ClinVar for Gene (Select 89970) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315591	NM_133368.3(RSPRY1):c.116C>T (p.Thr39Ile)	RSPRY1 (T39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315590	NM_133368.3(RSPRY1):c.104G>T (p.Gly35Val)	RSPRY1 (G35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243644	NC_000016.9:g.(?_56226148)_(57286179_?)del	AMFR, ARL2BP +24 more	Deletion	not provided	GPathogenic
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 3156773	NM_133368.3(RSPRY1):c.190G>A (p.Glu64Lys)	RSPRY1 (E64K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156772	NM_133368.3(RSPRY1):c.1600G>A (p.Val534Ile)	RSPRY1 (V534I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3023349	NM_133368.3(RSPRY1):c.748C>T (p.Leu250=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016892	NM_133368.3(RSPRY1):c.1212C>T (p.Cys404=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013562	NM_133368.3(RSPRY1):c.643+14A>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997214	NM_133368.3(RSPRY1):c.822A>C (p.Thr274=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986800	NM_133368.3(RSPRY1):c.1274-4C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969287	NM_133368.3(RSPRY1):c.703-20_703-19insTA	RSPRY1	Insertion (intron variant)	not provided	GLikely benign
Select item 2960315	NM_133368.3(RSPRY1):c.1416A>G (p.Gln472=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958860	NM_133368.3(RSPRY1):c.1395A>G (p.Ala465=)	RSPRY1	Single nucleotide variant (synonymous 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 2888121	NM_133368.3(RSPRY1):c.36C>T (p.Ser12=)	RSPRY1	Single nucleotide variant (synonymous 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 2876082	NM_133368.3(RSPRY1):c.1377-16C>T	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 2827007	NM_133368.3(RSPRY1):c.902-11T>C	RSPRY1	Single nucleotide variant (intron 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 2809419	NM_133368.3(RSPRY1):c.66T>C (p.Thr22=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802525	NM_133368.3(RSPRY1):c.1018-12dup	RSPRY1	Duplication (intron variant)	not provided	GBenign
Select item 2799779	NM_133368.3(RSPRY1):c.354T>C (p.Asp118=)	RSPRY1	Single nucleotide variant (synonymous 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 2772518	NM_133368.3(RSPRY1):c.404-8G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2744657	NM_133368.3(RSPRY1):c.901+7G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2525380	NM_133368.3(RSPRY1):c.244C>T (p.Arg82Trp)	RSPRY1 (R82W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427211	NC_000016.9:g.(?_57242967)_(57243119_?)del	RSPRY1	Deletion	not provided	GPathogenic
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2418173	NM_133368.3(RSPRY1):c.744C>T (p.Ile248=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2293928	NM_133368.3(RSPRY1):c.1382G>T (p.Gly461Val)	RSPRY1 (G461V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2228628	NM_133368.3(RSPRY1):c.769+3A>G	RSPRY1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
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 2172151	NM_133368.3(RSPRY1):c.351-4C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2167239	NM_133368.3(RSPRY1):c.408A>C (p.Glu136Asp)	RSPRY1 (E136D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111954	NM_133368.3(RSPRY1):c.1311G>A (p.Lys437=)	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 2085333	NM_133368.3(RSPRY1):c.1530-4T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069953	NM_133368.3(RSPRY1):c.1568G>A (p.Arg523Gln)	RSPRY1 (R523Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2027992	NM_133368.3(RSPRY1):c.530A>G (p.Lys177Arg)	RSPRY1 (K177R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024229	NM_133368.3(RSPRY1):c.517-13T>G	RSPRY1	Single nucleotide variant (intron 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 1995660	NM_133368.3(RSPRY1):c.1684C>T (p.Arg562Cys)	RSPRY1 (R562C)	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 1982997	NM_133368.3(RSPRY1):c.1538G>A (p.Arg513His)	RSPRY1 (R513H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975263	NM_133368.3(RSPRY1):c.1491C>T (p.Tyr497=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971679	NM_133368.3(RSPRY1):c.769+20G>A	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 1957142	NM_133368.3(RSPRY1):c.902-15C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956661	NM_133368.3(RSPRY1):c.1279A>T (p.Thr427Ser)	RSPRY1 (T427S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1949545	NM_133368.3(RSPRY1):c.693A>G (p.Leu231=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946416	NM_133368.3(RSPRY1):c.1282G>T (p.Val428Leu)	RSPRY1 (V428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931932	NM_133368.3(RSPRY1):c.901+20T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931806	NM_133368.3(RSPRY1):c.1162-12G>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930430	NM_133368.3(RSPRY1):c.1113C>T (p.Gly371=)	RSPRY1	Single nucleotide variant (synonymous 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 1917499	NM_133368.3(RSPRY1):c.859C>T (p.Arg287Cys)	RSPRY1 (R287C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915642	NM_133368.3(RSPRY1):c.1200G>A (p.Ala400=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898867	NM_133368.3(RSPRY1):c.309A>G (p.Leu103=)	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 1898233	NM_133368.3(RSPRY1):c.703-20T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897536	NM_133368.3(RSPRY1):c.65C>G (p.Thr22Ser)	RSPRY1 (T22S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1895777	NM_133368.3(RSPRY1):c.901+8G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
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 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1670963	NM_133368.3(RSPRY1):c.1497C>T (p.Phe499=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668005	NM_133368.3(RSPRY1):c.1274-15C>T	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667819	NM_133368.3(RSPRY1):c.1623A>G (p.Pro541=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637703	NM_133368.3(RSPRY1):c.1634+14T>C	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635864	NM_133368.3(RSPRY1):c.1017+19G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633350	NM_133368.3(RSPRY1):c.660T>C (p.Gly220=)	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 (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1623331	NM_133368.3(RSPRY1):c.1529+12G>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 1621162	NM_133368.3(RSPRY1):c.6C>T (p.Ile2=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612019	NM_133368.3(RSPRY1):c.232C>A (p.Arg78=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607883	NM_133368.3(RSPRY1):c.404-18T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1606673	NM_133368.3(RSPRY1):c.1074C>T (p.Ala358=)	RSPRY1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1600628	NM_133368.3(RSPRY1):c.1376+16C>T	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 1586508	NM_133368.3(RSPRY1):c.516+11A>G	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585049	NM_133368.3(RSPRY1):c.1018-17T>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1582279	NM_133368.3(RSPRY1):c.1634+7G>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 1574939	NM_133368.3(RSPRY1):c.1161+15G>A	RSPRY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544953	NM_133368.3(RSPRY1):c.1274-7C>T	RSPRY1	Single nucleotide variant (intron 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 1535684	NM_133368.3(RSPRY1):c.1376+15T>C	RSPRY1	Single nucleotide variant (intron variant)	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

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