ClinVar for Gene (Select 65095) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3289305	NM_023008.5(KRI1):c.173T>A (p.Phe58Tyr)	KRI1 (F58Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289304	NM_023008.5(KRI1):c.808G>A (p.Gly270Ser)	KRI1 (G270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289303	NM_023008.5(KRI1):c.109G>C (p.Gly37Arg)	KRI1 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289302	NM_023008.5(KRI1):c.898T>C (p.Phe300Leu)	KRI1 (F300L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289301	NM_023008.5(KRI1):c.-2C>G	KRI1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3289300	NM_023008.5(KRI1):c.2060G>A (p.Arg687His)	KRI1 (R687H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289299	NM_023008.5(KRI1):c.1258G>A (p.Glu420Lys)	KRI1 (E420K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289298	NM_023008.5(KRI1):c.811C>T (p.Pro271Ser)	KRI1 (P271S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289297	NM_023008.5(KRI1):c.20C>T (p.Ser7Leu)	KRI1 (S7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289296	NM_023008.5(KRI1):c.1712G>A (p.Arg571Gln)	KRI1 (R571Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289295	NM_023008.5(KRI1):c.1007G>A (p.Arg336Gln)	KRI1 (R336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289294	NM_023008.5(KRI1):c.-5C>A	KRI1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3289293	NM_023008.5(KRI1):c.463G>C (p.Glu155Gln)	KRI1 (E155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289292	NM_023008.5(KRI1):c.31C>T (p.Arg11Trp)	KRI1 (R11W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289291	NM_023008.5(KRI1):c.1219G>A (p.Gly407Arg)	KRI1 (G407R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248458	NC_000019.9:g.(?_10461510)_(10941723_?)dup	AP1M2, ATG4D +12 more	Duplication	Immunodeficiency 35	GUncertain significance
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3116285	NM_023008.5(KRI1):c.893A>G (p.Tyr298Cys)	KRI1 (Y298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116284	NM_023008.5(KRI1):c.733C>G (p.Leu245Val)	KRI1 (L245V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116282	NM_023008.5(KRI1):c.643C>T (p.Pro215Ser)	KRI1 (P215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116281	NM_023008.5(KRI1):c.526G>A (p.Gly176Ser)	KRI1 (G176S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116280	NM_023008.5(KRI1):c.481A>G (p.Lys161Glu)	KRI1 (K161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116278	NM_023008.5(KRI1):c.2093G>A (p.Gly698Glu)	KRI1 (G698E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116277	NM_023008.5(KRI1):c.2066T>C (p.Leu689Pro)	KRI1 (L689P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116276	NM_023008.5(KRI1):c.2011C>T (p.Arg671Cys)	KRI1 (R671C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116275	NM_023008.5(KRI1):c.1966C>T (p.Arg656Trp)	KRI1, LOC130063513 (R656W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116273	NM_023008.5(KRI1):c.1866C>G (p.Ser622Arg)	KRI1, LOC130063513 (S622R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116272	NM_023008.5(KRI1):c.1780G>C (p.Glu594Gln)	KRI1 (E594Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116271	NM_023008.5(KRI1):c.1715C>T (p.Ala572Val)	KRI1 (A572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116270	NM_023008.5(KRI1):c.149A>T (p.Asp50Val)	KRI1 (D50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116269	NM_023008.5(KRI1):c.1624G>A (p.Ala542Thr)	KRI1 (A542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116268	NM_023008.5(KRI1):c.1234G>A (p.Glu412Lys)	KRI1 (E412K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116267	NM_023008.5(KRI1):c.1216T>C (p.Tyr406His)	KRI1 (Y406H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116265	NM_023008.5(KRI1):c.1069A>G (p.Lys357Glu)	KRI1 (K357E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067315	NM_023008.5(KRI1):c.1455C>T (p.Ala485=)	KRI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684884	GRCh37/hg19 19p13.2(chr19:10477778-11154144)x3	AP1M2, ATG4D +18 more	Copy number gain	not provided	GUncertain significance
Select item 2649297	NM_023008.5(KRI1):c.1716G>A (p.Ala572=)	KRI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2552187	NM_023008.5(KRI1):c.1988T>C (p.Met663Thr)	KRI1 (M663T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2551518	NM_023008.5(KRI1):c.1405G>A (p.Glu469Lys)	KRI1 (E469K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546927	NM_023008.5(KRI1):c.1186C>T (p.Leu396Phe)	KRI1 (L396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526291	NM_023008.5(KRI1):c.70C>T (p.Arg24Trp)	KRI1 (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522192	NM_023008.5(KRI1):c.1289C>T (p.Thr430Met)	KRI1 (T430M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515687	NM_023008.5(KRI1):c.1496C>T (p.Thr499Met)	KRI1 (T499M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498798	GRCh37/hg19 19p13.2(chr19:10624491-10969019)x3	ILF3, AP1M2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2488959	NM_023008.5(KRI1):c.1714G>T (p.Ala572Ser)	KRI1 (A572S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464109	NM_023008.5(KRI1):c.1751G>A (p.Arg584Gln)	KRI1 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463309	NM_023008.5(KRI1):c.1171G>A (p.Ala391Thr)	KRI1 (A391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462142	NM_023008.5(KRI1):c.449C>T (p.Ser150Leu)	KRI1 (S150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458162	NM_023008.5(KRI1):c.1853C>A (p.Ala618Asp)	KRI1, LOC130063513 (A618D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408614	NM_023008.5(KRI1):c.835G>A (p.Asp279Asn)	KRI1 (D279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408503	NM_023008.5(KRI1):c.931A>G (p.Lys311Glu)	KRI1 (K311E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407976	NM_023008.5(KRI1):c.665C>T (p.Thr222Met)	KRI1 (T222M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406203	NM_023008.5(KRI1):c.2045A>C (p.Lys682Thr)	KRI1 (K682T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392106	NM_023008.5(KRI1):c.1711C>T (p.Arg571Trp)	KRI1 (R571W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348868	NM_023008.5(KRI1):c.2098A>C (p.Lys700Gln)	KRI1 (K700Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326080	NM_023008.5(KRI1):c.2077C>T (p.Arg693Trp)	KRI1 (R693W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312548	NM_023008.5(KRI1):c.2T>C (p.Met1Thr)	KRI1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284536	NM_023008.5(KRI1):c.1400A>T (p.Lys467Met)	KRI1 (K467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283960	NM_023008.5(KRI1):c.493C>T (p.Arg165Trp)	KRI1 (R165W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272005	NM_023008.5(KRI1):c.1432C>T (p.Arg478Cys)	KRI1 (R478C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260619	NM_023008.5(KRI1):c.626A>G (p.Gln209Arg)	KRI1 (Q209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255707	NM_023008.5(KRI1):c.1565G>A (p.Arg522His)	KRI1 (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254864	NM_023008.5(KRI1):c.1895A>G (p.Gln632Arg)	KRI1, LOC130063513 (Q632R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247190	NM_023008.5(KRI1):c.103C>A (p.Arg35Ser)	KRI1 (R35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245682	NM_023008.5(KRI1):c.952G>A (p.Ala318Thr)	KRI1 (A318T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242155	NM_023008.5(KRI1):c.1648C>T (p.Arg550Trp)	KRI1 (R550W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232501	NM_023008.5(KRI1):c.20C>G (p.Ser7Trp)	KRI1 (S7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225297	NM_023008.5(KRI1):c.833A>G (p.Asp278Gly)	KRI1 (D278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223095	NM_023008.5(KRI1):c.1876C>T (p.Pro626Ser)	KRI1, LOC130063513 (P626S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215733	NM_023008.5(KRI1):c.1796C>T (p.Ala599Val)	KRI1 (A599V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211011	NM_023008.5(KRI1):c.2002G>A (p.Glu668Lys)	KRI1 (E668K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205955	NM_023008.5(KRI1):c.3G>T (p.Met1Ile)	KRI1 (M1I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526655	GRCh37/hg19 19p13.2(chr19:10584393-10938252)	MIR199A1, SLC44A2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816065	GRCh37/hg19 19p13.2(chr19:10632623-11135294)x3	AP1M2, QTRT1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 89