ClinVar for Gene (Select 847) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358173	NM_001752.4(CAT):c.1494C>T (p.Asp498=)	CAT	Single nucleotide variant (synonymous variant)	CAT-related disorder	GLikely benign
Select item 3137741	NM_001752.4(CAT):c.1052T>C (p.Leu351Pro)	CAT (L351P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684639	GRCh37/hg19 11p13(chr11:34251536-34618202)x3	ABTB2, CAT +1 more	Copy number gain	not provided	GUncertain significance
Select item 2550790	NM_001752.4(CAT):c.895C>T (p.Leu299Phe)	CAT (L299F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531436	NM_001752.4(CAT):c.1355A>G (p.Asn452Ser)	CAT (N452S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473522	NM_001752.4(CAT):c.647G>T (p.Gly216Val)	CAT (G216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2438860	NM_001752.4(CAT):c.1056+1G>C	CAT	Single nucleotide variant (splice donor variant)	Acatalasia	GLikely pathogenic
Select item 2384890	NM_001752.4(CAT):c.1397A>C (p.His466Pro)	CAT (H466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332126	NM_001752.4(CAT):c.1176G>A (p.Met392Ile)	CAT (M392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293143	NM_001752.4(CAT):c.530A>C (p.Lys177Thr)	CAT (K177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259442	NM_001752.4(CAT):c.1348G>A (p.Val450Met)	CAT (V450M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251187	NM_001752.4(CAT):c.997G>A (p.Ala333Thr)	CAT (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215761	NM_001752.4(CAT):c.1271A>G (p.Gln424Arg)	CAT (Q424R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1692993	NC_000011.10:g.34438684C>G	CAT	Single nucleotide variant	Acatalasia	GUncertain significance
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 1170467	NM_001752.4(CAT):c.1169G>A (p.Gly390Asp)	CAT (G390D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1050502	NM_001752.4(CAT):c.1518+6C>G	CAT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1033865	NM_001752.4(CAT):c.1057-2A>G	CAT	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815425	GRCh37/hg19 11p13(chr11:33221821-34569417)x1	ELF5, FBXO3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 788250	NM_001752.4(CAT):c.1317C>T (p.Asn439=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786782	NM_001752.4(CAT):c.625C>T (p.His209Tyr)	CAT (H209Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 785721	NM_001752.4(CAT):c.1467C>T (p.Tyr489=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785345	NM_001752.4(CAT):c.1476C>T (p.His492=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782213	NM_001752.4(CAT):c.327C>T (p.Ile109=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781676	NM_001752.4(CAT):c.1560G>A (p.Ala520=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773245	NM_001752.4(CAT):c.903+5G>T	CAT	Single nucleotide variant (intron variant)	Acatalasia +1 more	GConflicting classifications of pathogenicity
Select item 768441	NM_001752.4(CAT):c.349+4A>T	CAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 747845	NM_001752.4(CAT):c.624A>T (p.Gly208=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737953	NM_001752.4(CAT):c.1057-5T>C	CAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727549	NM_001752.4(CAT):c.871A>G (p.Thr291Ala)	CAT (T291A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725862	NM_001752.4(CAT):c.282C>T (p.Tyr94=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725235	NM_001752.4(CAT):c.1251T>C (p.Ser417=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719479	NM_001752.4(CAT):c.726C>A (p.Ile242=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716541	NM_001752.4(CAT):c.565C>T (p.Arg189Cys)	CAT (R189C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716208	NM_001752.4(CAT):c.555C>T (p.Phe185=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714498	NM_001752.4(CAT):c.1478T>C (p.Ile493Thr)	CAT (I493T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 712315	NM_001752.4(CAT):c.239-5G>A	CAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707827	NM_001752.4(CAT):c.526C>A (p.Leu176Met)	CAT (L176M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 559063	NM_001752.4(CAT):c.*5G>C	CAT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 559062	NM_001752.4(CAT):c.1255C>T (p.Leu419=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559061	NM_001752.4(CAT):c.1167C>T (p.Asp389=)	CAT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559060	NM_001752.4(CAT):c.-20T>C	CAT, LOC130005543	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 29622	NM_001752.4(CAT):c.203_204dup (p.Ile69fs)	CAT (I69fs)	Microsatellite (frameshift variant)	Acatalasia	GPathogenic
Select item 29621	NM_001752.4(CAT):c.358del (p.Ser120fs)	CAT (S120fs)	Deletion (frameshift variant)	Acatalasemia, japanese type	GPathogenic
Select item 17599	NM_001752.4(CAT):c.480+5G>A	CAT	Single nucleotide variant (intron variant)	Acatalasemia, japanese type	GPathogenic

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Links from Gene

Items: 64