c.4081C > T - ClinVar - NCBI

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The following term was not found in ClinVar: c.4081C.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205582	NM_001005484.2(OR4F5):c.704T>C (p.Ile235Thr)	OR4F5 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	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 2069387	NM_001385641.1(SAMD11):c.557A>T (p.Gln186Leu)	SAMD11 (Q186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1936488	NM_001385641.1(SAMD11):c.576C>T (p.Cys192=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2957935	NM_001385641.1(SAMD11):c.609+13G>T	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 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 1923853	NM_001385641.1(SAMD11):c.619C>T (p.Arg207Trp)	SAMD11 (R207W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2012623	NM_001385641.1(SAMD11):c.656C>T (p.Ala219Val)	SAMD11 (A219V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1653547	NM_001385641.1(SAMD11):c.664C>T (p.Leu222=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133131	NM_001385641.1(SAMD11):c.676C>T (p.Arg226Ter)	SAMD11 (R47* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2081213	NM_001385641.1(SAMD11):c.681T>G (p.Thr227=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876353	NM_001385641.1(SAMD11):c.690C>T (p.Phe230=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	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 2998369	NM_001385641.1(SAMD11):c.711C>T (p.Ser237=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	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 1919925	NM_001385641.1(SAMD11):c.720T>C (p.Ser240=)	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 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 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 1170010	NM_001385641.1(SAMD11):c.769C>T (p.His257Tyr)	SAMD11 (H257Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 3157634	NM_001385641.1(SAMD11):c.779T>C (p.Ile260Thr)	SAMD11 (I260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1168187	NM_001385641.1(SAMD11):c.780C>T (p.Ile260=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3157635	NM_001385641.1(SAMD11):c.782T>C (p.Met261Thr)	SAMD11 (M261T +1 more)	Single nucleotide variant (missense variant)	not specified	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 1547770	NM_001385641.1(SAMD11):c.792-17T>C	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 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)	not provided	GBenign
Select item 2047272	NM_001385641.1(SAMD11):c.796C>T (p.His266Tyr)	SAMD11 (H266Y +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 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 1609095	NM_001385641.1(SAMD11):c.819C>T (p.Ile273=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906908	NM_001385641.1(SAMD11):c.826C>T (p.Arg276Ter)	SAMD11 (R97* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2033633	NM_001385641.1(SAMD11):c.842+7G>T	SAMD11	Single nucleotide variant (intron 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 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 1635319	NM_001385641.1(SAMD11):c.843-16C>T	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 2125016	NM_001385641.1(SAMD11):c.843-7T>C	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 1150763	NM_001385641.1(SAMD11):c.849C>T (p.Asp283=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3316075	NM_001385641.1(SAMD11):c.856C>T (p.Leu286Phe)	SAMD11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 1169805	NM_001385641.1(SAMD11):c.867C>T (p.Leu289=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1595399	NM_001385641.1(SAMD11):c.882C>T (p.His294=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149133	NM_001385641.1(SAMD11):c.883C>T (p.Arg295Cys)	SAMD11 (R116C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1008984	NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu)	SAMD11 (R118L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1622526	NM_001385641.1(SAMD11):c.894C>T (p.His298=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1140111	NM_001385641.1(SAMD11):c.897C>T (p.Leu299=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462622	NM_001385641.1(SAMD11):c.903G>T (p.Met301Ile)	SAMD11 (M301I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169806	NM_001385641.1(SAMD11):c.906C>T (p.Pro302=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1436058	NM_001385641.1(SAMD11):c.913C>T (p.Gln305Ter)	SAMD11 (Q126* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1909476	NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys)	SAMD11 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1093933	NM_001385641.1(SAMD11):c.921C>T (p.Arg307=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059598	NM_001385641.1(SAMD11):c.922T>C (p.Cys308Arg)	SAMD11 (C129R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076576	NM_001385641.1(SAMD11):c.924T>G (p.Cys308Trp)	SAMD11 (C308W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427585	NM_001385641.1(SAMD11):c.929T>G (p.Phe310Cys)	SAMD11 (F131C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169668	NM_001385641.1(SAMD11):c.930C>T (p.Phe310=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1974746	NM_001385641.1(SAMD11):c.934A>T (p.Arg312Ter)	SAMD11 (R133* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1929801	NM_001385641.1(SAMD11):c.941G>T (p.Ser314Ile)	SAMD11 (S135I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144475	NM_001385641.1(SAMD11):c.943C>T (p.Leu315=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980873	NM_001385641.1(SAMD11):c.951T>C (p.Ile317=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1476759	NM_001385641.1(SAMD11):c.962C>T (p.Pro321Leu)	SAMD11 (P321L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642660	NM_001385641.1(SAMD11):c.967+11C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981547	NM_001385641.1(SAMD11):c.967+17G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994226	NM_001385641.1(SAMD11):c.968-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1100007	NM_001385641.1(SAMD11):c.968-10C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166157	NM_001385641.1(SAMD11):c.968-5C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GBenign

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