SNTG2[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2615973	NM_018968.4(SNTG2):c.103G>A (p.Glu35Lys)	SNTG2 (E35K)	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 3321239	NM_018968.4(SNTG2):c.112G>A (p.Glu38Lys)	SNTG2 (E38K)	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 2395486	NM_018968.4(SNTG2):c.128T>C (p.Ile43Thr)	SNTG2 (I43T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 780020	NM_018968.4(SNTG2):c.149A>C (p.Glu50Ala)	SNTG2 (E50A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713266	NM_018968.4(SNTG2):c.171A>G (p.Gln57=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2539291	NM_018968.4(SNTG2):c.203G>A (p.Gly68Asp)	SNTG2 (G68D)	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 3167104	NM_018968.4(SNTG2):c.217A>G (p.Thr73Ala)	SNTG2 (T73A)	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 3167105	NM_018968.4(SNTG2):c.349G>T (p.Val117Leu)	SNTG2 (V117L)	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 767778	NM_018968.4(SNTG2):c.468G>A (p.Arg156=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 739545	NM_018968.4(SNTG2):c.477G>A (p.Pro159=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 713036	NM_018968.4(SNTG2):c.516C>T (p.Ser172=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 721474	NM_018968.4(SNTG2):c.558C>T (p.Ser186=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2303468	NM_018968.4(SNTG2):c.584G>A (p.Ser195Asn)	SNTG2 (S195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3167108	NM_018968.4(SNTG2):c.638A>G (p.Glu213Gly)	SNTG2 (E213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2347300	NM_018968.4(SNTG2):c.644G>A (p.Arg215His)	SNTG2 (R215H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724334	NM_018968.4(SNTG2):c.663C>G (p.Ser221=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 750974	NM_018968.4(SNTG2):c.693G>A (p.Arg231=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2247852	NM_018968.4(SNTG2):c.725A>G (p.Asn242Ser)	SNTG2 (N242S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 729107	NM_018968.4(SNTG2):c.813G>A (p.Ala271=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2454908	NM_018968.4(SNTG2):c.860C>T (p.Ala287Val)	SNTG2 (A287V)	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 623404	NM_018968.4(SNTG2):c.883G>C (p.Asp295His)	SNTG2 (D295H)	Single nucleotide variant (missense variant)	High myopia	GUncertain significance
Select item 746865	NM_018968.4(SNTG2):c.894G>A (p.Val298=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2603938	NM_018968.4(SNTG2):c.984C>A (p.Phe328Leu)	SNTG2 (F328L)	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 3167098	NM_018968.4(SNTG2):c.1063T>C (p.Phe355Leu)	SNTG2 (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747749	NM_018968.4(SNTG2):c.1119T>C (p.Tyr373=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2473006	NM_018968.4(SNTG2):c.1160A>G (p.Tyr387Cys)	SNTG2 (Y387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736849	NM_018968.4(SNTG2):c.1179C>T (p.Ala393=)	SNTG2	Single nucleotide variant (synonymous variant)	not provided	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 2211453	NM_018968.4(SNTG2):c.1280C>G (p.Thr427Ser)	SNTG2 (T427S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3167102	NM_018968.4(SNTG2):c.1339T>A (p.Phe447Ile)	SNTG2 (F447I)	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 2597037	NM_018968.4(SNTG2):c.1364A>G (p.Glu455Gly)	SNTG2 (E455G)	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 2690053	NM_018968.4(SNTG2):c.1438C>T (p.Arg480Ter)	SNTG2 (R480*)	Single nucleotide variant (nonsense)	not provided	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 2312783	NM_018968.4(SNTG2):c.1439G>C (p.Arg480Pro)	SNTG2 (R480P)	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 2363480	NM_018968.4(SNTG2):c.1502A>G (p.Gln501Arg)	SNTG2 (Q501R)	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 775703	NM_018968.4(SNTG2):c.1570G>C (p.Gly524Arg)	SNTG2 (G524R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1808094	GRCh37/hg19 2p25.3(chr2:1033756-1252097)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 980461	GRCh37/hg19 2p25.3(chr2:936693-989963)x1	SNTG2	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 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 687448	GRCh37/hg19 2p25.3(chr2:922539-985369)x1	SNTG2	Copy number loss	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 685096	GRCh37/hg19 2p25.3(chr2:776559-1037783)x3	SNTG2	Copy number gain	not provided	GUncertain significance
Select item 562526	GRCh37/hg19 2p25.3(chr2:1080273-1231315)x1	SNTG2	Copy number loss	not provided	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: 77