"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCB1"[ge - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053022	NM_001348946.2(ABCB1):c.3768G>A (p.Thr1256=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 747040	NM_001348946.2(ABCB1):c.3747C>G (p.Gly1249=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder +1 more	GLikely benign
Select item 225939	NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)	ABCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3038471	NM_001348946.2(ABCB1):c.3421T>A (p.Ser1141Thr)	ABCB1 (S1141T +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GLikely benign
Select item 781911	NM_001348946.2(ABCB1):c.3396C>T (p.Ala1132=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder +1 more	GBenign/Likely benign
Select item 3057234	NM_001348946.2(ABCB1):c.2786+9C>T	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 166622	NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala)	ABCB1 (S893A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 166619	NM_001348946.2(ABCB1):c.2677T>A (p.Ser893Thr)	ABCB1 (S893T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3045734	NM_001348946.2(ABCB1):c.2397+8T>A	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 754649	NM_001348946.2(ABCB1):c.2106G>A (p.Lys702=)	ABCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3039097	NM_001348946.2(ABCB1):c.1984C>T (p.Leu662=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 3048470	NM_001348946.2(ABCB1):c.1887+4T>G	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 194187	NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=)	ABCB1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 194008	NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn)	ABCB1 (S400N +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder +1 more	GBenign/Likely benign
Select item 736117	NM_001348946.2(ABCB1):c.738G>A (p.Ala246=)	ABCB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3048808	NM_001348946.2(ABCB1):c.702+9A>T	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 3040400	NM_001348946.2(ABCB1):c.612T>C (p.Phe204=)	ABCB1	Single nucleotide variant (synonymous variant)	ABCB1-related disorder	GLikely benign
Select item 828615	NM_001348946.2(ABCB1):c.521G>A (p.Arg174Gln)	ABCB1 (R174Q +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GUncertain significance
Select item 3057401	NM_001348946.2(ABCB1):c.338+5T>C	ABCB1	Single nucleotide variant (intron variant)	ABCB1-related disorder	GLikely benign
Select item 829327	NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp)	ABCB1, LOC126860097 (N21D +1 more)	Single nucleotide variant (missense variant)	ABCB1-related disorder	GLikely benign
Select item 3059856	NM_001348946.2(ABCB1):c.-43A>G	ABCB1	Single nucleotide variant (5 prime UTR variant +1 more)	ABCB1-related disorder	GBenign
Select item 3043940	NM_001348945.2(ABCB1):c.117G>A (p.Pro39=)	ABCB1	Single nucleotide variant (5 prime UTR variant +1 more)	ABCB1-related disorder	GLikely benign

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Items: 22