ClinVar for MedGen (Select 155629) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433153	NM_005506.4(SCARB2):c.1114-2A>G	SCARB2	Single nucleotide variant (splice acceptor variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 2080764	NM_005506.4(SCARB2):c.276-7_276-5del	SCARB2	Deletion (intron variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1700686	NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)	RTEL1-TNFRSF6B, RTEL1 (D231Y +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1700685	NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)	KCNH8 (Y100H)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1608997	NM_005506.4(SCARB2):c.276-17C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1594476	NM_005506.4(SCARB2):c.117+19T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +1 more	GLikely benign
Select item 1536329	NM_005506.4(SCARB2):c.522C>T (p.Asp174=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Action myoclonus-renal failure syndrome +1 more	GLikely benign
Select item 1451782	NM_005506.4(SCARB2):c.235del (p.Glu79fs)	SCARB2 (E79fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy +1 more	GPathogenic/Likely pathogenic
Select item 1449959	NM_005506.4(SCARB2):c.1249A>G (p.Ile417Val)	SCARB2 (I274V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1323553	NM_005506.4(SCARB2):c.1240_1241delAG (p.Ser414fs)	SCARB2 (S271fs +1 more)	Deletion (frameshift variant +1 more)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 1267324	NM_005506.4(SCARB2):c.424-43T>C	SCARB2	Single nucleotide variant (intron variant)	Action myoclonus-renal failure syndrome +1 more	GBenign
Select item 1179028	NM_005506.4(SCARB2):c.994+2T>C	SCARB2	Single nucleotide variant (splice donor variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 1062169	NM_005506.4(SCARB2):c.24G>A (p.Thr8=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 1057189	NM_005506.4(SCARB2):c.866G>A (p.Gly289Glu)	SCARB2 (G146E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1053433	NM_005506.4(SCARB2):c.1416A>C (p.Arg472Ser)	SCARB2 (R329S +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1041387	NM_005506.4(SCARB2):c.65C>T (p.Thr22Met)	SCARB2 (T22M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1019841	NM_005506.4(SCARB2):c.766T>C (p.Phe256Leu)	SCARB2 (F113L +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 1016299	NM_005506.4(SCARB2):c.816C>G (p.Asp272Glu)	SCARB2 (D129E +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 1003116	NM_005506.4(SCARB2):c.1369G>C (p.Ala457Pro)	SCARB2 (A314P +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 993025	NM_005506.4(SCARB2):c.108dup (p.Ile37fs)	SCARB2 (I37fs)	Duplication (frameshift variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 971806	NM_005506.4(SCARB2):c.956del (p.Leu319fs)	SCARB2 (L176fs +1 more)	Deletion (frameshift variant)	Action myoclonus-renal failure syndrome +1 more	GPathogenic
Select item 969773	NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)	SCARB2 (E347K +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 963097	NM_005506.4(SCARB2):c.593A>G (p.Tyr198Cys)	SCARB2 (Y198C)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 950433	NM_005506.4(SCARB2):c.709C>G (p.Leu237Val)	SCARB2 (L94V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +3 more	GUncertain significance
Select item 943859	NM_005506.4(SCARB2):c.1331C>T (p.Ala444Val)	SCARB2 (A301V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 807488	NM_005506.4(SCARB2):c.134del (p.Asn45fs)	SCARB2 (N45fs)	Deletion (frameshift variant)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 702543	NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 665661	NM_005506.4(SCARB2):c.117G>A (p.Lys39=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 657220	NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)	SCARB2 (M404V +1 more)	Single nucleotide variant (missense variant)	SCARB2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 591897	NM_005506.4(SCARB2):c.170C>T (p.Pro57Leu)	SCARB2 (P57L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 590041	NM_005506.4(SCARB2):c.38C>T (p.Ser13Phe)	SCARB2 (S13F)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 588761	NM_005506.4(SCARB2):c.914C>T (p.Thr305Met)	SCARB2 (T305M +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +2 more	GUncertain significance
Select item 582195	NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)	SCARB2 (E471V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 531810	NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe)	SCARB2 (L94F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 516610	NM_005506.4(SCARB2):c.93G>A (p.Lys31=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 516443	NM_005506.4(SCARB2):c.1187+18C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 515840	NM_005506.4(SCARB2):c.824+20G>A	SCARB2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 462926	NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)	SCARB2 (D194N)	Single nucleotide variant (missense variant +1 more)	Action myoclonus-renal failure syndrome +2 more	GConflicting classifications of pathogenicity
Select item 462924	NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)	SCARB2 (P128S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 462923	NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp)	SCARB2 (R82W)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 462922	NM_005506.4(SCARB2):c.228C>T (p.Leu76=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 453288	NM_005506.4(SCARB2):c.367dup (p.Gln123fs)	SCARB2 (Q123fs)	Duplication (frameshift variant +1 more)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 449847	NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr)	SCARB2 (D127Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 449287	NM_005506.4(SCARB2):c.430A>T (p.Ile144Leu)	SCARB2 (I144L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 420391	NM_005506.4(SCARB2):c.1325T>C (p.Ile442Thr)	SCARB2 (I442T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 418468	NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn)	SCARB2 (D307N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 406875	NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser)	SCARB2 (Y284S +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +4 more	GConflicting classifications of pathogenicity
Select item 389506	NM_005506.4(SCARB2):c.1089T>C (p.His363=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 385901	NM_005506.4(SCARB2):c.424-5C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +4 more	GConflicting classifications of pathogenicity
Select item 378504	NM_005506.4(SCARB2):c.567T>C (p.His189=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 378502	NM_005506.4(SCARB2):c.276-7C>G	SCARB2	Single nucleotide variant (intron variant)	SCARB2-related condition +3 more	GLikely benign
Select item 378501	NM_005506.4(SCARB2):c.275+20T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 268148	NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)	SCARB2 (E471G +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268147	NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)	SCARB2 (G462fs +1 more)	Indel (frameshift variant)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268146	NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)	SCARB2 (R424* +1 more)	Single nucleotide variant (nonsense)	Action myoclonus-renal failure syndrome +2 more	GPathogenic
Select item 268143	NM_005506.4(SCARB2):c.1087C>A (p.His363Asn)	SCARB2 (H363N +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268142	NM_005506.4(SCARB2):c.1016dup (p.His341fs)	SCARB2 (H198fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 268141	NM_005506.4(SCARB2):c.704+5G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 268140	NM_005506.4(SCARB2):c.704+1G>C	SCARB2	Single nucleotide variant (intron variant +1 more)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268139	NM_005506.4(SCARB2):c.704+1G>A	SCARB2	Single nucleotide variant (intron variant +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 268138	NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)	SCARB2	Deletion (nonsense +1 more)	Progressive myoclonic epilepsy	GPathogenic
Select item 268137	NM_005506.4(SCARB2):c.424-2A>C	SCARB2	Single nucleotide variant (intron variant +1 more)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268136	NM_005506.4(SCARB2):c.296del (p.Asn99fs)	SCARB2 (N99fs)	Deletion (frameshift variant +1 more)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 268135	NM_005506.4(SCARB2):c.111del (p.Ile37fs)	SCARB2 (I37fs)	Deletion (frameshift variant)	Action myoclonus-renal failure syndrome	Gnot provided
Select item 259782	NM_005506.4(SCARB2):c.33G>T (p.Thr11=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +3 more	GBenign/Likely benign
Select item 259781	NM_005506.4(SCARB2):c.171T>C (p.Pro57=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 235353	NM_005506.4(SCARB2):c.241C>T (p.Pro81Ser)	SCARB2 (P81S)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +1 more	GUncertain significance
Select item 206724	NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys)	SCARB2 (E93K)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 206717	NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr)	SCARB2 (M443T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 206716	NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)	SCARB2 (T421M +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 206715	NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr)	SCARB2 (M337T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 206712	NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser)	SCARB2 (N249S +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 206710	NM_005506.4(SCARB2):c.523G>A (p.Glu175Lys)	SCARB2 (E175K)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 206709	NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)	SCARB2 (R121*)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy +2 more	GPathogenic/Likely pathogenic
Select item 206708	NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys)	SCARB2 (Y65C)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +2 more	GUncertain significance
Select item 206705	NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln)	SCARB2 (R424Q +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 206703	NM_005506.4(SCARB2):c.704+16T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +2 more	GBenign/Likely benign
Select item 206702	NM_005506.4(SCARB2):c.475A>G (p.Met159Val)	SCARB2 (M159V)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +4 more	GBenign
Select item 206701	NM_005506.4(SCARB2):c.445G>A (p.Val149Met)	SCARB2 (V149M)	Single nucleotide variant (missense variant +1 more)	Action myoclonus-renal failure syndrome +5 more	GConflicting classifications of pathogenicity
Select item 199108	NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val)	SCARB2 (A379V +1 more)	Single nucleotide variant (missense variant)	Action myoclonus-renal failure syndrome +3 more	GUncertain significance
Select item 196412	NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala)	SCARB2 (P128A)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 195245	NM_005506.4(SCARB2):c.246G>C (p.Arg82=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 138969	NM_005506.4(SCARB2):c.1239+14C>T	SCARB2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 30259	NM_005506.4(SCARB2):c.1187+2dup	SCARB2	Duplication (splice donor variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 30258	NM_005506.4(SCARB2):c.1258del (p.Glu420fs)	SCARB2 (E420fs +1 more)	Deletion (frameshift variant)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 30257	NM_005506.4(SCARB2):c.1114-2A>C	SCARB2	Single nucleotide variant (splice acceptor variant)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 7379	NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)	SCARB2 (W178*)	Single nucleotide variant (nonsense +1 more)	Action myoclonus-renal failure syndrome	GPathogenic
Select item 7378	NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)	SCARB2 (Q288* +1 more)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy +2 more	GPathogenic
Select item 7377	NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)	SCARB2 (W146fs)	Microsatellite (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 7376	NM_005506.4(SCARB2):c.1239+1G>T	SCARB2	Single nucleotide variant (splice donor variant)	Action myoclonus-renal failure syndrome	GPathogenic

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Items: 90