LOC108281165[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 57907	GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3	LOC126861015, LOC129390222 +63 more	Copy number gain	See cases	GUncertain significance
Select item 146346	GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3	ABCC2, BLOC1S2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 57908	GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3	ABCC2, COX15 +14 more	Copy number gain	See cases	GUncertain significance
Select item 3355553	NM_000392.5(ABCC2):c.34-8G>C	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	ABCC2-related disorder	GLikely benign
Select item 708493	NM_000392.5(ABCC2):c.34-8G>A	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2708641	NM_000392.5(ABCC2):c.34-6C>T	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008941	NM_000392.5(ABCC2):c.36T>C (p.Asn12=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 877757	NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu)	LOC108281165, ABCC2 (P19L)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 298439	NM_000392.5(ABCC2):c.57G>A (p.Pro19=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2791742	NM_000392.5(ABCC2):c.66C>T (p.Asp22=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817538	NM_000392.5(ABCC2):c.67C>T (p.Leu23=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004293	NM_000392.5(ABCC2):c.69G>C (p.Leu23=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128077	NM_000392.5(ABCC2):c.88A>T (p.Thr30Ser)	ABCC2, LOC108281165 (T30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2864694	NM_000392.5(ABCC2):c.90T>A (p.Thr30=)	LOC108281165, ABCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 498611	NM_000392.5(ABCC2):c.99G>A (p.Val33=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 298440	NM_000392.5(ABCC2):c.108C>T (p.Pro36=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 3127890	NM_000392.5(ABCC2):c.109T>G (p.Leu37Val)	ABCC2, LOC108281165 (L37V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 802627	NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe)	LOC108281165, ABCC2 (Y39F)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 776535	NM_000392.5(ABCC2):c.116= (p.Tyr39=)	ABCC2, LOC108281165	Variation (no sequence alteration)	not provided	GBenign
Select item 3344491	NM_000392.5(ABCC2):c.133C>T (p.Pro45Ser)	ABCC2, LOC108281165 (P45S)	Single nucleotide variant (missense variant)	ABCC2-related disorder	GUncertain significance
Select item 501858	NM_000392.5(ABCC2):c.136T>C (p.Trp46Arg)	ABCC2, LOC108281165 (W46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289985	NM_000392.5(ABCC2):c.150C>T (p.His50=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3299684	NM_000392.5(ABCC2):c.151G>A (p.Val51Met)	ABCC2, LOC108281165 (V51M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502331	NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter)	ABCC2, LOC108281165 (Y52*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 286427	NM_000392.5(ABCC2):c.159A>G (p.Lys53=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2958335	NM_000392.5(ABCC2):c.162C>G (p.Ser54=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 878785	NM_000392.5(ABCC2):c.169A>C (p.Lys57Gln)	ABCC2, LOC108281165 (K57Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028228	NM_000392.5(ABCC2):c.170A>G (p.Lys57Arg)	ABCC2, LOC108281165 (K57R)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 3018434	NM_000392.5(ABCC2):c.177C>T (p.Ser59=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713464	NM_000392.5(ABCC2):c.189A>G (p.Lys63=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694802	NM_000392.5(ABCC2):c.198T>C (p.Leu66=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640750	NM_000392.5(ABCC2):c.201T>G (p.Ala67=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1085824	NM_000392.5(ABCC2):c.203A>C (p.Lys68Thr)	LOC108281165, ABCC2 (K68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2778323	NM_000392.5(ABCC2):c.205del (p.Gln69fs)	LOC108281165, ABCC2 (Q69fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 593402	NM_000392.5(ABCC2):c.206A>C (p.Gln69Pro)	ABCC2, LOC108281165 (Q69P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595381	NM_000392.5(ABCC2):c.207+1G>A	ABCC2, LOC108281165	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2992546	NM_000392.5(ABCC2):c.207+12A>G	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752358	NM_000392.5(ABCC2):c.207+15A>C	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006297	NM_000392.5(ABCC2):c.207+17T>A	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 41