ClinVar for Gene (Select 23322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358176	NM_015272.5(RPGRIP1L):c.746A>G (p.Gln249Arg)	RPGRIP1L (Q249R)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3358090	NM_015272.5(RPGRIP1L):c.1643T>A (p.Val548Glu)	RPGRIP1L (V548E)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3357810	NM_015272.5(RPGRIP1L):c.230+711A>T	RPGRIP1L (R83S)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GLikely benign
Select item 3357659	NM_015272.5(RPGRIP1L):c.1168G>C (p.Ala390Pro)	RPGRIP1L (A390P)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3357638	NM_015272.5(RPGRIP1L):c.1477C>T (p.Arg493Cys)	RPGRIP1L (R493C)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3357420	NM_015272.5(RPGRIP1L):c.1083C>T (p.Asn361=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3357418	NM_015272.5(RPGRIP1L):c.1351-5T>G	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3357391	NM_015272.5(RPGRIP1L):c.1700-3C>T	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3357379	NM_015272.5(RPGRIP1L):c.2959-21G>A	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3357276	NM_015272.5(RPGRIP1L):c.157A>G (p.Arg53Gly)	RPGRIP1L (R53G)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356971	NM_015272.5(RPGRIP1L):c.230+701A>C	RPGRIP1L (E80A)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356794	NM_015272.5(RPGRIP1L):c.3083A>G (p.Asp1028Gly)	RPGRIP1L (D1028G +1 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356654	NM_015272.5(RPGRIP1L):c.1629T>C (p.Asp543=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3356602	NM_015272.5(RPGRIP1L):c.1829A>T (p.His610Leu)	RPGRIP1L (H610L)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356591	NM_015272.5(RPGRIP1L):c.2285G>A (p.Gly762Glu)	RPGRIP1L (G762E)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356573	NM_015272.5(RPGRIP1L):c.2077A>G (p.Ile693Val)	RPGRIP1L (I693V)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356412	NM_015272.5(RPGRIP1L):c.1421A>C (p.Asn474Thr)	RPGRIP1L (N474T)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356378	NM_015272.5(RPGRIP1L):c.230+815T>C	RPGRIP1L (M118T)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356344	NM_015272.5(RPGRIP1L):c.3254A>T (p.Asp1085Val)	RPGRIP1L (D1051V +1 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356343	NM_015272.5(RPGRIP1L):c.842C>T (p.Ala281Val)	RPGRIP1L (A281V)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356166	NM_015272.5(RPGRIP1L):c.233T>C (p.Met78Thr)	RPGRIP1L (M78T)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3356112	NM_015272.5(RPGRIP1L):c.2786C>T (p.Thr929Ile)	RPGRIP1L (T929I)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3355845	NM_015272.5(RPGRIP1L):c.432T>C (p.Gly144=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3355507	NM_015272.5(RPGRIP1L):c.3576A>G (p.Lys1192=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3355360	NM_015272.5(RPGRIP1L):c.3619A>T (p.Ile1207Phe)	RPGRIP1L (I1127F +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3354978	NM_015272.5(RPGRIP1L):c.2736T>G (p.Val912=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3354249	NM_015272.5(RPGRIP1L):c.1447_1459del (p.Val483fs)	RPGRIP1L (V483fs)	Deletion (frameshift variant)	RPGRIP1L-related disorder	GLikely pathogenic
Select item 3354025	NM_015272.5(RPGRIP1L):c.230+812G>A	RPGRIP1L (G117D)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3353948	NM_015272.5(RPGRIP1L):c.839A>G (p.Asn280Ser)	RPGRIP1L (N280S)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3353897	NM_015272.5(RPGRIP1L):c.3830T>C (p.Ile1277Thr)	RPGRIP1L (I1197T +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3353563	NM_015272.5(RPGRIP1L):c.394A>C (p.Arg132=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3353306	NM_015272.5(RPGRIP1L):c.2785A>G (p.Thr929Ala)	RPGRIP1L (T929A)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3353108	NM_015272.5(RPGRIP1L):c.1690A>G (p.Lys564Glu)	RPGRIP1L (K564E)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3352571	NM_015272.5(RPGRIP1L):c.230+685T>C	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3352172	NM_015272.5(RPGRIP1L):c.3254A>G (p.Asp1085Gly)	RPGRIP1L (D1051G +1 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3352014	NM_015272.5(RPGRIP1L):c.230+758C>T	RPGRIP1L (P99L)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3351925	NM_015272.5(RPGRIP1L):c.461A>C (p.Gln154Pro)	RPGRIP1L (Q154P)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3351686	NM_015272.5(RPGRIP1L):c.345G>C (p.Leu115=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3351665	NM_015272.5(RPGRIP1L):c.1355A>G (p.Asn452Ser)	RPGRIP1L (N452S)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3351478	NM_015272.5(RPGRIP1L):c.2665C>A (p.His889Asn)	RPGRIP1L (H889N)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3351416	NM_015272.5(RPGRIP1L):c.626G>A (p.Arg209Lys)	RPGRIP1L (R209K)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3350956	NM_015272.5(RPGRIP1L):c.2237A>G (p.Tyr746Cys)	RPGRIP1L (Y746C)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3350328	NM_015272.5(RPGRIP1L):c.1261G>T (p.Val421Phe)	RPGRIP1L (V421F)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349995	NM_015272.5(RPGRIP1L):c.1296G>T (p.Leu432=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3349984	NM_015272.5(RPGRIP1L):c.2396G>T (p.Cys799Phe)	RPGRIP1L (C799F)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349738	NM_015272.5(RPGRIP1L):c.1729A>C (p.Lys577Gln)	RPGRIP1L (K577Q)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349734	NM_015272.5(RPGRIP1L):c.151G>C (p.Glu51Gln)	RPGRIP1L (E51Q)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349583	NM_015272.5(RPGRIP1L):c.3805G>T (p.Gly1269Trp)	RPGRIP1L (G1189W +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349319	NM_015272.5(RPGRIP1L):c.2797G>C (p.Gly933Arg)	RPGRIP1L (G933R)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3349021	NM_015272.5(RPGRIP1L):c.2291A>G (p.Glu764Gly)	RPGRIP1L (E764G)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348948	NM_015272.5(RPGRIP1L):c.2594T>G (p.Val865Gly)	RPGRIP1L (V865G)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348843	NM_015272.5(RPGRIP1L):c.2622T>C (p.Asn874=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3348788	NM_015272.5(RPGRIP1L):c.2591A>T (p.Tyr864Phe)	RPGRIP1L (Y864F)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348729	NM_015272.5(RPGRIP1L):c.97A>C (p.Thr33Pro)	RPGRIP1L (T33P)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348651	NM_015272.5(RPGRIP1L):c.230+745C>G	RPGRIP1L (L95V)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348311	NM_015272.5(RPGRIP1L):c.2862C>G (p.Ser954Arg)	RPGRIP1L (S954R)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348278	NM_015272.5(RPGRIP1L):c.1654G>C (p.Val552Leu)	RPGRIP1L (V552L)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348133	NM_015272.5(RPGRIP1L):c.1483A>C (p.Met495Leu)	RPGRIP1L (M495L)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3348097	NM_015272.5(RPGRIP1L):c.230+768G>C	RPGRIP1L	Single nucleotide variant (synonymous variant +1 more)	RPGRIP1L-related disorder	GLikely benign
Select item 3347998	NM_015272.5(RPGRIP1L):c.1879A>G (p.Lys627Glu)	RPGRIP1L (K627E)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3347938	NM_015272.5(RPGRIP1L):c.1408_1410del (p.Lys470del)	RPGRIP1L (K470del)	Deletion (inframe_deletion)	RPGRIP1L-related disorder	GUncertain significance
Select item 3347753	NM_015272.5(RPGRIP1L):c.2683+4A>G	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3346393	NM_015272.5(RPGRIP1L):c.2264A>T (p.Tyr755Phe)	RPGRIP1L (Y755F)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3346279	NM_015272.5(RPGRIP1L):c.1037A>G (p.Asp346Gly)	RPGRIP1L (D346G)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3346252	NM_015272.5(RPGRIP1L):c.2354del (p.Thr785fs)	RPGRIP1L (T785fs)	Deletion (frameshift variant)	RPGRIP1L-related disorder	GLikely pathogenic
Select item 3345635	NM_015272.5(RPGRIP1L):c.1622A>C (p.Gln541Pro)	RPGRIP1L (Q541P)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3345546	NM_015272.5(RPGRIP1L):c.3635A>T (p.Glu1212Val)	RPGRIP1L (E1132V +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3345473	NM_015272.5(RPGRIP1L):c.785T>C (p.Ile262Thr)	RPGRIP1L (I262T)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3345472	NM_015272.5(RPGRIP1L):c.530-1G>A	RPGRIP1L	Single nucleotide variant (splice acceptor variant)	RPGRIP1L-related disorder	GLikely pathogenic
Select item 3345438	NM_015272.5(RPGRIP1L):c.3745G>A (p.Asp1249Asn)	RPGRIP1L (D1169N +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3345093	NM_015272.5(RPGRIP1L):c.3776A>C (p.His1259Pro)	RPGRIP1L (H1179P +3 more)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3344622	NM_015272.5(RPGRIP1L):c.688G>A (p.Glu230Lys)	RPGRIP1L (E230K)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3344126	NM_015272.5(RPGRIP1L):c.928G>A (p.Gly310Arg)	RPGRIP1L (G310R)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3342859	NM_015272.5(RPGRIP1L):c.1694_1695del (p.Leu565fs)	RPGRIP1L (L565fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3339999	NM_015272.5(RPGRIP1L):c.697A>C (p.Lys233Gln)	RPGRIP1L (K233Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315158	NM_015272.5(RPGRIP1L):c.2093T>C (p.Leu698Ser)	RPGRIP1L (L698S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315156	NM_015272.5(RPGRIP1L):c.2513T>C (p.Phe838Ser)	RPGRIP1L (F838S)	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 3243373	NC_000016.9:g.(?_53672254)_(53676298_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 3243372	NC_000016.9:g.(?_53720325)_(53721897_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3243370	NC_000016.9:g.(?_53674925)_(53734635_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3243369	NC_000016.9:g.(?_53698762)_(53698941_?)del	RPGRIP1L	Deletion	Meckel-Gruber syndrome +1 more	GPathogenic
Select item 3155993	NM_015272.5(RPGRIP1L):c.2991A>T (p.Glu997Asp)	RPGRIP1L (E997D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155992	NM_015272.5(RPGRIP1L):c.2662G>A (p.Ala888Thr)	RPGRIP1L (A888T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155990	NM_015272.5(RPGRIP1L):c.197A>G (p.Gln66Arg)	RPGRIP1L (Q66R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155989	NM_015272.5(RPGRIP1L):c.1789A>C (p.Thr597Pro)	RPGRIP1L (T597P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066340	NM_015272.5(RPGRIP1L):c.2045T>G (p.Val682Gly)	RPGRIP1L (V682G)	Single nucleotide variant (missense variant)	Meckel syndrome, type 5	GUncertain significance
Select item 3065725	NM_015272.5(RPGRIP1L):c.3396del (p.Gln1132_Val1133insTer)	RPGRIP1L	Deletion (frameshift variant +1 more)	Joubert syndrome 7	GLikely benign
Select item 3054503	NM_015272.5(RPGRIP1L):c.230+835C>T	RPGRIP1L (L125F)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3050548	NM_015272.5(RPGRIP1L):c.1840G>A (p.Val614Ile)	RPGRIP1L (V614I)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3044361	NM_015272.5(RPGRIP1L):c.2153-8A>G	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3041828	NM_015272.5(RPGRIP1L):c.230+820T>C	RPGRIP1L (C120R)	Single nucleotide variant (missense variant +1 more)	RPGRIP1L-related disorder	GUncertain significance
Select item 3040186	NM_015272.5(RPGRIP1L):c.2153-21G>C	RPGRIP1L	Single nucleotide variant (intron variant)	RPGRIP1L-related disorder	GLikely benign
Select item 3031868	NM_015272.5(RPGRIP1L):c.17A>T (p.Asp6Val)	RPGRIP1L (D6V)	Single nucleotide variant (missense variant)	RPGRIP1L-related disorder	GUncertain significance
Select item 3031489	NM_015272.5(RPGRIP1L):c.230+702A>G	RPGRIP1L	Single nucleotide variant (synonymous variant +1 more)	RPGRIP1L-related disorder	GLikely benign
Select item 3029984	NM_015272.5(RPGRIP1L):c.674T>G (p.Leu225Ter)	RPGRIP1L (L225*)	Single nucleotide variant (nonsense)	RPGRIP1L-related disorder	GLikely pathogenic
Select item 3027191	NM_015272.5(RPGRIP1L):c.1542C>T (p.Asn514=)	RPGRIP1L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954475	NM_015272.5(RPGRIP1L):c.1581+1G>A	RPGRIP1L	Single nucleotide variant (splice donor variant)	Meckel-Gruber syndrome +1 more	GLikely pathogenic
Select item 2954284	NM_015272.5(RPGRIP1L):c.3294+11T>C	RPGRIP1L	Single nucleotide variant (intron variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 2954276	NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)	RPGRIP1L (G220fs)	Deletion (frameshift variant)	Meckel-Gruber syndrome +1 more	GPathogenic

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