RIN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	LOC130065467, LOC130065468 +117 more	Copy number loss	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 3049804	NM_018993.4(RIN2):c.-36-2899G>A	RIN2	Single nucleotide variant (5 prime UTR variant +1 more)	RIN2-related condition	GLikely benign
Select item 1383748	NM_018993.4(RIN2):c.-36-2890G>T	RIN2 (D3Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1916938	NM_018993.4(RIN2):c.-36-2886C>G	RIN2 (S4*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1072404	NM_018993.4(RIN2):c.-36-2881del	RIN2 (S6fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 445625	NM_018993.4(RIN2):c.-36-2865del	RIN2 (L11fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 2068041	NM_018993.4(RIN2):c.-36-2861C>T	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2010701	NM_018993.4(RIN2):c.-36-2842A>T	RIN2 (R19*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1498298	NM_018993.4(RIN2):c.-36-2841G>C	RIN2 (R19T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2060142	NM_018993.4(RIN2):c.-36-2836A>G	RIN2 (S21G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2056418	NM_018993.4(RIN2):c.-36-2825G>C	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2042368	NM_018993.4(RIN2):c.-36-2817T>C	RIN2 (V27A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701590	NM_018993.4(RIN2):c.-36-2815T>C	RIN2 (W28R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 591209	NM_018993.4(RIN2):c.-36-2791del	RIN2 (T36fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1461179	NM_018993.4(RIN2):c.-36-2790C>T	RIN2 (T36I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1462909	NM_018993.4(RIN2):c.-36-2787C>T	RIN2 (T37M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484188	NM_018993.4(RIN2):c.-36-2786G>A	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2060351	NM_018993.4(RIN2):c.-36-2776T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890660	NM_018993.4(RIN2):c.-36-2775T>C	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1983575	NM_018993.4(RIN2):c.-36-16A>G	RIN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2179695	NM_018993.4(RIN2):c.-36-15T>G	RIN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1926530	NM_018993.4(RIN2):c.-29C>T	RIN2 (P40L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150436	NM_018993.4(RIN2):c.-28G>A	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 1398325	NM_018993.4(RIN2):c.-24T>C	RIN2 (C42R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2038788	NM_018993.4(RIN2):c.-16A>C	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
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 722681	NM_018993.4(RIN2):c.21C>A (p.Gly7=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 701268	NM_018993.4(RIN2):c.21C>T (p.Gly7=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 444567	NM_018993.4(RIN2):c.22G>A (p.Ala8Thr)	RIN2 (A8T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979544	NM_018993.4(RIN2):c.25C>T (p.Arg9Cys)	RIN2 (R58C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1359762	NM_018993.4(RIN2):c.28G>A (p.Gly10Ser)	RIN2 (G59S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2703786	NM_018993.4(RIN2):c.30T>C (p.Gly10=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2140100	NM_018993.4(RIN2):c.40C>T (p.Arg14Ter)	RIN2 (R14* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 1985897	NM_018993.4(RIN2):c.43G>A (p.Gly15Arg)	RIN2 (G15R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956833	NM_018993.4(RIN2):c.46del (p.Ser16fs)	RIN2 (S16fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2959706	NM_018993.4(RIN2):c.57+8G>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2414546	NM_018993.4(RIN2):c.68C>G (p.Thr23Arg)	RIN2 (T23R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2751044	NM_018993.4(RIN2):c.97C>T (p.Gln33Ter)	RIN2 (Q33* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
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 2195378	NM_018993.4(RIN2):c.105G>A (p.Met35Ile)	RIN2 (M35I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2635057	NM_018993.4(RIN2):c.106G>A (p.Val36Met)	RIN2 (V36M +1 more)	Single nucleotide variant (missense variant +1 more)	RIN2-related condition	GUncertain significance
Select item 2141873	NM_018993.4(RIN2):c.106G>T (p.Val36Leu)	RIN2 (V85L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1992612	NM_018993.4(RIN2):c.109C>G (p.Arg37Gly)	RIN2 (R37G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068463	NM_018993.4(RIN2):c.110G>A (p.Arg37Gln)	RIN2 (R37Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 624189	NM_018993.4(RIN2):c.118G>C (p.Val40Leu)	RIN2 (V40L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2793456	NM_018993.4(RIN2):c.131del (p.Asn44fs)	RIN2 (N44fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2006266	NM_018993.4(RIN2):c.132T>C (p.Asn44=)	RIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2008262	NM_018993.4(RIN2):c.158+13A>C	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1606741	NM_018993.4(RIN2):c.158+13A>G	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2084330	NM_018993.4(RIN2):c.158+20G>C	RIN2	Single nucleotide variant (intron variant)	not provided	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 1650530	NM_018993.4(RIN2):c.159-19C>A	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039815	NM_018993.4(RIN2):c.159-18C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1550777	NM_018993.4(RIN2):c.159-17G>A	RIN2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3015117	NM_018993.4(RIN2):c.159-16C>T	RIN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1963930	NM_018993.4(RIN2):c.160A>G (p.Met54Val)	RIN2 (M54V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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