10026[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	LOC129930731, LOC129930732 +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
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 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	GBenign
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 2597310	NM_005482.3(PIGK):c.1084A>G (p.Lys362Glu)	PIGK (K362E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2329426	NM_005482.3(PIGK):c.977T>C (p.Met326Thr)	PIGK (M326T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1302638	NM_005482.3(PIGK):c.938C>A (p.Thr313Lys)	PIGK (T313K)	Single nucleotide variant (missense variant)	not provided	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 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 2513185	NM_005482.3(PIGK):c.820G>T (p.Val274Leu)	PIGK (V274L)	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 2394173	NM_005482.3(PIGK):c.775G>A (p.Glu259Lys)	PIGK (E259K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1280784	NM_005482.3(PIGK):c.703-6C>T	PIGK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2638886	NM_005482.3(PIGK):c.699C>T (p.Leu233=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2291257	NM_005482.3(PIGK):c.591T>A (p.Asn197Lys)	PIGK (N197K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2541888	NM_005482.3(PIGK):c.481A>G (p.Met161Val)	PIGK (M161V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2601202	NM_005482.3(PIGK):c.443G>A (p.Arg148His)	PIGK (R148H)	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 2557285	NM_005482.3(PIGK):c.388A>T (p.Asn130Tyr)	PIGK (N130Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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	GBenign
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 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 3067359	NM_005482.3(PIGK):c.234T>C (p.Pro78=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2328464	NM_005482.3(PIGK):c.125A>G (p.His42Arg)	PIGK (H42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 1279217	NM_005482.3(PIGK):c.46A>G (p.Thr16Ala)	PIGK (T16A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2638887	NM_005482.3(PIGK):c.30T>C (p.Ala10=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638888	NM_005482.3(PIGK):c.21C>T (p.Leu7=)	PIGK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306868	NM_005482.3(PIGK):c.-2A>T	PIGK	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ADGRL4, AK5 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	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	ANGPTL7, C1orf127 +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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +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	LHX8, MIGA1 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 58