ClinVar for MedGen (Select 481535) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065900	NM_004998.4(MYO1E):c.2062G>C (p.Glu688Gln)	MYO1E (E688Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 3061884	NM_004998.4(MYO1E):c.1946G>A (p.Gly649Glu)	MYO1E (G649E)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 3042804	NM_004998.4(MYO1E):c.976C>T (p.Arg326Trp)	MYO1E (R326W)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 2582452	NM_004998.4(MYO1E):c.1085G>A (p.Arg362Gln)	MYO1E (R362Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2500430	NM_004998.4(MYO1E):c.141C>G (p.Tyr47Ter)	MYO1E (Y47*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 6 +1 more	GPathogenic
Select item 2433966	NM_004998.4(MYO1E):c.1080C>T (p.His360=)	MYO1E	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2431899	NM_004998.4(MYO1E):c.2050-400G>C	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2431896	NM_004998.4(MYO1E):c.2335-465C>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 2431527	NM_004998.4(MYO1E):c.2350C>A (p.Leu784Met)	MYO1E (L784M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GUncertain significance
Select item 1671743	NM_004998.4(MYO1E):c.2878+18C>T	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GLikely benign
Select item 1659224	NM_004998.4(MYO1E):c.147+14G>T	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1652885	NM_004998.4(MYO1E):c.2164+12A>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GLikely benign
Select item 1646452	NM_004998.4(MYO1E):c.3060C>T (p.Val1020=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1632483	NM_004998.4(MYO1E):c.2878+19G>A	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1630946	NM_004998.4(MYO1E):c.1770C>T (p.Asn590=)	MYO1E	Single nucleotide variant (synonymous variant)	MYO1E-related condition +2 more	GLikely benign
Select item 1629432	NM_004998.4(MYO1E):c.1530+14C>T	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1605734	NM_004998.4(MYO1E):c.2334+10_2334+11delinsGC	MYO1E	Indel (intron variant)	not provided +1 more	GLikely benign
Select item 1600020	NM_004998.4(MYO1E):c.1734A>G (p.Lys578=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1592383	NM_004998.4(MYO1E):c.1805+7G>A	MYO1E	Single nucleotide variant (intron variant)	MYO1E-related condition +2 more	GLikely benign
Select item 1587343	NM_004998.4(MYO1E):c.2628-8T>C	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GLikely benign
Select item 1554039	NM_004998.4(MYO1E):c.1065C>T (p.Leu355=)	MYO1E	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 6 +1 more	GLikely benign
Select item 1538526	NM_004998.4(MYO1E):c.2335-13C>T	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1537341	NM_004998.4(MYO1E):c.1275+12C>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GLikely benign
Select item 1525550	NM_004998.4(MYO1E):c.755_760del (p.Arg252_Glu254delinsLys)	MYO1E	Deletion (inframe_indel)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1519987	NM_004998.4(MYO1E):c.3118G>C (p.Gly1040Arg)	LOC112272600, MYO1E (G1040R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509550	NM_004998.4(MYO1E):c.1644A>C (p.Glu548Asp)	MYO1E (E548D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1506498	NM_004998.4(MYO1E):c.2812A>G (p.Asn938Asp)	MYO1E (N938D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1502219	NM_004998.4(MYO1E):c.1654G>A (p.Ala552Thr)	MYO1E (A552T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490282	NM_004998.4(MYO1E):c.2099G>A (p.Arg700Gln)	MYO1E (R700Q)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1457625	NM_004998.4(MYO1E):c.3081-6C>T	LOC112272600, MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1446567	NM_004998.4(MYO1E):c.2698C>T (p.His900Tyr)	MYO1E (H900Y)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1443163	NM_004998.4(MYO1E):c.818C>T (p.Thr273Met)	MYO1E (T273M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1439268	NM_004998.4(MYO1E):c.3007A>G (p.Thr1003Ala)	MYO1E (T1003A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1433723	NM_004998.4(MYO1E):c.2399A>T (p.Lys800Ile)	MYO1E (K800I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1414813	NM_004998.4(MYO1E):c.44A>G (p.Asn15Ser)	MYO1E (N15S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355347	NM_004998.4(MYO1E):c.20A>G (p.Tyr7Cys)	MYO1E (Y7C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1354141	NM_004998.4(MYO1E):c.433A>G (p.Ile145Val)	MYO1E (I145V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1347059	NM_004998.4(MYO1E):c.2334+5G>A	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1319060	NM_004998.4(MYO1E):c.2193G>T (p.Glu731Asp)	MYO1E (E731D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1301673	NM_033195.3(LDHAL6B):c.475G>C (p.Val159Leu)	LDHAL6B, MYO1E (V159L)	Single nucleotide variant (missense variant +1 more)	Focal segmental glomerulosclerosis 6	GLikely benign
Select item 1179070	NM_004998.4(MYO1E):c.979C>T (p.Gln327Ter)	MYO1E (Q327*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 6	GPathogenic
Select item 1170785	NM_004998.4(MYO1E):c.511-17C>T	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign/Likely benign
Select item 1170755	NM_004998.4(MYO1E):c.1617-12C>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign/Likely benign
Select item 1170132	NM_004998.4(MYO1E):c.978G>A (p.Arg326=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1168965	NM_004998.4(MYO1E):c.1616+17A>G	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign/Likely benign
Select item 1167068	NM_004998.4(MYO1E):c.2627+8C>T	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign
Select item 1165465	NM_004998.4(MYO1E):c.511-19A>T	MYO1E	Single nucleotide variant (intron variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign
Select item 1165400	NM_004998.4(MYO1E):c.1008C>T (p.Ser336=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1165399	NM_004998.4(MYO1E):c.2673A>G (p.Ala891=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1140011	NM_004998.4(MYO1E):c.2298C>T (p.Phe766=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1084634	NM_004998.4(MYO1E):c.2179T>C (p.Leu727=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1078921	NM_004998.4(MYO1E):c.669G>A (p.Gln223=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1060862	NM_004998.4(MYO1E):c.2450A>C (p.Glu817Ala)	MYO1E (E817A)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1058780	NM_004998.4(MYO1E):c.1151T>C (p.Ile384Thr)	MYO1E (I384T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1055596	NM_004998.4(MYO1E):c.2050-3C>T	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1042305	NM_004998.4(MYO1E):c.772A>G (p.Thr258Ala)	MYO1E (T258A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1038242	NM_004998.4(MYO1E):c.701A>G (p.Tyr234Cys)	MYO1E (Y234C)	Single nucleotide variant (missense variant)	MYO1E-related condition +2 more	GUncertain significance
Select item 1037008	NM_004998.4(MYO1E):c.839C>T (p.Ala280Val)	MYO1E (A280V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1019283	NM_004998.4(MYO1E):c.1747T>C (p.Tyr583His)	MYO1E (Y583H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +1 more	GUncertain significance
Select item 1013686	NM_004998.4(MYO1E):c.1618C>A (p.Pro540Thr)	MYO1E (P540T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1000300	NM_004998.4(MYO1E):c.2470G>C (p.Val824Leu)	MYO1E (V824L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 983002	NM_004998.4(MYO1E):c.332+8G>A	MYO1E	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 974435	NM_004998.4(MYO1E):c.2908C>T (p.Gln970Ter)	MYO1E (Q970*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 6	GPathogenic
Select item 974434	NM_004998.4(MYO1E):c.2481-12A>G	MYO1E	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 955556	NM_004998.4(MYO1E):c.487C>T (p.Arg163Trp)	MYO1E (R163W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 930196	NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val)	MYO1E (A472V)	Single nucleotide variant (missense variant)	Nephrotic syndrome	GUncertain significance
Select item 871066	NM_004998.4(MYO1E):c.2627C>G (p.Thr876Arg)	MYO1E (T876R)	Single nucleotide variant (missense variant)	MYO1E-related condition +2 more	GConflicting classifications of pathogenicity
Select item 807636	NM_004998.4(MYO1E):c.2060T>C (p.Leu687Ser)	MYO1E (L687S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GLikely pathogenic
Select item 785490	NM_004998.4(MYO1E):c.2130G>A (p.Val710=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 737078	NM_004998.4(MYO1E):c.2640G>A (p.Lys880=)	MYO1E	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 720699	NM_004998.4(MYO1E):c.643-4C>T	MYO1E	Single nucleotide variant (intron variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 719371	NM_004998.4(MYO1E):c.2304C>T (p.Asp768=)	MYO1E	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 6 +1 more	GBenign/Likely benign
Select item 501127	NM_004998.4(MYO1E):c.1999G>A (p.Asp667Asn)	MYO1E (D667N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 500038	NM_004998.4(MYO1E):c.554A>G (p.Asp185Gly)	MYO1E (D185G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6 +2 more	GBenign/Likely benign
Select item 30192	NM_004998.4(MYO1E):c.2085T>G (p.Tyr695Ter)	MYO1E (Y695*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 6	GPathogenic
Select item 30191	NM_004998.4(MYO1E):c.475G>C (p.Ala159Pro)	MYO1E (A159P)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 6	GPathogenic

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Items: 76