Related gene-specific medical variations for Gene (Select 5420) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2993798	NM_001018111.3(PODXL):c.92C>G (p.Ser31Cys)	LOC129999375, PODXL (S31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963572	NM_001018111.3(PODXL):c.100+11G>A	LOC129999375, PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791322	NM_001018111.3(PODXL):c.27G>C (p.Ala9=)	LOC129999375, PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713292	NM_001018111.3(PODXL):c.70_84del (p.Pro24_Pro28del)	LOC129999375, PODXL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2692883	NM_001018111.3(PODXL):c.66GTCGCC[7] (p.Ser31_Gln32insProSerProSerProSer)	LOC129999375, PODXL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2325608	NM_001018111.3(PODXL):c.4C>T (p.Arg2Cys)	LOC129999375, PODXL (R2C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323310	NM_001018111.3(PODXL):c.83C>T (p.Pro28Leu)	LOC129999375, PODXL (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2100347	NM_001018111.3(PODXL):c.59_70del (p.Leu20_Ser23del)	LOC129999375, PODXL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1925080	NM_001018111.3(PODXL):c.15G>A (p.Leu5=)	LOC129999375, PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527400	GRCh37/hg19 7q32.3(chr7:131187917-131443471)	PODXL	Copy number loss	not specified	GUncertain significance
Select item 1506546	NM_001018111.3(PODXL):c.73T>C (p.Ser25Pro)	LOC129999375, PODXL (S25P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433965	NM_001018111.3(PODXL):c.66GTCGCC[6] (p.24PS[6])	LOC129999375, PODXL	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1387757	NM_001018111.3(PODXL):c.69_89dup (p.Pro24_Pro30dup)	LOC129999375, PODXL	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1369009	NM_001018111.3(PODXL):c.5G>A (p.Arg2His)	LOC129999375, PODXL (R2H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299832	NM_001018111.3(PODXL):c.66GTCGCC[5] (p.24PS[5])	LOC129999375, PODXL	Microsatellite (inframe_insertion)	Nephrotic syndrome +1 more	GBenign
Select item 1276543	NM_001018111.3(PODXL):c.66GTCGCC[2] (p.24PS[2])	LOC129999375, PODXL	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1273260	NM_001018111.3(PODXL):c.-244C>A	PODXL, LOC129999375	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268967	NM_001018111.3(PODXL):c.34C>T (p.Leu12=)	LOC129999375, PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1065581	NM_001018111.3(PODXL):c.66GTCGCC[3] (p.24PS[3])	LOC129999375, PODXL	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 787869	NM_001018111.3(PODXL):c.30G>A (p.Leu10=)	LOC129999375, PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783506	NM_001018111.3(PODXL):c.73_76del (p.Ser25fs)	LOC129999375, PODXL (S25fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 783505	NM_001018111.3(PODXL):c.78_79del (p.Ser27fs)	LOC129999375, PODXL (S27fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 718521	NM_001018111.3(PODXL):c.40T>C (p.Leu14=)	LOC129999375, PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 218942	NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)	LOC129999375, PODXL (Q32fs)	Insertion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2	GLikely pathogenic

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Links from Gene

Items: 24