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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611732	NM_021151.4(CROT):c.1547A>G (p.Glu516Gly)	ABCB4, CROT (E516G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558024	NM_021151.4(CROT):c.1534C>T (p.Leu512Phe)	ABCB4, CROT (L540F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538658	NM_021151.4(CROT):c.674A>T (p.His225Leu)	ABCB4, CROT (H253L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516450	NM_021151.4(CROT):c.755G>A (p.Arg252Gln)	ABCB4, CROT (R280Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507720	NM_021151.4(CROT):c.1027G>A (p.Asp343Asn)	ABCB4, CROT (D371N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409026	NM_021151.4(CROT):c.1240C>A (p.Leu414Ile)	CROT, ABCB4 (L414I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406776	NM_021151.4(CROT):c.1352G>A (p.Arg451His)	CROT, ABCB4 (R479H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399663	NM_021151.4(CROT):c.1112T>C (p.Ile371Thr)	CROT, ABCB4 (I371T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2369826	NM_021151.4(CROT):c.712G>A (p.Ala238Thr)	CROT, ABCB4 (A266T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368619	NM_021151.4(CROT):c.1378G>C (p.Val460Leu)	ABCB4, CROT (V460L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336571	NM_021151.4(CROT):c.1636G>T (p.Val546Phe)	CROT, ABCB4 (V546F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333835	NM_021151.4(CROT):c.1021T>C (p.Tyr341His)	ABCB4, CROT (Y341H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327902	NM_021151.4(CROT):c.776A>C (p.Asp259Ala)	CROT, ABCB4 (D287A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311661	NM_021151.4(CROT):c.1359G>C (p.Glu453Asp)	CROT, ABCB4 (E481D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280711	NM_021151.4(CROT):c.1037T>G (p.Ile346Ser)	CROT, ABCB4 (I346S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268768	NM_021151.4(CROT):c.815G>A (p.Ser272Asn)	CROT, ABCB4 (S272N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267151	NM_021151.4(CROT):c.640C>A (p.Pro214Thr)	ABCB4, CROT (P214T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260349	NM_021151.4(CROT):c.920G>A (p.Gly307Asp)	CROT, ABCB4 (G307D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248128	NM_021151.4(CROT):c.1433A>G (p.Glu478Gly)	CROT, ABCB4 (E506G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721357	NM_021151.4(CROT):c.1063-8A>G	ABCB4, CROT	Single nucleotide variant (intron variant)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20