193606-1315346)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 686579	GRCh37/hg19 2p25.3(chr2:1131015-1345948)x1	SNTG2	Copy number loss	not provided	GUncertain significance
Select item 686549	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686548	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic

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