Related gene-specific medical variations for Gene (Select 54677) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269608	NM_021151.4(CROT):c.1730C>G (p.Ala577Gly)	ABCB4, CROT (A577G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269607	NM_021151.4(CROT):c.983C>G (p.Ala328Gly)	ABCB4, CROT (A328G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269606	NM_021151.4(CROT):c.1661T>C (p.Val554Ala)	ABCB4, CROT (V554A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269605	NM_021151.4(CROT):c.686A>T (p.His229Leu)	ABCB4, CROT (H229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269604	NM_021151.4(CROT):c.1418C>T (p.Ser473Phe)	ABCB4, CROT (S473F +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 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 3077621	NM_021151.4(CROT):c.1582C>G (p.Pro528Ala)	ABCB4, CROT (P528A +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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 721357	NM_021151.4(CROT):c.1063-8A>G	ABCB4, CROT	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Links from Gene

Items: 30