ClinVar for Gene (Select 10026) - ClinVar

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Links from Gene

Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306494	NM_005482.3(PIGK):c.632T>C (p.Met211Thr)	PIGK (M211T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306493	NM_005482.3(PIGK):c.70A>G (p.Ser24Gly)	PIGK (S24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306492	NM_005482.3(PIGK):c.778A>T (p.Ile260Phe)	PIGK (I260F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306491	NM_005482.3(PIGK):c.806A>G (p.Asn269Ser)	PIGK (N269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306490	NM_005482.3(PIGK):c.922C>T (p.Arg308Trp)	PIGK (R308W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306488	NM_005482.3(PIGK):c.584+4A>G	PIGK	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3306487	NM_005482.3(PIGK):c.161G>A (p.Arg54Gln)	PIGK (R54Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251832	NM_005482.3(PIGK):c.329_330insTT (p.Leu110_Asn111insTer)	PIGK	Insertion (frameshift variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 3234761	NM_005482.3(PIGK):c.618C>T (p.Cys206=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3212801	NM_005482.3(PIGK):c.32C>T (p.Ala11Val)	PIGK (A11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212800	NM_005482.3(PIGK):c.1062A>G (p.Ile354Met)	PIGK (I354M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067359	NM_005482.3(PIGK):c.234T>C (p.Pro78=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2662526	NM_005482.3(PIGK):c.1181T>C (p.Ile394Thr)	PIGK (I394T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662461	NM_005482.3(PIGK):c.38T>C (p.Val13Ala)	PIGK (V13A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638888	NM_005482.3(PIGK):c.21C>T (p.Leu7=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638887	NM_005482.3(PIGK):c.30T>C (p.Ala10=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638886	NM_005482.3(PIGK):c.699C>T (p.Leu233=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622591	NM_005482.3(PIGK):c.945G>T (p.Glu315Asp)	PIGK (E315D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601202	NM_005482.3(PIGK):c.443G>A (p.Arg148His)	PIGK (R148H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597310	NM_005482.3(PIGK):c.1084A>G (p.Lys362Glu)	PIGK (K362E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594500	NM_005482.3(PIGK):c.73G>T (p.Val25Leu)	PIGK (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2594499	NM_005482.3(PIGK):c.62C>T (p.Ser21Phe)	PIGK (S21F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557285	NM_005482.3(PIGK):c.388A>T (p.Asn130Tyr)	PIGK (N130Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554981	NM_005482.3(PIGK):c.803T>A (p.Met268Lys)	PIGK (M268K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541888	NM_005482.3(PIGK):c.481A>G (p.Met161Val)	PIGK (M161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513185	NM_005482.3(PIGK):c.820G>T (p.Val274Leu)	PIGK (V274L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409835	NM_005482.3(PIGK):c.611A>T (p.Asp204Val)	PIGK (D204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394173	NM_005482.3(PIGK):c.775G>A (p.Glu259Lys)	PIGK (E259K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389029	NM_005482.3(PIGK):c.841G>A (p.Val281Met)	PIGK (V281M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329426	NM_005482.3(PIGK):c.977T>C (p.Met326Thr)	PIGK (M326T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328464	NM_005482.3(PIGK):c.125A>G (p.His42Arg)	PIGK (H42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291257	NM_005482.3(PIGK):c.591T>A (p.Asn197Lys)	PIGK (N197K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288532	NM_005482.3(PIGK):c.335T>C (p.Val112Ala)	PIGK (V112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260909	NM_005482.3(PIGK):c.397C>T (p.Arg133Trp)	PIGK (R133W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2256290	NM_005482.3(PIGK):c.1066C>T (p.His356Tyr)	PIGK (H356Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1327024	NM_005482.3(PIGK):c.372C>T (p.Tyr124=)	PIGK	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures +1 more	GBenign
Select item 1327022	NM_005482.3(PIGK):c.*2C>G	PIGK	Single nucleotide variant (3 prime UTR variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures +1 more	GBenign
Select item 1306868	NM_005482.3(PIGK):c.-2A>T	PIGK	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1305272	NM_005482.3(PIGK):c.551C>T (p.Ala184Val)	PIGK (A184V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305271	NM_005482.3(PIGK):c.737T>A (p.Met246Lys)	PIGK (M246K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302638	NM_005482.3(PIGK):c.938C>A (p.Thr313Lys)	PIGK (T313K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1280784	NM_005482.3(PIGK):c.703-6C>T	PIGK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1279217	NM_005482.3(PIGK):c.46A>G (p.Thr16Ala)	PIGK (T16A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272074	NM_005482.3(PIGK):c.87dup (p.Ile30fs)	PIGK (I30fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 1272073	NM_005482.3(PIGK):c.610G>C (p.Asp204His)	PIGK (D204H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873122	NM_005482.3(PIGK):c.94-1G>C	PIGK	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873121	NM_005482.3(PIGK):c.97C>T (p.Gln33Ter)	PIGK (Q33*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873120	NM_005482.3(PIGK):c.479A>C (p.Tyr160Ser)	PIGK (Y160S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873119	NM_005482.3(PIGK):c.260C>T (p.Ala87Val)	PIGK (A87V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873118	NM_005482.3(PIGK):c.158C>T (p.Ser53Phe)	PIGK (S53F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 873117	NM_005482.3(PIGK):c.823T>C (p.Cys275Arg)	PIGK (C275R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	GPathogenic
Select item 686757	GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3	AK5, PIGK +1 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 443881	GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1	ACADM, AK5 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 69