"clinvar_snp"[Filter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1019397	NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu)	SAMD11 (G183E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543320	NM_001385641.1(SAMD11):c.552C>T (p.Ile184=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648427	NM_001385641.1(SAMD11):c.565C>T (p.Pro189Ser)	SAMD11 (P10S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1362713	NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr)	SAMD11 (I191T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1568423	NM_001385641.1(SAMD11):c.582C>T (p.Cys194=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365270	NM_001385641.1(SAMD11):c.599C>T (p.Ser200Phe)	SAMD11 (S21F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1632958	NM_001385641.1(SAMD11):c.606G>T (p.Pro202=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377425	NM_001385641.1(SAMD11):c.609+1G>A	SAMD11	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1555362	NM_001385641.1(SAMD11):c.609+12G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561208	NM_001385641.1(SAMD11):c.609+14C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624593	NM_001385641.1(SAMD11):c.609+16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1541757	NM_001385641.1(SAMD11):c.610-19T>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658573	NM_001385641.1(SAMD11):c.610-13_610-11del	SAMD11	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1125147	NM_001385641.1(SAMD11):c.610-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1502618	NM_001385641.1(SAMD11):c.613C>T (p.Arg205Trp)	SAMD11 (R26W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547384	NM_001385641.1(SAMD11):c.618G>A (p.Gly206=)	SAMD11	Single nucleotide variant (synonymous variant)	SAMD11-related disorder +1 more	GLikely benign
Select item 1164676	NM_001385641.1(SAMD11):c.620G>A (p.Arg207Gln)	SAMD11 (R207Q +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder +1 more	GBenign
Select item 1365924	NM_001385641.1(SAMD11):c.641T>C (p.Val214Ala)	SAMD11 (V35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144630	NM_001385641.1(SAMD11):c.642C>T (p.Val214=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 846933	NM_001385641.1(SAMD11):c.643G>A (p.Ala215Thr)	SAMD11 (A36T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478180	NM_001385641.1(SAMD11):c.644C>T (p.Ala215Val)	SAMD11 (A36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380424	NM_001385641.1(SAMD11):c.650C>G (p.Pro217Arg)	SAMD11 (P217R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354167	NM_001385641.1(SAMD11):c.650C>T (p.Pro217Leu)	SAMD11 (P38L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095790	NM_001385641.1(SAMD11):c.654C>T (p.Ala218=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043045	NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr)	SAMD11 (A219T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 972363	NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp)	SAMD11 (R41W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1170208	NM_001385641.1(SAMD11):c.659G>A (p.Arg220Gln)	SAMD11 (R220Q +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder +1 more	GBenign
Select item 1653547	NM_001385641.1(SAMD11):c.664C>T (p.Leu222=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409578	NM_001385641.1(SAMD11):c.670A>G (p.Lys224Glu)	SAMD11 (K224E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523336	NM_001385641.1(SAMD11):c.673G>A (p.Glu225Lys)	SAMD11 (E225K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667751	NM_001385641.1(SAMD11):c.675G>A (p.Glu225=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 998906	NM_001385641.1(SAMD11):c.677_682delinsTTCTTCTG (p.Arg226fs)	SAMD11 (R226fs +1 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1497763	NM_001385641.1(SAMD11):c.698G>A (p.Ser233Asn)	SAMD11 (S233N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131472	NM_001385641.1(SAMD11):c.700G>A (p.Asp234Asn)	SAMD11 (D234N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1145077	NM_001385641.1(SAMD11):c.702T>C (p.Asp234=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789256	NM_001385641.1(SAMD11):c.703G>A (p.Gly235Ser)	SAMD11 (G56S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1652015	NM_001385641.1(SAMD11):c.714C>T (p.Asp238=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499045	NM_001385641.1(SAMD11):c.715G>A (p.Gly239Arg)	SAMD11 (G239R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473769	NM_001385641.1(SAMD11):c.716G>C (p.Gly239Ala)	SAMD11 (G239A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534041	NM_001385641.1(SAMD11):c.717G>A (p.Gly239=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368373	NM_001385641.1(SAMD11):c.720T>G (p.Ser240Arg)	SAMD11 (S61R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672121	NM_001385641.1(SAMD11):c.729C>T (p.Thr243=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969662	NM_001385641.1(SAMD11):c.730T>G (p.Cys244Gly)	SAMD11 (C65G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476127	NM_001385641.1(SAMD11):c.736C>T (p.Arg246Trp)	SAMD11 (R67W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140293	NM_001385641.1(SAMD11):c.737G>A (p.Arg246Gln)	SAMD11 (R246Q +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder +1 more	GLikely benign
Select item 1435698	NM_001385641.1(SAMD11):c.739C>T (p.Arg247Trp)	SAMD11 (R247W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165489	NM_001385641.1(SAMD11):c.740G>A (p.Arg247Gln)	SAMD11 (R247Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1646781	NM_001385641.1(SAMD11):c.747C>G (p.Gly249=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1505398	NM_001385641.1(SAMD11):c.767C>G (p.Pro256Arg)	SAMD11 (P77R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484446	NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu)	SAMD11 (P77L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1671776	NM_001385641.1(SAMD11):c.768G>A (p.Pro256=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1170010	NM_001385641.1(SAMD11):c.769C>T (p.His257Tyr)	SAMD11 (H257Y +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder +1 more	GBenign
Select item 1547483	NM_001385641.1(SAMD11):c.771C>T (p.His257=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1002057	NM_001385641.1(SAMD11):c.772A>G (p.Ile258Val)	SAMD11 (I258V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1359546	NM_001385641.1(SAMD11):c.775C>G (p.Arg259Gly)	SAMD11 (R259G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1099322	NM_001385641.1(SAMD11):c.775C>T (p.Arg259Cys)	SAMD11 (R259C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1478458	NM_001385641.1(SAMD11):c.776G>T (p.Arg259Leu)	SAMD11 (R259L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002043	NM_001385641.1(SAMD11):c.776G>A (p.Arg259His)	SAMD11 (R259H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367641	NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val)	SAMD11 (I260V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168187	NM_001385641.1(SAMD11):c.780C>T (p.Ile260=)	SAMD11	Single nucleotide variant (synonymous variant)	SAMD11-related disorder +1 more	GBenign
Select item 1445934	NM_001385641.1(SAMD11):c.785A>C (p.Lys262Thr)	SAMD11 (K262T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 843786	NM_001385641.1(SAMD11):c.791G>A (p.Arg264Lys)	SAMD11 (R85K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1107141	NM_001385641.1(SAMD11):c.791+7G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1130596	NM_001385641.1(SAMD11):c.791+10C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528916	NM_001385641.1(SAMD11):c.791+11C>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547770	NM_001385641.1(SAMD11):c.792-17T>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572300	NM_001385641.1(SAMD11):c.792-16G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1124503	NM_001385641.1(SAMD11):c.792-15C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641712	NM_001385641.1(SAMD11):c.792-14T>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643940	NM_001385641.1(SAMD11):c.792-10C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 956114	NM_001385641.1(SAMD11):c.792A>G (p.Arg264=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1491011	NM_001385641.1(SAMD11):c.794T>C (p.Val265Ala)	SAMD11 (V86A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1354897	NM_001385641.1(SAMD11):c.794T>A (p.Val265Asp)	SAMD11 (V86D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170044	NM_001385641.1(SAMD11):c.795C>T (p.Val265=)	SAMD11	Single nucleotide variant (synonymous variant)	SAMD11-related disorder +1 more	GBenign
Select item 1385724	NM_001385641.1(SAMD11):c.797A>G (p.His266Arg)	SAMD11 (H87R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 852351	NM_001385641.1(SAMD11):c.803A>G (p.His268Arg)	SAMD11 (H89R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1097908	NM_001385641.1(SAMD11):c.804C>T (p.His268=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1373479	NM_001385641.1(SAMD11):c.810C>T (p.Asp270=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1080861	NM_001385641.1(SAMD11):c.811G>A (p.Val271Met)	SAMD11 (V271M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1609095	NM_001385641.1(SAMD11):c.819C>T (p.Ile273=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047625	NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln)	SAMD11 (R97Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1491610	NM_001385641.1(SAMD11):c.831G>A (p.Glu277=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1158985	NM_001385641.1(SAMD11):c.834G>A (p.Ala278=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161277	NM_001385641.1(SAMD11):c.842+9C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1554555	NM_001385641.1(SAMD11):c.842+10G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667671	NM_001385641.1(SAMD11):c.842+13C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622906	NM_001385641.1(SAMD11):c.842+18C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646784	NM_001385641.1(SAMD11):c.842+19G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635319	NM_001385641.1(SAMD11):c.843-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659403	NM_001385641.1(SAMD11):c.843-15G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1158587	NM_001385641.1(SAMD11):c.843-9G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1127328	NM_001385641.1(SAMD11):c.843-9G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169977	NM_001385641.1(SAMD11):c.843-6C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1161254	NM_001385641.1(SAMD11):c.846G>A (p.Gln282=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150763	NM_001385641.1(SAMD11):c.849C>T (p.Asp283=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167937	NM_001385641.1(SAMD11):c.850G>A (p.Gly284Ser)	SAMD11 (G105S +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder +1 more	GBenign/Likely benign
Select item 1297123	NM_001385641.1(SAMD11):c.859C>T (p.Pro287Ser)	SAMD11 (P108S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 1484814	NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser)	SAMD11 (T109S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1111030	NM_001385641.1(SAMD11):c.864C>T (p.Thr288=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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