"GeneDx"[submitter] AND "RIN2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 669475	NM_018993.4(RIN2):c.-36-3284G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683996	NM_018993.4(RIN2):c.-36-3168C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218108	NM_018993.4(RIN2):c.-36-3077C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215702	NM_018993.4(RIN2):c.-36-2957_-36-2948del	RIN2	Deletion (intron variant)	not provided	GLikely benign
Select item 1205652	NM_018993.4(RIN2):c.-36-2957_-36-2949del	RIN2	Deletion (intron variant)	not provided	GLikely benign
Select item 1278212	NM_018993.4(RIN2):c.-36-2957del	RIN2	Deletion (intron variant)	not provided	GBenign
Select item 1276958	NM_018993.4(RIN2):c.-36-2935dup	RIN2	Duplication (intron variant)	not provided	GBenign
Select item 1228223	NM_018993.4(RIN2):c.-36-2954C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185800	NM_018993.4(RIN2):c.-36-2936_-36-2935dup	RIN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1257379	NM_018993.4(RIN2):c.-36-2935del	RIN2	Deletion (intron variant)	not provided	GBenign
Select item 1191188	NM_018993.4(RIN2):c.-36-2942_-36-2935del	RIN2	Deletion (intron variant)	not provided	GLikely benign
Select item 444566	NM_018993.4(RIN2):c.-36-2826C>T	RIN2 (P24L)	Single nucleotide variant (missense variant +1 more)	RIN2-related condition +2 more	GLikely benign
Select item 695680	NM_018993.4(RIN2):c.-36-2804C>A	RIN2 (F31L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 678599	NM_018993.4(RIN2):c.-36-2589G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182836	NM_018993.4(RIN2):c.-36-2528del	RIN2	Deletion (intron variant)	not provided	GBenign
Select item 1287433	NM_018993.4(RIN2):c.-36-2484G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683999	NM_018993.4(RIN2):c.-36-285A>G	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189754	NM_018993.4(RIN2):c.-36-267_-36-265dup	RIN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1226440	NM_018993.4(RIN2):c.-36-230G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292249	NM_018993.4(RIN2):c.-36-225T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 513779	NM_018993.4(RIN2):c.-25G>A	RIN2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 508228	NM_018993.4(RIN2):c.-20G>A	RIN2 (S43N)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 506374	NM_018993.4(RIN2):c.-11C>T	RIN2 (S46L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1187886	NM_018993.4(RIN2):c.41G>A (p.Arg14Gln)	RIN2 (R14Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 509141	NM_018993.4(RIN2):c.57+18T>C	RIN2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1278962	NM_018993.4(RIN2):c.57+23A>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679883	NM_018993.4(RIN2):c.57+36G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206825	NM_018993.4(RIN2):c.57+230G>T	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413036	NM_018993.4(RIN2):c.58-126_58-117del	RIN2	Deletion (intron variant)	not provided	GLikely benign
Select item 1186843	NM_018993.4(RIN2):c.58-117del	RIN2	Deletion (intron variant)	not provided	GLikely benign
Select item 679115	NM_018993.4(RIN2):c.58-65C>G	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 515801	NM_018993.4(RIN2):c.77C>T (p.Ser26Leu)	RIN2 (S26L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 696286	NM_018993.4(RIN2):c.78G>A (p.Ser26=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 212055	NM_018993.4(RIN2):c.84C>T (p.Ile28=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 390346	NM_018993.4(RIN2):c.85G>A (p.Gly29Arg)	RIN2 (G29R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1216611	NM_018993.4(RIN2):c.98A>G (p.Gln33Arg)	RIN2 (Q33R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513789	NM_018993.4(RIN2):c.144C>T (p.Pro48=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 517976	NM_018993.4(RIN2):c.158+8G>C	RIN2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1265326	NM_018993.4(RIN2):c.158+301T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199070	NM_018993.4(RIN2):c.159-95G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200368	NM_018993.4(RIN2):c.159-22G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507645	NM_018993.4(RIN2):c.189C>T (p.Ser63=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 387339	NM_018993.4(RIN2):c.212G>A (p.Cys71Tyr)	RIN2 (C71Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 624190	NM_018993.4(RIN2):c.217C>T (p.Arg73Trp)	RIN2 (R73W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1213033	NM_018993.4(RIN2):c.235A>G (p.Ser79Gly)	RIN2 (S128G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 425265	NM_018993.4(RIN2):c.247A>G (p.Arg83Gly)	RIN2 (R83G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1307587	NM_018993.4(RIN2):c.249G>C (p.Arg83Ser)	RIN2 (R132S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 511881	NM_018993.4(RIN2):c.252C>T (p.Leu84=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 696330	NM_018993.4(RIN2):c.276C>A (p.His92Gln)	RIN2 (H141Q +1 more)	Single nucleotide variant (missense variant +1 more)	RIN2-related condition +1 more	GLikely benign
Select item 493320	NM_018993.4(RIN2):c.277A>G (p.Thr93Ala)	RIN2 (T93A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430174	NM_018993.4(RIN2):c.338C>A (p.Ala113Asp)	RIN2 (A113D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307439	NM_018993.4(RIN2):c.344C>T (p.Pro115Leu)	RIN2 (P115L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 506800	NM_018993.4(RIN2):c.347C>T (p.Pro116Leu)	RIN2 (P116L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 683743	NM_018993.4(RIN2):c.352-313G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204523	NM_018993.4(RIN2):c.352-233A>G	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695911	NM_018993.4(RIN2):c.365A>G (p.His122Arg)	RIN2 (H171R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 387340	NM_018993.4(RIN2):c.375C>T (p.Thr125=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1190187	NM_018993.4(RIN2):c.403C>T (p.Arg135Cys)	RIN2 (R135C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1203399	NM_018993.4(RIN2):c.404G>A (p.Arg135His)	RIN2 (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 389389	NM_018993.4(RIN2):c.427C>T (p.Pro143Ser)	RIN2 (P143S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 392332	NM_018993.4(RIN2):c.447A>G (p.Ile149Met)	RIN2 (I149M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 517977	NM_018993.4(RIN2):c.463+12T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1270980	NM_018993.4(RIN2):c.463+83A>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191960	NM_018993.4(RIN2):c.463+244G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220514	NM_018993.4(RIN2):c.463+285C>G	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204377	NM_018993.4(RIN2):c.464-270dup	RIN2	Duplication (intron variant)	not provided	GLikely benign
Select item 1268542	NM_018993.4(RIN2):c.464-103T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203180	NM_018993.4(RIN2):c.464-74A>G	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390937	NM_018993.4(RIN2):c.471C>T (p.Ser157=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1219021	NM_018993.4(RIN2):c.508C>T (p.Arg170Trp)	RIN2 (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 514345	NM_018993.4(RIN2):c.536+16C>G	RIN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1240868	NM_018993.4(RIN2):c.536+197G>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211133	NM_018993.4(RIN2):c.537-236T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216361	NM_018993.4(RIN2):c.548C>T (p.Pro183Leu)	RIN2 (P183L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1198943	NM_018993.4(RIN2):c.586A>C (p.Lys196Gln)	RIN2 (K196Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 257655	NM_018993.4(RIN2):c.589T>A (p.Ser197Thr)	RIN2 (S197T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 501662	NM_018993.4(RIN2):c.590C>T (p.Ser197Leu)	RIN2 (S197L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 695438	NM_018993.4(RIN2):c.604G>A (p.Glu202Lys)	RIN2 (E251K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 668349	NM_018993.4(RIN2):c.609A>T (p.Glu203Asp)	RIN2 (E252D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 513321	NM_018993.4(RIN2):c.628+7G>A	RIN2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1265321	NM_018993.4(RIN2):c.628+87C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235139	NM_018993.4(RIN2):c.628+249G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288507	NM_018993.4(RIN2):c.628+268dup	RIN2	Duplication (intron variant)	not provided	GBenign
Select item 684004	NM_018993.4(RIN2):c.628+289C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207631	NM_018993.4(RIN2):c.629-39C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390642	NM_018993.4(RIN2):c.629-19C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511612	NM_018993.4(RIN2):c.629-8A>C	RIN2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 515317	NM_018993.4(RIN2):c.642C>T (p.Ser214=)	RIN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 515839	NM_018993.4(RIN2):c.651C>T (p.Asp217=)	RIN2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1800597	NM_018993.4(RIN2):c.680A>G (p.His227Arg)	RIN2 (H21R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 514356	NM_018993.4(RIN2):c.684G>A (p.Arg228=)	RIN2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1202235	NM_018993.4(RIN2):c.685C>T (p.Pro229Ser)	RIN2 (P229S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696069	NM_018993.4(RIN2):c.741T>C (p.Asn247=)	RIN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 421543	NM_018993.4(RIN2):c.797A>T (p.Asn266Ile)	RIN2 (N266I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2074728	NM_018993.4(RIN2):c.799G>C (p.Gly267Arg)	RIN2 (G316R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384713	NM_018993.4(RIN2):c.804C>T (p.Ala268=)	RIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 510697	NM_018993.4(RIN2):c.868C>A (p.Arg290=)	RIN2	Single nucleotide variant (synonymous variant)	RIN2-related condition +1 more	GBenign/Likely benign
Select item 514830	NM_018993.4(RIN2):c.903G>T (p.Thr301=)	RIN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1303295	NM_018993.4(RIN2):c.922C>G (p.Pro308Ala)	RIN2 (P102A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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