CROT[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 59621	GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3	ABCB4, CROT +30 more	Copy number gain	See cases	GUncertain significance
Select item 2561442	NM_021151.4(CROT):c.35G>A (p.Arg12Gln)	CROT (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533796	NM_021151.4(CROT):c.44A>G (p.Gln15Arg)	CROT (Q15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541904	NM_021151.4(CROT):c.91T>A (p.Ser31Thr)	CROT (S31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773213	NM_021151.4(CROT):c.249G>T (p.Glu83Asp)	CROT (E83D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2329208	NM_021151.4(CROT):c.308T>C (p.Phe103Ser)	CROT (F103S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602683	NM_021151.4(CROT):c.311C>T (p.Ala104Val)	CROT (A132V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360612	NM_021151.4(CROT):c.356G>T (p.Gly119Val)	CROT (G147V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077624	NM_021151.4(CROT):c.367G>A (p.Glu123Lys)	CROT (E151K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407054	NM_021151.4(CROT):c.408G>C (p.Trp136Cys)	CROT (W136C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320198	NM_021151.4(CROT):c.457C>A (p.Pro153Thr)	CROT (P153T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267151	NM_021151.4(CROT):c.640C>A (p.Pro214Thr)	ABCB4, CROT (P214T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538658	NM_021151.4(CROT):c.674A>T (p.His225Leu)	ABCB4, CROT (H253L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369826	NM_021151.4(CROT):c.712G>A (p.Ala238Thr)	ABCB4, CROT (A266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516450	NM_021151.4(CROT):c.755G>A (p.Arg252Gln)	ABCB4, CROT (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327902	NM_021151.4(CROT):c.776A>C (p.Asp259Ala)	ABCB4, CROT (D287A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268768	NM_021151.4(CROT):c.815G>A (p.Ser272Asn)	ABCB4, CROT (S272N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260349	NM_021151.4(CROT):c.920G>A (p.Gly307Asp)	ABCB4, CROT (G307D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	PTTG1IP2, RUNDC3B +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 2333835	NM_021151.4(CROT):c.1021T>C (p.Tyr341His)	ABCB4, CROT (Y341H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507720	NM_021151.4(CROT):c.1027G>A (p.Asp343Asn)	ABCB4, CROT (D371N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280711	NM_021151.4(CROT):c.1037T>G (p.Ile346Ser)	ABCB4, CROT (I346S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721357	NM_021151.4(CROT):c.1063-8A>G	ABCB4, CROT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2399663	NM_021151.4(CROT):c.1112T>C (p.Ile371Thr)	ABCB4, CROT (I371T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3077619	NM_021151.4(CROT):c.1120G>A (p.Glu374Lys)	ABCB4, CROT (E402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409026	NM_021151.4(CROT):c.1240C>A (p.Leu414Ile)	ABCB4, CROT (L414I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406776	NM_021151.4(CROT):c.1352G>A (p.Arg451His)	ABCB4, CROT (R479H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311661	NM_021151.4(CROT):c.1359G>C (p.Glu453Asp)	ABCB4, CROT (E481D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368619	NM_021151.4(CROT):c.1378G>C (p.Val460Leu)	ABCB4, CROT (V460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077620	NM_021151.4(CROT):c.1406T>C (p.Met469Thr)	ABCB4, CROT (M469T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248128	NM_021151.4(CROT):c.1433A>G (p.Glu478Gly)	ABCB4, CROT (E506G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558024	NM_021151.4(CROT):c.1534C>T (p.Leu512Phe)	ABCB4, CROT (L540F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611732	NM_021151.4(CROT):c.1547A>G (p.Glu516Gly)	ABCB4, CROT (E516G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077621	NM_021151.4(CROT):c.1582C>G (p.Pro528Ala)	CROT, ABCB4 (P528A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077622	NM_021151.4(CROT):c.1600G>A (p.Gly534Arg)	ABCB4, CROT (G534R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336571	NM_021151.4(CROT):c.1636G>T (p.Val546Phe)	ABCB4, CROT (V546F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077623	NM_021151.4(CROT):c.1688A>G (p.Tyr563Cys)	ABCB4, CROT (Y591C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 979630	GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3	ABCB4, RUNDC3B +5 more	Copy number gain	not provided	GUncertain significance
Select item 979629	GRCh37/hg19 7q21.12(chr7:86907024-87154688)x1	ABCB1, CROT +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 50