"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABCA12"[g - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 715870	NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile)	ABCA12, SNHG31 (T2544I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3030573	NM_173076.3(ABCA12):c.7404A>G (p.Gln2468=)	SNHG31, ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 2633758	NM_173076.3(ABCA12):c.7333A>G (p.Thr2445Ala)	ABCA12, SNHG31 (T2127A +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder	GUncertain significance
Select item 3044228	NM_173076.3(ABCA12):c.7134C>T (p.His2378=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 262833	NM_173076.3(ABCA12):c.7105-17C>T	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2861	NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)	ABCA12, SNHG31 (D2047N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 2633575	NM_173076.3(ABCA12):c.6934G>C (p.Gly2312Arg)	ABCA12, SNHG31 (G1994R +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder	GUncertain significance
Select item 775183	NM_173076.3(ABCA12):c.6919A>G (p.Ile2307Val)	SNHG31, ABCA12 (I2307V +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 2081557	NM_173076.3(ABCA12):c.6690A>G (p.Thr2230=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 262832	NM_173076.3(ABCA12):c.6648G>T (p.Arg2216Ser)	ABCA12, SNHG31 (R2216S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 2978530	NM_173076.3(ABCA12):c.6564A>C (p.Ala2188=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 775062	NM_173076.3(ABCA12):c.6501C>T (p.Asp2167=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign/Likely benign
Select item 262831	NM_173076.3(ABCA12):c.6306C>T (p.Tyr2102=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 713548	NM_173076.3(ABCA12):c.6208G>A (p.Val2070Ile)	ABCA12, SNHG31 (V2070I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2728966	NM_173076.3(ABCA12):c.6118-6C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	ABCA12-related disorder +1 more	GLikely benign
Select item 334230	NM_173076.3(ABCA12):c.5925C>T (p.Asp1975=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign/Likely benign
Select item 334232	NM_173076.3(ABCA12):c.5619A>T (p.Val1873=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +2 more	GBenign
Select item 2877543	NM_173076.3(ABCA12):c.5571T>A (p.Pro1857=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 262830	NM_173076.3(ABCA12):c.5469-16T>C	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 262829	NM_173076.3(ABCA12):c.5400G>A (p.Thr1800=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 2672859	NM_173076.3(ABCA12):c.5127T>C (p.Asp1709=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +1 more	GLikely benign
Select item 751983	NM_173076.3(ABCA12):c.4914C>T (p.Leu1638=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +1 more	GLikely benign
Select item 334241	NM_173076.3(ABCA12):c.4782C>T (p.Ala1594=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 334242	NM_173076.3(ABCA12):c.4707C>T (p.Gly1569=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 2628525	NM_173076.3(ABCA12):c.4697A>G (p.Glu1566Gly)	ABCA12 (E1248G +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder	GUncertain significance
Select item 2715596	NM_173076.3(ABCA12):c.4689C>T (p.Tyr1563=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 754377	NM_173076.3(ABCA12):c.4614C>T (p.Asp1538=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +1 more	GBenign/Likely benign
Select item 2075200	NM_173076.3(ABCA12):c.4579+8T>G	ABCA12	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3041642	NM_173076.3(ABCA12):c.4579+4T>G	ABCA12	Single nucleotide variant (intron variant)	ABCA12-related disorder	GLikely benign
Select item 2857	NM_173076.3(ABCA12):c.4541G>A (p.Arg1514His)	ABCA12 (R1514H +1 more)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder	GLikely pathogenic
Select item 334243	NM_173076.3(ABCA12):c.4533A>G (p.Pro1511=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 262828	NM_173076.3(ABCA12):c.4163+20T>C	ABCA12	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 262827	NM_173076.3(ABCA12):c.4126T>C (p.Leu1376=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 2719213	NM_173076.3(ABCA12):c.4065T>C (p.Tyr1355=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +1 more	GBenign/Likely benign
Select item 262826	NM_173076.3(ABCA12):c.3726G>A (p.Pro1242=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 624176	NM_173076.3(ABCA12):c.3481A>T (p.Met1161Leu)	ABCA12 (M1161L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign/Likely benign
Select item 722101	NM_173076.3(ABCA12):c.3360A>G (p.Gly1120=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3047391	NM_173076.3(ABCA12):c.3294+4T>C	ABCA12	Single nucleotide variant (intron variant)	ABCA12-related disorder	GLikely benign
Select item 334251	NM_173076.3(ABCA12):c.3276A>G (p.Lys1092=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 262825	NM_173076.3(ABCA12):c.3033A>G (p.Pro1011=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 334254	NM_173076.3(ABCA12):c.2868T>G (p.Val956=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 733624	NM_173076.3(ABCA12):c.2742A>G (p.Leu914=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3029220	NM_173076.3(ABCA12):c.2445C>T (p.Asn815=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 262824	NM_173076.3(ABCA12):c.2329T>A (p.Ser777Thr)	ABCA12 (S777T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +4 more	GBenign
Select item 334255	NM_173076.3(ABCA12):c.2295G>A (p.Glu765=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 713057	NM_173076.3(ABCA12):c.2209G>A (p.Glu737Lys)	ABCA12 (E419K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2902851	NM_173076.3(ABCA12):c.2139C>T (p.Asn713=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 262823	NM_173076.3(ABCA12):c.2124A>G (p.Ala708=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 262822	NM_173076.3(ABCA12):c.1892G>A (p.Arg631Gln)	ABCA12 (R631Q +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 3060383	NM_173076.3(ABCA12):c.1842A>G (p.Leu614=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 262821	NM_173076.3(ABCA12):c.1765C>A (p.Pro589Thr)	ABCA12 (P589T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 334261	NM_173076.3(ABCA12):c.1743C>G (p.Asp581Glu)	ABCA12 (D581E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2884680	NM_173076.3(ABCA12):c.1422C>T (p.Leu474=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder +1 more	GLikely benign
Select item 895276	NM_173076.3(ABCA12):c.1411C>T (p.Leu471=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334269	NM_173076.3(ABCA12):c.1287+9T>C	ABCA12	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 624177	NM_173076.3(ABCA12):c.1222T>C (p.Ser408Pro)	ABCA12 (S408P +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign/Likely benign
Select item 3058322	NM_173076.3(ABCA12):c.1179A>G (p.Pro393=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	ABCA12-related disorder	GLikely benign
Select item 444550	NM_173076.3(ABCA12):c.1141G>C (p.Val381Leu)	ABCA12 (V381L +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +2 more	GConflicting classifications of pathogenicity
Select item 721934	NM_173076.3(ABCA12):c.1062-8T>A	ABCA12	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2912450	NM_173076.3(ABCA12):c.993C>T (p.Ser331=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 262834	NM_173076.3(ABCA12):c.888G>A (p.Val296=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +2 more	GBenign
Select item 235587	NM_173076.3(ABCA12):c.485C>T (p.Ala162Val)	ABCA12 (A162V)	Single nucleotide variant (missense variant +1 more)	ABCA12-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2892652	NM_173076.3(ABCA12):c.450C>T (p.Pro150=)	ABCA12	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2631006	NM_173076.3(ABCA12):c.163+5G>A	ABCA12	Single nucleotide variant (intron variant)	ABCA12-related disorder	GUncertain significance

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Items: 64