"Revvity Omics, Revvity"[submitter] AND "RPL36A-HNRNPH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432132	NM_001199973.2(RPL36A-HNRNPH2):c.300+2345_300+2356del	RPL36A-HNRNPH2, GLA	Deletion (intron variant)	not provided	GUncertain significance
Select item 10772	NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)	GLA, RPL36A-HNRNPH2 (K426fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 246044	NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	GLA, RPL36A-HNRNPH2 (N419D)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 92540	NM_000169.3(GLA):c.1247A>C (p.Gln416Pro)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 198402	NM_000169.3(GLA):c.1235_1236del (p.Thr412fs)	GLA, RPL36A-HNRNPH2 (T412fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 1071124	NM_000169.3(GLA):c.1235C>T (p.Thr412Ile)	GLA, RPL36A-HNRNPH2 (T412I)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 10757	NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del)	GLA, RPL36A-HNRNPH2 (R404del)	Microsatellite (inframe_deletion +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2690609	NM_000169.3(GLA):c.1202C>G (p.Ser401Ter)	GLA, RPL36A-HNRNPH2 (S401* +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely pathogenic
Select item 245806	NM_000169.3(GLA):c.1188del (p.Tyr397fs)	RPL36A-HNRNPH2, GLA (Y397fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 405511	NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	GLA, RPL36A-HNRNPH2 (G395A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 281678	NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	GLA, RPL36A-HNRNPH2 (L394P)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2440474	NM_000169.3(GLA):c.1166C>T (p.Pro389Leu)	GLA, RPL36A-HNRNPH2 (P389L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 928957	NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys)	GLA, RPL36A-HNRNPH2 (G373C)	Indel (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 177834	NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)	GLA, RPL36A-HNRNPH2 (G373S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10767	NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter)	GLA, RPL36A-HNRNPH2 (Y365*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 222141	NM_000169.3(GLA):c.1088G>A (p.Arg363His)	GLA, RPL36A-HNRNPH2 (R363H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198401	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA, RPL36A-HNRNPH2 (R363C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 180832	NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	GLA, RPL36A-HNRNPH2 (P362L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 222139	NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)	GLA, RPL36A-HNRNPH2 (G360R)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 598175	NM_000169.3(GLA):c.1077del (p.Ile359fs)	GLA, RPL36A-HNRNPH2 (I359fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 180844	NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	GLA, RPL36A-HNRNPH2 (E358del)	Deletion (inframe_deletion +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1324474	NM_000169.3(GLA):c.1068dup (p.Gln357fs)	GLA, RPL36A-HNRNPH2 (Q357fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 222135	NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	GLA, RPL36A-HNRNPH2 (R356Q)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 10713	NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	GLA, RPL36A-HNRNPH2 (R356W)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 217410	NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	RPL36A-HNRNPH2, GLA (A352G)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 992222	NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)	GLA, RPL36A-HNRNPH2 (W349*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1323006	NM_000169.3(GLA):c.1042dup (p.Ala348fs)	GLA, RPL36A-HNRNPH2 (A348fs)	Duplication (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 92538	NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)	RPL36A-HNRNPH2, GLA (S345fs)	Microsatellite (frameshift variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1324471	NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)	GLA, RPL36A-HNRNPH2 (P343L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10742	NM_000169.3(GLA):c.1025G>A (p.Arg342Gln)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 10743	NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	GLA, RPL36A-HNRNPH2 (R342*)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 222111	NM_000169.3(GLA):c.1000-1G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease +1 more	GPathogenic
Select item 286849	NM_000169.3(GLA):c.999+2T>C	GLA, RPL36A-HNRNPH2 (V334A)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1323005	NM_000169.3(GLA):c.997C>T (p.Gln333Ter)	GLA, RPL36A-HNRNPH2 (Q333*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 373666	NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	GLA, RPL36A-HNRNPH2 (R332E)	Indel (missense variant +2 more)	Fabry disease +3 more	GUncertain significance
Select item 2689582	NM_000169.3(GLA):c.984del (p.Tyr329fs)	GLA, RPL36A-HNRNPH2 (Y329fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1324469	NM_000169.3(GLA):c.983G>T (p.Gly328Val)	GLA, RPL36A-HNRNPH2 (G328V)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 198053	NM_000169.3(GLA):c.982G>C (p.Gly328Arg)	RPL36A-HNRNPH2, GLA (G328R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92574	NM_000169.3(GLA):c.974G>A (p.Gly325Asp)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1050825	NM_000169.3(GLA):c.969del (p.Leu324fs)	GLA, RPL36A-HNRNPH2 (L324fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity; other
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	GLA, RPL36A-HNRNPH2 (R301Q)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 179546	NM_000169.3(GLA):c.901C>G (p.Arg301Gly)	GLA, RPL36A-HNRNPH2 (R301G)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 92570	NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	GLA, RPL36A-HNRNPH2 (R301*)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 1324465	NM_000169.3(GLA):c.898C>T (p.Leu300Phe)	GLA, RPL36A-HNRNPH2 (L300F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 10717	NM_000169.3(GLA):c.886A>G (p.Met296Val)	GLA, RPL36A-HNRNPH2 (M296V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2440481	NM_000169.3(GLA):c.877C>T (p.Pro293Ser)	GLA, RPL36A-HNRNPH2 (P293S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 222436	NM_000169.3(GLA):c.870G>C (p.Met290Ile)	GLA, RPL36A-HNRNPH2 (M290I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 222435	NM_000169.3(GLA):c.870G>A (p.Met290Ile)	GLA, RPL36A-HNRNPH2 (M290I)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1374130	NM_000169.3(GLA):c.868A>G (p.Met290Val)	GLA, RPL36A-HNRNPH2 (M290V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 222434	NM_000169.3(GLA):c.868A>C (p.Met290Leu)	GLA, RPL36A-HNRNPH2 (M290L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92568	NM_000169.3(GLA):c.865A>T (p.Ile289Phe)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 2432128	NM_000169.3(GLA):c.851T>A (p.Met284Lys)	GLA, RPL36A-HNRNPH2 (M284K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 180843	NM_000169.3(GLA):c.847C>T (p.Gln283Ter)	GLA, RPL36A-HNRNPH2 (Q283*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 500793	NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla)	GLA, RPL36A-HNRNPH2	Deletion (inframe_indel +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 10721	NM_000169.3(GLA):c.835C>G (p.Gln279Glu)	GLA, RPL36A-HNRNPH2 (Q279E)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 524211	NM_000169.3(GLA):c.831G>C (p.Trp277Cys)	GLA, RPL36A-HNRNPH2 (W277C)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 1059459	NM_000169.3(GLA):c.820G>C (p.Gly274Arg)	GLA, RPL36A-HNRNPH2 (G274R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594189	NM_000169.3(GLA):c.808A>T (p.Ile270Phe)	GLA, RPL36A-HNRNPH2 (I270F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1323012	NM_000169.3(GLA):c.803_806delTAGT (p.Met267_Leu268insTer)	GLA, RPL36A-HNRNPH2	Deletion (nonsense +3 more)	not provided	GPathogenic
Select item 281865	NM_000169.3(GLA):c.806T>A (p.Val269Glu)	GLA, RPL36A-HNRNPH2 (V269E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 222421	NM_000169.3(GLA):c.805G>A (p.Val269Met)	GLA, RPL36A-HNRNPH2 (V269M)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 2440492	NM_000169.3(GLA):c.793C>T (p.Pro265Ser)	GLA, RPL36A-HNRNPH2 (P265S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 222393	NM_000169.3(GLA):c.790G>T (p.Asp264Tyr)	GLA, RPL36A-HNRNPH2 (D264Y)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 1323001	NM_000169.3(GLA):c.788A>G (p.Asn263Ser)	GLA, RPL36A-HNRNPH2 (N263S)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 596584	NM_000169.3(GLA):c.777del (p.Gly261fs)	GLA, RPL36A-HNRNPH2 (G261fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 180021	NM_000169.3(GLA):c.758T>C (p.Ile253Thr)	GLA, RPL36A-HNRNPH2 (I253T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 929199	NM_000169.3(GLA):c.751G>T (p.Glu251Ter)	GLA, RPL36A-HNRNPH2 (E251*)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 92566	NM_000169.3(GLA):c.748C>T (p.Gln250Ter)	GLA, RPL36A-HNRNPH2 (Q250*)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 180841	NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	GLA, RPL36A-HNRNPH2 (S238N)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 245967	NM_000169.3(GLA):c.707G>A (p.Trp236Ter)	GLA, RPL36A-HNRNPH2 (W236*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 659973	NM_000169.3(GLA):c.695T>C (p.Ile232Thr)	GLA, RPL36A-HNRNPH2 (I232T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 197640	NM_000169.3(GLA):c.695T>G (p.Ile232Ser)	GLA, RPL36A-HNRNPH2 (I232S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2432133	NM_000169.3(GLA):c.694A>G (p.Ile232Val)	GLA, RPL36A-HNRNPH2 (I232V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2432136	NM_000169.3(GLA):c.682A>C (p.Asn228His)	GLA, RPL36A-HNRNPH2 (N228H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 10732	NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 10733	NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	GLA, RPL36A-HNRNPH2 (R227*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 92563	NM_000169.3(GLA):c.677G>A (p.Trp226Ter)	GLA, RPL36A-HNRNPH2 (W226*)	Single nucleotide variant (nonsense +2 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1324473	NM_000169.3(GLA):c.674A>G (p.His225Arg)	GLA, RPL36A-HNRNPH2 (H225R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1324464	NM_000169.3(GLA):c.671A>C (p.Asn224Thr)	GLA, RPL36A-HNRNPH2 (N224T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 222365	NM_000169.3(GLA):c.671A>G (p.Asn224Ser)	GLA, RPL36A-HNRNPH2 (N224S)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 222364	NM_000169.3(GLA):c.668G>A (p.Cys223Tyr)	GLA, RPL36A-HNRNPH2 (C223Y)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GPathogenic
Select item 597544	NM_000169.3(GLA):c.640-1G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	Fabry disease +1 more	GPathogenic
Select item 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 288308	NM_000169.3(GLA):c.614C>T (p.Pro205Leu)	GLA, RPL36A-HNRNPH2 (P205L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 42456	NM_000169.3(GLA):c.613C>A (p.Pro205Thr)	GLA, RPL36A-HNRNPH2 (P205T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GPathogenic/Likely pathogenic
Select item 2690611	NM_000169.3(GLA):c.602C>T (p.Ser201Phe)	GLA, RPL36A-HNRNPH2 (S201F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 167142	NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2690610	NM_000169.3(GLA):c.581C>T (p.Thr194Ile)	GLA, RPL36A-HNRNPH2 (T194I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2436570	NM_000169.3(GLA):c.568del (p.Ala190fs)	GLA, RPL36A-HNRNPH2 (A190fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 1324466	NM_000169.3(GLA):c.559A>G (p.Met187Val)	GLA, RPL36A-HNRNPH2 (M187V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1324472	NM_000169.3(GLA):c.548delG (p.Gly183fs)	GLA, RPL36A-HNRNPH2 (G183fs)	Deletion (frameshift variant +3 more)	not provided	GLikely pathogenic
Select item 562419	NM_000169.3(GLA):c.548G>A (p.Gly183Asp)	GLA, RPL36A-HNRNPH2 (G183D)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GLikely pathogenic
Select item 92555	NM_000169.3(GLA):c.548G>T (p.Gly183Val)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 92554	NM_000169.3(GLA):c.548-2A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 499259	NM_000169.3(GLA):c.547+397G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 573833	NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1323002	NM_000169.3(GLA):c.515G>A (p.Cys172Tyr)	GLA, RPL36A-HNRNPH2 (C172Y)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic

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