ClinVar for Gene (Select 5420) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351157	NM_001018111.3(PODXL):c.208A>G (p.Lys70Glu)	PODXL (K70E)	Single nucleotide variant (missense variant)	PODXL-related disorder	GUncertain significance
Select item 3308225	NM_001018111.3(PODXL):c.479G>T (p.Gly160Val)	PODXL (G160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216186	NM_001018111.3(PODXL):c.989C>T (p.Thr330Ile)	PODXL (T330I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216183	NM_001018111.3(PODXL):c.344A>C (p.Asn115Thr)	PODXL (N115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216182	NM_001018111.3(PODXL):c.1456C>T (p.Arg486Cys)	PODXL (R454C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216181	NM_001018111.3(PODXL):c.1450C>T (p.His484Tyr)	PODXL (H452Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3054071	NM_001018111.3(PODXL):c.1461C>A (p.Leu487=)	PODXL	Single nucleotide variant (synonymous variant)	PODXL-related disorder	GLikely benign
Select item 3042416	NM_001018111.3(PODXL):c.804G>A (p.Ala268=)	PODXL	Single nucleotide variant (synonymous variant)	PODXL-related disorder	GLikely benign
Select item 3034356	NM_001018111.3(PODXL):c.*6T>G	PODXL	Single nucleotide variant (3 prime UTR variant)	PODXL-related disorder	GLikely benign
Select item 3033655	NM_001018111.3(PODXL):c.*8T>G	PODXL	Single nucleotide variant (3 prime UTR variant)	PODXL-related disorder	GLikely benign
Select item 3012066	NM_001018111.3(PODXL):c.687G>A (p.Pro229=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010321	NM_001018111.3(PODXL):c.864G>A (p.Thr288=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006886	NM_001018111.3(PODXL):c.1347G>A (p.Gly449=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006731	NM_001018111.3(PODXL):c.915G>A (p.Leu305=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003860	NM_001018111.3(PODXL):c.216C>T (p.Asn72=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000086	NM_001018111.3(PODXL):c.488G>A (p.Ser163Asn)	PODXL (S163N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2992859	NM_001018111.3(PODXL):c.668G>A (p.Gly223Asp)	PODXL (G223D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992348	NM_001018111.3(PODXL):c.1115C>T (p.Ser372Leu)	PODXL (S340L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982218	NM_001018111.3(PODXL):c.1524T>C (p.His508=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980973	NM_001018111.3(PODXL):c.568C>T (p.Arg190Ter)	PODXL (R190*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2980187	NM_001018111.3(PODXL):c.1102-16G>A	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979790	NM_001018111.3(PODXL):c.307G>T (p.Val103Phe)	PODXL (V103F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979449	NM_001018111.3(PODXL):c.1053A>G (p.Thr351=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973782	NM_001018111.3(PODXL):c.1480-1G>A	PODXL	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2969052	NM_001018111.3(PODXL):c.991C>T (p.Pro331Ser)	PODXL (P299S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964881	NM_001018111.3(PODXL):c.116C>T (p.Thr39Met)	PODXL (T39M)	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 2960394	NM_001018111.3(PODXL):c.547C>G (p.Pro183Ala)	PODXL (P183A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958679	NM_001018111.3(PODXL):c.591T>G (p.Pro197=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2957944	NM_001018111.3(PODXL):c.612G>A (p.Ser204=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955908	NM_001018111.3(PODXL):c.392C>T (p.Thr131Ile)	PODXL (T131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909370	NM_001018111.3(PODXL):c.702C>T (p.Thr234=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909301	NM_001018111.3(PODXL):c.1398C>T (p.Ile466=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907677	NM_001018111.3(PODXL):c.460G>A (p.Asp154Asn)	PODXL (D154N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906794	NM_001018111.3(PODXL):c.246C>T (p.Thr82=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895833	NM_001018111.3(PODXL):c.1399G>A (p.Val467Ile)	PODXL (V435I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2894455	NM_001018111.3(PODXL):c.333C>T (p.Gly111=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893111	NM_001018111.3(PODXL):c.1426G>A (p.Val476Met)	PODXL (V444M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888177	NM_001018111.3(PODXL):c.1611C>T (p.Ser537=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877626	NM_001018111.3(PODXL):c.1102-4A>G	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875039	NM_001018111.3(PODXL):c.341G>T (p.Gly114Val)	PODXL (G114V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874695	NM_001018111.3(PODXL):c.1311+11C>T	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861752	NM_001018111.3(PODXL):c.1352C>T (p.Pro451Leu)	PODXL (P419L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2808757	NM_001018111.3(PODXL):c.456A>G (p.Ala152=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802533	NM_001018111.3(PODXL):c.1101+6T>C	PODXL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2728004	NM_001018111.3(PODXL):c.951C>T (p.Ser317=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714012	NM_001018111.3(PODXL):c.1384del (p.Leu462fs)	PODXL (L430fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2713292	NM_001018111.3(PODXL):c.70_84del (p.Pro24_Pro28del)	LOC129999375, PODXL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2711628	NM_001018111.3(PODXL):c.269C>T (p.Pro90Leu)	PODXL (P90L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698532	NM_001018111.3(PODXL):c.1483C>T (p.Arg495Trp)	PODXL (R495W +1 more)	Single nucleotide variant (missense variant)	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 2657999	NM_001018111.3(PODXL):c.745G>A (p.Glu249Lys)	PODXL (E249K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2635821	NM_001018111.3(PODXL):c.230C>T (p.Ser77Leu)	PODXL (S77L)	Single nucleotide variant (missense variant)	PODXL-related disorder	GUncertain significance
Select item 2595685	NM_001018111.3(PODXL):c.1484G>A (p.Arg495Gln)	PODXL (R495Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568607	NM_001018111.3(PODXL):c.1652A>G (p.Asp551Gly)	PODXL (D519G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2562275	NM_001018111.3(PODXL):c.908C>T (p.Thr303Met)	PODXL (T271M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528553	NM_001018111.3(PODXL):c.161C>T (p.Thr54Ile)	PODXL (T54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493234	NM_001018111.3(PODXL):c.854C>T (p.Ala285Val)	PODXL (A285V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490254	NM_001018111.3(PODXL):c.887T>C (p.Val296Ala)	PODXL (V296A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428082	NM_001018111.3(PODXL):c.1101+8G>C	PODXL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 2385242	NM_001018111.3(PODXL):c.953C>T (p.Pro318Leu)	PODXL (P318L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358375	NM_001018111.3(PODXL):c.1577A>T (p.Lys526Met)	PODXL (K494M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358374	NM_001018111.3(PODXL):c.1576A>G (p.Lys526Glu)	PODXL (K526E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330859	NM_001018111.3(PODXL):c.571C>A (p.Gln191Lys)	PODXL (Q191K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2282586	NM_001018111.3(PODXL):c.1637C>T (p.Thr546Ile)	PODXL (T514I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258853	NM_001018111.3(PODXL):c.629T>A (p.Met210Lys)	PODXL (M210K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258130	NM_001018111.3(PODXL):c.1193G>A (p.Arg398Gln)	PODXL (R366Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239028	NM_001018111.3(PODXL):c.439A>C (p.Ser147Arg)	PODXL (S147R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197484	NM_001018111.3(PODXL):c.1570_1572del (p.Glu524del)	PODXL (E492del +1 more)	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2187497	NM_001018111.3(PODXL):c.206C>A (p.Ser69Tyr)	PODXL (S69Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186383	NM_001018111.3(PODXL):c.584C>T (p.Thr195Met)	PODXL (T195M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2183867	NM_001018111.3(PODXL):c.1206T>C (p.Val402=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181448	NM_001018111.3(PODXL):c.930G>A (p.Leu310=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2152815	NM_001018111.3(PODXL):c.863C>T (p.Thr288Met)	PODXL (T256M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2151187	NM_001018111.3(PODXL):c.319G>A (p.Val107Met)	PODXL (V107M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2144349	NM_001018111.3(PODXL):c.909G>A (p.Thr303=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115452	NM_001018111.3(PODXL):c.1443C>G (p.Gly481=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100347	NM_001018111.3(PODXL):c.59_70del (p.Leu20_Ser23del)	LOC129999375, PODXL	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2097201	NM_001018111.3(PODXL):c.101-15T>G	PODXL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082390	NM_001018111.3(PODXL):c.382A>T (p.Ser128Cys)	PODXL (S128C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081541	NM_001018111.3(PODXL):c.1425C>T (p.Leu475=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2074789	NM_001018111.3(PODXL):c.1479+5G>A	PODXL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2073783	NM_001018111.3(PODXL):c.1096C>T (p.Leu366Phe)	PODXL (L366F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2062594	NM_001018111.3(PODXL):c.172A>G (p.Thr58Ala)	PODXL (T58A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2049320	NM_001018111.3(PODXL):c.1015A>T (p.Ser339Cys)	PODXL (S307C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2049227	NM_001018111.3(PODXL):c.1640A>G (p.Lys547Arg)	PODXL (K515R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2047315	NM_001018111.3(PODXL):c.981C>T (p.Tyr327=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2046488	NM_001018111.3(PODXL):c.1186G>A (p.Gly396Ser)	PODXL (G396S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2042875	NM_001018111.3(PODXL):c.1108G>A (p.Gly370Ser)	PODXL (G338S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027498	NM_001018111.3(PODXL):c.990A>G (p.Thr330=)	PODXL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026207	NM_001018111.3(PODXL):c.1185C>A (p.Cys395Ter)	PODXL (C363* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2008768	NM_001018111.3(PODXL):c.596C>T (p.Ala199Val)	PODXL (A199V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997103	NM_001018111.3(PODXL):c.134C>T (p.Thr45Ile)	PODXL (T45I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993350	NM_001018111.3(PODXL):c.1474G>A (p.Asp492Asn)	PODXL (D460N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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