RSPRY1[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 161

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 1621162	NM_133368.3(RSPRY1):c.6C>T (p.Ile2=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726447	NM_133368.3(RSPRY1):c.21C>T (p.Ala7=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888121	NM_133368.3(RSPRY1):c.36C>T (p.Ser12=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065086	NM_133368.3(RSPRY1):c.47G>T (p.Gly16Val)	RSPRY1 (G16V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897536	NM_133368.3(RSPRY1):c.65C>G (p.Thr22Ser)	RSPRY1 (T22S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2809419	NM_133368.3(RSPRY1):c.66T>C (p.Thr22=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325018	NM_133368.3(RSPRY1):c.109del (p.Ala37fs)	RSPRY1 (A37fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 746035	NM_133368.3(RSPRY1):c.111T>A (p.Ala37=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 218886	NM_133368.3(RSPRY1):c.121G>T (p.Gly41Cys)	RSPRY1 (G41C)	Single nucleotide variant (missense variant)	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	GPathogenic
Select item 1440892	NM_133368.3(RSPRY1):c.140G>A (p.Arg47Gln)	RSPRY1 (R47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2546723	NM_133368.3(RSPRY1):c.143A>T (p.Asp48Val)	RSPRY1 (D48V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1348788	NM_133368.3(RSPRY1):c.176A>G (p.Gln59Arg)	RSPRY1 (Q59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 720510	NM_133368.3(RSPRY1):c.189C>T (p.Ala63=)	RSPRY1	Single nucleotide variant (synonymous variant)	RSPRY1-related disorder +1 more	GBenign
Select item 3156773	NM_133368.3(RSPRY1):c.190G>A (p.Glu64Lys)	RSPRY1 (E64K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1462406	NM_133368.3(RSPRY1):c.202G>A (p.Val68Ile)	RSPRY1 (V68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1612019	NM_133368.3(RSPRY1):c.232C>A (p.Arg78=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1055394	NM_133368.3(RSPRY1):c.233G>A (p.Arg78Gln)	RSPRY1 (R78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2525380	NM_133368.3(RSPRY1):c.244C>T (p.Arg82Trp)	RSPRY1 (R82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898867	NM_133368.3(RSPRY1):c.309A>G (p.Leu103=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822579	NM_133368.3(RSPRY1):c.334C>A (p.Arg112=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1630174	NM_133368.3(RSPRY1):c.350+17C>T	RSPRY1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1519906	NM_133368.3(RSPRY1):c.350+18G>A	RSPRY1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1283466	NM_133368.3(RSPRY1):c.350+60G>A	RSPRY1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1259854	NM_133368.3(RSPRY1):c.351-167dup	RSPRY1	Duplication (intron variant)	not provided	GBenign
Select item 2172151	NM_133368.3(RSPRY1):c.351-4C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799779	NM_133368.3(RSPRY1):c.354T>C (p.Asp118=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1706547	NM_133368.3(RSPRY1):c.358G>T (p.Glu120Ter)	RSPRY1 (E120*)	Single nucleotide variant (nonsense)	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	GPathogenic
Select item 1607883	NM_133368.3(RSPRY1):c.404-18T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2772518	NM_133368.3(RSPRY1):c.404-8G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896917	NM_133368.3(RSPRY1):c.404-5C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167239	NM_133368.3(RSPRY1):c.408A>C (p.Glu136Asp)	RSPRY1 (E136D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3156774	NM_133368.3(RSPRY1):c.479T>C (p.Ile160Thr)	RSPRY1 (I160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752880	NM_133368.3(RSPRY1):c.484T>C (p.Leu162=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586508	NM_133368.3(RSPRY1):c.516+11A>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967108	NM_133368.3(RSPRY1):c.516+16T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024229	NM_133368.3(RSPRY1):c.517-13T>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027992	NM_133368.3(RSPRY1):c.530A>G (p.Lys177Arg)	RSPRY1 (K177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367897	NM_133368.3(RSPRY1):c.580A>G (p.Ser194Gly)	RSPRY1 (S194G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739240	NM_133368.3(RSPRY1):c.630C>T (p.Ala210=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496481	NM_133368.3(RSPRY1):c.631G>A (p.Glu211Lys)	RSPRY1 (E211K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013562	NM_133368.3(RSPRY1):c.643+14A>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783375	NM_133368.3(RSPRY1):c.643+17C>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269982	NM_133368.3(RSPRY1):c.644-224G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253607	NM_133368.3(RSPRY1):c.644-146A>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595893	NM_133368.3(RSPRY1):c.644-9T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2232110	NM_133368.3(RSPRY1):c.644G>T (p.Gly215Val)	RSPRY1 (G215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1633350	NM_133368.3(RSPRY1):c.660T>C (p.Gly220=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949545	NM_133368.3(RSPRY1):c.693A>G (p.Leu231=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539665	NM_133368.3(RSPRY1):c.702+24_702+27del	RSPRY1	Microsatellite (intron variant)	not provided	GBenign
Select item 1243937	NM_133368.3(RSPRY1):c.703-20dup	RSPRY1	Duplication (intron variant)	not provided	GBenign
Select item 2969287	NM_133368.3(RSPRY1):c.703-20_703-19insTA	RSPRY1	Insertion (intron variant)	not provided	GLikely benign
Select item 1898233	NM_133368.3(RSPRY1):c.703-20T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1621585	NM_133368.3(RSPRY1):c.703-19dup	RSPRY1	Duplication (intron variant)	not provided	GLikely benign
Select item 1621570	NM_133368.3(RSPRY1):c.703-12G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769899	NM_133368.3(RSPRY1):c.703-9G>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418173	NM_133368.3(RSPRY1):c.744C>T (p.Ile248=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023349	NM_133368.3(RSPRY1):c.748C>T (p.Leu250=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2228628	NM_133368.3(RSPRY1):c.769+3A>G	RSPRY1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1971679	NM_133368.3(RSPRY1):c.769+20G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286559	NM_133368.3(RSPRY1):c.770-169C>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2228295	NM_133368.3(RSPRY1):c.811C>T (p.Arg271Trp)	RSPRY1 (R271W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1021229	NM_133368.3(RSPRY1):c.812G>A (p.Arg271Gln)	RSPRY1 (R271Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2997214	NM_133368.3(RSPRY1):c.822A>C (p.Thr274=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018242	NM_133368.3(RSPRY1):c.858A>G (p.Lys286=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917499	NM_133368.3(RSPRY1):c.859C>T (p.Arg287Cys)	RSPRY1 (R287C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170557	NM_133368.3(RSPRY1):c.860G>A (p.Arg287His)	RSPRY1 (R287H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425585	NM_133368.3(RSPRY1):c.875G>C (p.Cys292Ser)	RSPRY1 (C292S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1022591	NM_133368.3(RSPRY1):c.901+5G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2744657	NM_133368.3(RSPRY1):c.901+7G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895777	NM_133368.3(RSPRY1):c.901+8G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931932	NM_133368.3(RSPRY1):c.901+20T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957142	NM_133368.3(RSPRY1):c.902-15C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827007	NM_133368.3(RSPRY1):c.902-11T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1052003	NM_133368.3(RSPRY1):c.902-9C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930374	NM_133368.3(RSPRY1):c.914G>A (p.Gly305Asp)	RSPRY1 (G305D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714705	NM_133368.3(RSPRY1):c.936A>G (p.Lys312=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511224	NM_133368.3(RSPRY1):c.946A>G (p.Ser316Gly)	RSPRY1 (S316G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984457	NM_133368.3(RSPRY1):c.960C>T (p.Ala320=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363940	NM_133368.3(RSPRY1):c.1006C>T (p.His336Tyr)	RSPRY1 (H336Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635864	NM_133368.3(RSPRY1):c.1017+19G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2802525	NM_133368.3(RSPRY1):c.1018-12dup	RSPRY1	Duplication (intron variant)	not provided	GBenign
Select item 1585049	NM_133368.3(RSPRY1):c.1018-17T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578898	NM_133368.3(RSPRY1):c.1056C>T (p.Cys352=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091527	NM_133368.3(RSPRY1):c.1064G>A (p.Cys355Tyr)	RSPRY1 (C355Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606673	NM_133368.3(RSPRY1):c.1074C>T (p.Ala358=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1930430	NM_133368.3(RSPRY1):c.1113C>T (p.Gly371=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898446	NM_133368.3(RSPRY1):c.1155C>T (p.Leu385=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1574939	NM_133368.3(RSPRY1):c.1161+15G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878484	NM_133368.3(RSPRY1):c.1161+19T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869407	NM_133368.3(RSPRY1):c.1161+19T>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289357	NM_133368.3(RSPRY1):c.1161+36T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262046	NM_133368.3(RSPRY1):c.1162-108A>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931806	NM_133368.3(RSPRY1):c.1162-12G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782895	NM_133368.3(RSPRY1):c.1170C>T (p.Tyr390=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 2