1491[geneid] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	LOC129930732, LOC129930733 +269 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +252 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	TYW3, UBE2U +209 more	Copy number gain	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 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 59972	GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1	ANKRD13C, ANKRD13C-DT +80 more	Copy number loss	See cases	GPathogenic
Select item 148089	GRCh38/hg38 1p31.1(chr1:69324212-70840573)x1	ANKRD13C, ANKRD13C-DT +25 more	Copy number loss	See cases	GUncertain significance
Select item 298026	NM_001902.5(CTH):c.-151T>C	CTH, LOC129930756	Single nucleotide variant	Cystathioninuria	GUncertain significance
Select item 298027	NM_001902.6(CTH):c.-140A>T	CTH, LOC129930756	Single nucleotide variant (5 prime UTR variant)	Cystathioninuria	GLikely benign
Select item 298028	NM_001902.6(CTH):c.-3A>G	CTH	Single nucleotide variant (5 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876319	NM_001902.6(CTH):c.15C>A (p.Asp5Glu)	CTH (D5E)	Single nucleotide variant (missense variant)	Cystathioninuria +1 more	GUncertain significance
Select item 2290149	NM_001902.6(CTH):c.37C>A (p.Pro13Thr)	CTH (P13T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494606	NM_001902.6(CTH):c.128T>C (p.Leu43Pro)	CTH (L43P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876320	NM_001902.6(CTH):c.129G>A (p.Leu43=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria	GLikely benign
Select item 2939	NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	CTH (T67I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2226265	NM_001902.6(CTH):c.269G>C (p.Gly90Ala)	CTH (G90A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331868	NM_001902.6(CTH):c.289A>G (p.Ile97Val)	CTH (I97V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300378	NM_001902.6(CTH):c.311G>A (p.Gly104Glu)	CTH (G104E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298029	NM_001902.6(CTH):c.346+7G>A	CTH	Single nucleotide variant (intron variant)	Cystathioninuria +2 more	GConflicting classifications of pathogenicity
Select item 3078611	NM_001902.6(CTH):c.381A>T (p.Glu127Asp)	CTH (E127D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298030	NM_001902.6(CTH):c.381A>G (p.Glu127=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria	GUncertain significance
Select item 298031	NM_001902.6(CTH):c.430G>C (p.Glu144Gln)	CTH (E144Q +1 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 631615	NM_001902.6(CTH):c.465G>A (p.Trp155Ter)	CTH (W155* +1 more)	Single nucleotide variant (nonsense +1 more)	Cystathioninuria	GUncertain significance
Select item 2552199	NM_001902.6(CTH):c.473C>T (p.Thr158Ile)	CTH (T126I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 298032	NM_001902.6(CTH):c.495G>T (p.Lys165Asn)	CTH (K165N +1 more)	Single nucleotide variant (missense variant +1 more)	Cystathioninuria	GUncertain significance
Select item 2543546	NM_001902.6(CTH):c.500T>C (p.Ile167Thr)	CTH (I135T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 298033	NM_001902.6(CTH):c.541G>A (p.Asp181Asn)	CTH (D181N +1 more)	Single nucleotide variant (missense variant +1 more)	Cystathioninuria +1 more	GUncertain significance
Select item 298034	NM_001902.6(CTH):c.589-3C>T	CTH	Single nucleotide variant (intron variant)	Cystathioninuria	GUncertain significance
Select item 874345	NM_001902.6(CTH):c.647-15G>C	CTH	Single nucleotide variant (intron variant)	Cystathioninuria	GUncertain significance
Select item 3078612	NM_001902.6(CTH):c.673G>A (p.Val225Met)	CTH (V225M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874346	NM_001902.6(CTH):c.685T>C (p.Cys229Arg)	CTH (C185R +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 3078613	NM_001902.6(CTH):c.700A>G (p.Asn234Asp)	CTH (N190D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874347	NM_001902.6(CTH):c.710G>T (p.Arg237Leu)	CTH (R193L +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 2940	NM_001902.6(CTH):c.718C>G (p.Gln240Glu)	CTH (Q240E +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GPathogenic
Select item 874348	NM_001902.6(CTH):c.724+10A>G	CTH	Single nucleotide variant (intron variant)	Cystathioninuria	GUncertain significance
Select item 2237800	NM_001902.6(CTH):c.748A>G (p.Ile250Val)	CTH (I206V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2937	NM_001902.6(CTH):c.784_785del (p.Leu262fs)	CTH (L218fs +2 more)	Microsatellite (frameshift variant)	Cystathioninuria	GPathogenic
Select item 225330	NM_001902.6(CTH):c.793C>T (p.Arg265Ter)	CTH (R233* +2 more)	Single nucleotide variant (nonsense)	Cystathioninuria	GLikely pathogenic
Select item 874349	NM_001902.6(CTH):c.794G>T (p.Arg265Leu)	CTH (R221L +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 874350	NM_001902.6(CTH):c.816C>T (p.Asn272=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria	GUncertain significance
Select item 3078614	NM_001902.6(CTH):c.841G>A (p.Glu281Lys)	CTH (E237K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298035	NM_001902.6(CTH):c.864G>A (p.Lys288=)	CTH	Single nucleotide variant (synonymous variant)	Cystathioninuria +2 more	GConflicting classifications of pathogenicity
Select item 3078615	NM_001902.6(CTH):c.901G>A (p.Glu301Lys)	CTH (E257K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298036	NM_001902.6(CTH):c.995T>C (p.Leu332Pro)	CTH (L332P +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 298037	NM_001902.6(CTH):c.1033G>A (p.Glu345Lys)	CTH (E345K +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria	GUncertain significance
Select item 631617	NM_001902.6(CTH):c.1052+1G>C	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 631616	NM_001902.6(CTH):c.1052+1G>A	CTH	Single nucleotide variant (splice donor variant)	Cystathioninuria	GUncertain significance
Select item 1033458	NM_001902.6(CTH):c.1064del (p.Thr355fs)	CTH (T323fs +2 more)	Deletion (frameshift variant)	Cystathioninuria	GPathogenic
Select item 298040	NM_001902.6(CTH):c.1191+15TG[18]	CTH	Microsatellite (intron variant)	Cystathioninuria	GLikely benign
Select item 298039	NM_001902.6(CTH):c.1191+15TG[17]	CTH	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 298038	NM_001902.6(CTH):c.1191+15TG[16]	CTH	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 2284525	NM_001902.6(CTH):c.1195C>G (p.Pro399Ala)	CTH (P367A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2941	NM_001902.6(CTH):c.1208G>T (p.Ser403Ile)	CTH (S403I +2 more)	Single nucleotide variant (missense variant)	Cystathioninuria +1 more	GBenign/Likely benign
Select item 298041	NM_001902.6(CTH):c.*98G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 875273	NM_001902.6(CTH):c.*217G>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298042	NM_001902.6(CTH):c.*260T>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298043	NM_001902.6(CTH):c.*334T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 875274	NM_001902.6(CTH):c.*336A>G	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298044	NM_001902.6(CTH):c.*370C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298045	NM_001902.6(CTH):c.*371G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298046	NM_001902.6(CTH):c.*389T>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GLikely benign
Select item 876228	NM_001902.6(CTH):c.*411G>C	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876229	NM_001902.6(CTH):c.*513T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876230	NM_001902.6(CTH):c.*522T>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298047	NM_001902.6(CTH):c.522_523insTAA	CTH	Insertion (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298048	NM_001902.6(CTH):c.*523A>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GBenign
Select item 298049	NM_001902.6(CTH):c.*527A>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298050	NM_001902.6(CTH):c.*544G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GBenign
Select item 298051	NM_001902.6(CTH):c.*545C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876361	NM_001902.6(CTH):c.*546G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298052	NM_001902.6(CTH):c.*587G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 876362	NM_001902.6(CTH):c.*588C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298053	NM_001902.6(CTH):c.*592C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GBenign
Select item 298054	NM_001902.6(CTH):c.*630G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298055	NM_001902.6(CTH):c.*631C>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 298056	NM_001902.6(CTH):c.*632G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 874404	NM_001902.6(CTH):c.*681G>A	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 874405	NM_001902.6(CTH):c.*693G>T	CTH	Single nucleotide variant (3 prime UTR variant)	Cystathioninuria	GUncertain significance
Select item 368879	NM_001902.5(CTH):c.*735G>A	CTH	Single nucleotide variant (genic downstream transcript variant)	Cystathioninuria	GLikely benign
Select item 3062844	GRCh37/hg19 1p31.1(chr1:70886158-71330939)x3	CTH, PTGER3	Copy number gain	not specified	GUncertain significance
Select item 1809428	GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1	ANKRD13C, CTH +8 more	Copy number loss	not provided	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 814093	GRCh37/hg19 1p31.1(chr1:70727412-71030414)x4	HHLA3, CTH +1 more	Copy number gain	not provided	GLikely benign
Select item 814092	GRCh37/hg19 1p31.1(chr1:70121864-70894764)x3	HHLA3, LRRC7 +4 more	Copy number gain	not provided	GLikely benign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
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 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
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 565110	GRCh37/hg19 1p31.1(chr1:70885420-71331430)x3	PTGER3, CTH	Copy number gain	not provided	GUncertain significance
Select item 565109	GRCh37/hg19 1p31.1(chr1:70736553-71030414)x3	ANKRD13C, CTH +1 more	Copy number gain	not provided	GLikely benign
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 100