55650[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 368873	NM_017837.3(PIGV):c.-370G>A	PIGV	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 297110	NM_017837.4(PIGV):c.-338A>C	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 297111	NM_017837.4(PIGV):c.-333C>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GBenign
Select item 297112	NM_017837.4(PIGV):c.-323C>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876577	NM_017837.4(PIGV):c.-184G>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 876578	NM_017837.4(PIGV):c.-166G>A	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 873720	NM_017837.4(PIGV):c.-68G>A	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 682186	NM_017837.4(PIGV):c.-62C>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1214511	NM_017837.4(PIGV):c.-58+430G>A	PIGV	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2504749	NM_017837.4(PIGV):c.-57-7G>A	PIGV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 297113	NM_017837.4(PIGV):c.-57-6G>A	PIGV	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 432886	NM_017837.4(PIGV):c.-8G>T	PIGV	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 393109	NM_017837.4(PIGV):c.5G>C (p.Trp2Ser)	PIGV (W2S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1402673	NM_017837.4(PIGV):c.22C>T (p.Arg8Trp)	PIGV (R8W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1489811	NM_017837.4(PIGV):c.23G>A (p.Arg8Gln)	PIGV (R8Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1412897	NM_017837.4(PIGV):c.23G>T (p.Arg8Leu)	PIGV (R8L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2901340	NM_017837.4(PIGV):c.27G>A (p.Lys9=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2034918	NM_017837.4(PIGV):c.37A>G (p.Arg13Gly)	PIGV (R13G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1593245	NM_017837.4(PIGV):c.39G>A (p.Arg13=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2879090	NM_017837.4(PIGV):c.45A>G (p.Ala15=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1354295	NM_017837.4(PIGV):c.50G>C (p.Ser17Thr)	PIGV (S17T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 547943	NM_017837.4(PIGV):c.55C>T (p.Arg19Cys)	PIGV (R19C)	Single nucleotide variant (missense variant +2 more)	Hyperphosphatasia with intellectual disability syndrome 1	GLikely pathogenic
Select item 1352869	NM_017837.4(PIGV):c.56G>A (p.Arg19His)	PIGV (R19H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 873721	NM_017837.4(PIGV):c.78+4A>G	PIGV	Single nucleotide variant (intron variant)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 1612677	NM_017837.4(PIGV):c.78+11_78+12insGGGA	PIGV	Insertion (intron variant)	not provided	GLikely benign
Select item 2853956	NM_017837.4(PIGV):c.78+12A>T	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619011	NM_017837.4(PIGV):c.78+18T>C	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729202	NM_017837.4(PIGV):c.78+20T>G	PIGV	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104678	NM_017837.4(PIGV):c.79-3C>T	PIGV	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2155564	NM_017837.4(PIGV):c.87C>G (p.Phe29Leu)	PIGV (F29L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1468655	NM_017837.4(PIGV):c.88A>G (p.Asn30Asp)	PIGV (N30D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 393197	NM_017837.4(PIGV):c.94A>G (p.Ile32Val)	PIGV (I32V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 297114	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)	PIGV (P34L)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GBenign/Likely benign
Select item 1368556	NM_017837.4(PIGV):c.109C>G (p.His37Asp)	PIGV (H37D)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 390654	NM_017837.4(PIGV):c.111T>C (p.His37=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 449659	NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)	PIGV (E39K)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2119588	NM_017837.4(PIGV):c.120C>T (p.Ala40=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1419807	NM_017837.4(PIGV):c.126_127del (p.Pro43fs)	PIGV (P43fs)	Microsatellite (frameshift variant +3 more)	not provided	GUncertain significance
Select item 3306523	NM_017837.4(PIGV):c.123C>G (p.Phe41Leu)	PIGV (F41L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2999646	NM_017837.4(PIGV):c.129T>G (p.Pro43=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1492446	NM_017837.4(PIGV):c.130C>G (p.Pro44Ala)	PIGV (P44A)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1357148	NM_017837.4(PIGV):c.130C>T (p.Pro44Ser)	PIGV (P44S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 420315	NM_017837.4(PIGV):c.133C>T (p.Arg45Cys)	PIGV (R45C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 288236	NM_017837.4(PIGV):c.134G>A (p.Arg45His)	PIGV (R45H)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 3338058	NM_017837.4(PIGV):c.146C>T (p.Ser49Leu)	PIGV (S49L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 1700521	NM_017837.4(PIGV):c.146C>A (p.Ser49Ter)	PIGV (S49*)	Single nucleotide variant (nonsense +3 more)	PIGV-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2121498	NM_017837.4(PIGV):c.148G>T (p.Gly50Cys)	PIGV (G50C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1375446	NM_017837.4(PIGV):c.158A>G (p.Asp53Gly)	PIGV (D53G)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2288768	NM_017837.4(PIGV):c.164T>C (p.Leu55Pro)	PIGV (L55P)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1637499	NM_017837.4(PIGV):c.165C>T (p.Leu55=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2032058	NM_017837.4(PIGV):c.180G>C (p.Leu60=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2074725	NM_017837.4(PIGV):c.181G>A (p.Gly61Ser)	PIGV (G61S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 388434	NM_017837.4(PIGV):c.183C>T (p.Gly61=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 1029490	NM_017837.4(PIGV):c.184G>A (p.Gly62Ser)	PIGV (G62S)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +2 more	GUncertain significance
Select item 2174770	NM_017837.4(PIGV):c.198G>A (p.Trp66Ter)	PIGV (W66*)	Single nucleotide variant (nonsense +3 more)	not provided	GConflicting classifications of pathogenicity
Select item 1494137	NM_017837.4(PIGV):c.199G>A (p.Asp67Asn)	PIGV (D67N)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2708357	NM_017837.4(PIGV):c.214T>C (p.Leu72=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2559377	NM_017837.4(PIGV):c.218T>G (p.Phe73Cys)	PIGV (F73C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3234215	NM_017837.4(PIGV):c.222T>C (p.Ile74=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 873722	NM_017837.4(PIGV):c.223G>A (p.Ala75Thr)	PIGV (A75T)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +1 more	GUncertain significance
Select item 1164077	NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys)	PIGV (Y81C)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 2229103	NM_017837.4(PIGV):c.251A>G (p.Asn84Ser)	PIGV (N84S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 388918	NM_017837.4(PIGV):c.258C>T (p.Ala86=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 1523269	NM_017837.4(PIGV):c.262T>C (p.Phe88Leu)	PIGV (F88L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 873723	NM_017837.4(PIGV):c.265C>T (p.Pro89Ser)	PIGV (P89S)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 1414692	NM_017837.4(PIGV):c.266C>T (p.Pro89Leu)	PIGV (P89L)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1440897	NM_017837.4(PIGV):c.268G>A (p.Gly90Ser)	PIGV (G90S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2761915	NM_017837.4(PIGV):c.285G>C (p.Leu95=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1372816	NM_017837.4(PIGV):c.287T>C (p.Leu96Pro)	PIGV (L96P)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2015237	NM_017837.4(PIGV):c.288G>T (p.Leu96=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1207235	NM_017837.4(PIGV):c.304T>C (p.Leu102=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 873724	NM_017837.4(PIGV):c.312C>G (p.Pro104=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 1522861	NM_017837.4(PIGV):c.316C>T (p.Arg106Trp)	PIGV (R106W)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2141208	NM_017837.4(PIGV):c.317G>A (p.Arg106Gln)	PIGV (R106Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2434852	NM_017837.4(PIGV):c.320G>T (p.Gly107Val)	PIGV (G107V)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1	GUncertain significance
Select item 2192097	NM_017837.4(PIGV):c.324A>G (p.Leu108=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1606196	NM_017837.4(PIGV):c.325C>T (p.Leu109=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1923604	NM_017837.4(PIGV):c.327G>A (p.Leu109=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2704731	NM_017837.4(PIGV):c.331C>T (p.Leu111=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1665030	NM_017837.4(PIGV):c.333A>T (p.Leu111=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 513865	NM_017837.4(PIGV):c.333A>G (p.Leu111=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 2171573	NM_017837.4(PIGV):c.334C>T (p.Arg112Cys)	PIGV (R112C)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2135233	NM_017837.4(PIGV):c.334C>A (p.Arg112Ser)	PIGV (R112S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1430033	NM_017837.4(PIGV):c.335G>A (p.Arg112His)	PIGV (R112H)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 518186	NM_017837.4(PIGV):c.346C>T (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 297115	NM_017837.4(PIGV):c.348G>A (p.Leu116=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289202	NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val)	PIGV (I117V)	Indel (missense variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297116	NM_017837.4(PIGV):c.349A>G (p.Ile117Val)	PIGV (I117V)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 515557	NM_017837.4(PIGV):c.354G>A (p.Ser118=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 514125	NM_017837.4(PIGV):c.354G>C (p.Ser118=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 1622810	NM_017837.4(PIGV):c.360A>G (p.Ala120=)	PIGV	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1308960	NM_017837.4(PIGV):c.368A>G (p.Asn123Ser)	PIGV (N123S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 387114	NM_017837.4(PIGV):c.390T>C (p.Ala130=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2185410	NM_017837.4(PIGV):c.409C>G (p.Leu137Val)	PIGV (L10V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1969620	NM_017837.4(PIGV):c.418C>T (p.Leu140=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3342190	NM_017837.4(PIGV):c.420G>A (p.Leu140=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2741966	NM_017837.4(PIGV):c.420G>T (p.Leu140=)	PIGV	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1319277	NM_017837.4(PIGV):c.428A>G (p.His143Arg)	PIGV (H143R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

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