Related gene-specific medical variations for Gene (Select 26154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237413	NM_173076.3(ABCA12):c.3306G>A (p.Met1102Ile)	ABCA12 (M1102I +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
Select item 3084598	NM_173076.3(ABCA12):c.6713G>A (p.Arg2238Gln)	ABCA12, SNHG31 (R2238Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084404	NM_173076.3(ABCA12):c.6392C>T (p.Pro2131Leu)	SNHG31, ABCA12 (P2131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3084174	NM_173076.3(ABCA12):c.5894T>C (p.Met1965Thr)	ABCA12, SNHG31 (M1965T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 3023900	NM_173076.3(ABCA12):c.7176T>C (p.Tyr2392=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023711	NM_173076.3(ABCA12):c.6853-8C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023189	NM_173076.3(ABCA12):c.5885-14G>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022239	NM_173076.3(ABCA12):c.6394-10C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021261	NM_173076.3(ABCA12):c.7543-17T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020106	NM_173076.3(ABCA12):c.7240-23_7240-20dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GBenign
Select item 3019183	NM_173076.3(ABCA12):c.7065T>C (p.Tyr2355=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019077	NM_173076.3(ABCA12):c.7248G>A (p.Pro2416=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3016054	NM_173076.3(ABCA12):c.7443A>C (p.Gly2481=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015865	NM_173076.3(ABCA12):c.6390T>C (p.Asp2130=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013194	NM_173076.3(ABCA12):c.6534T>C (p.Asn2178=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012906	NM_173076.3(ABCA12):c.6471T>A (p.Ile2157=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012767	NM_173076.3(ABCA12):c.5940-6C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009945	NM_173076.3(ABCA12):c.7343+15A>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009494	NM_173076.3(ABCA12):c.6118-11T>C	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009181	NM_173076.3(ABCA12):c.6081G>C (p.Val2027=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008282	NM_173076.3(ABCA12):c.6591C>T (p.Gly2197=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007494	NM_173076.3(ABCA12):c.6744A>C (p.Ala2248=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006829	NM_173076.3(ABCA12):c.6708T>C (p.Asp2236=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006566	NM_173076.3(ABCA12):c.5940-13T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001783	NM_173076.3(ABCA12):c.7344-16C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000940	NM_173076.3(ABCA12):c.7436+17T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000222	NM_173076.3(ABCA12):c.7105-23_7105-17dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GLikely benign
Select item 3000047	NM_173076.3(ABCA12):c.6610C>A (p.Arg2204=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999435	NM_173076.3(ABCA12):c.7750A>C (p.Ile2584Leu)	ABCA12, SNHG31 (I2266L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2998222	NM_173076.3(ABCA12):c.6117+14G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996632	NM_173076.3(ABCA12):c.6962+15T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996089	NM_173076.3(ABCA12):c.5885-19_5885-17del	ABCA12, SNHG31	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2995658	NM_173076.3(ABCA12):c.6648-12G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995462	NM_173076.3(ABCA12):c.7314C>T (p.Asn2438=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994985	NM_173076.3(ABCA12):c.6853-15dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GBenign
Select item 2994382	NM_173076.3(ABCA12):c.7107T>C (p.Thr2369=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993478	NM_173076.3(ABCA12):c.6732T>G (p.Val2244=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991502	NM_173076.3(ABCA12):c.7375T>C (p.Leu2459=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990856	NM_173076.3(ABCA12):c.6960C>T (p.Thr2320=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990347	NM_173076.3(ABCA12):c.6132G>A (p.Val2044=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2988864	NM_173076.3(ABCA12):c.7077T>C (p.His2359=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987091	NM_173076.3(ABCA12):c.7659G>C (p.Val2553=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2985067	NM_173076.3(ABCA12):c.7272G>A (p.Ser2424=)	ABCA12, SNHG31	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2983646	NM_173076.3(ABCA12):c.6618A>G (p.Leu2206=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2983412	NM_173076.3(ABCA12):c.7680+13C>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982221	NM_173076.3(ABCA12):c.7240-17T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981844	NM_173076.3(ABCA12):c.7563A>G (p.Leu2521=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981071	NM_173076.3(ABCA12):c.6960C>A (p.Thr2320=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979347	NM_173076.3(ABCA12):c.6357G>C (p.Val2119=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2977629	NM_173076.3(ABCA12):c.6861G>A (p.Gly2287=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975959	NM_173076.3(ABCA12):c.7542+20T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975192	NM_173076.3(ABCA12):c.7436+20C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973728	NM_173076.3(ABCA12):c.6210A>G (p.Val2070=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972632	NM_173076.3(ABCA12):c.5973G>A (p.Leu1991=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967451	NM_173076.3(ABCA12):c.7240-6A>G	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967366	NM_173076.3(ABCA12):c.6201A>C (p.Leu2067=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967312	NM_173076.3(ABCA12):c.6647+17C>T	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965220	NM_173076.3(ABCA12):c.6447A>T (p.Gln2149His)	ABCA12, SNHG31 (Q1831H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964704	NM_173076.3(ABCA12):c.7680+16C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964075	NM_173076.3(ABCA12):c.6003C>T (p.Thr2001=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2962494	NM_173076.3(ABCA12):c.5927A>T (p.Gln1976Leu)	ABCA12, SNHG31 (Q1976L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2960932	NM_173076.3(ABCA12):c.6942T>C (p.Ile2314=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959905	NM_173076.3(ABCA12):c.6118-20T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959898	NM_173076.3(ABCA12):c.7668C>A (p.Thr2556=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958364	NM_173076.3(ABCA12):c.7437-8C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957360	NM_173076.3(ABCA12):c.5939+20A>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956315	NM_173076.3(ABCA12):c.7742G>T (p.Gly2581Val)	SNHG31, ABCA12 (G2263V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2956059	NM_173076.3(ABCA12):c.6962+12T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955664	NM_173076.3(ABCA12):c.6720G>A (p.Glu2240=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2920264	NM_173076.3(ABCA12):c.7566G>A (p.Glu2522=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2914660	NM_173076.3(ABCA12):c.7750A>G (p.Ile2584Val)	ABCA12, SNHG31 (I2266V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2913472	NM_173076.3(ABCA12):c.7681-5dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GBenign
Select item 2910155	NM_173076.3(ABCA12):c.6394-2A>G	ABCA12, SNHG31	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2907025	NM_173076.3(ABCA12):c.5955C>T (p.Ile1985=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907001	NM_173076.3(ABCA12):c.6015C>G (p.Val2005=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906003	NM_173076.3(ABCA12):c.5885-9G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905319	NM_173076.3(ABCA12):c.6234-6del	ABCA12, SNHG31	Deletion (intron variant)	not provided	GLikely benign
Select item 2904014	NM_173076.3(ABCA12):c.7473G>A (p.Lys2491=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900988	NM_173076.3(ABCA12):c.6852+9C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898242	NM_173076.3(ABCA12):c.6486A>G (p.Gln2162=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898241	NM_173076.3(ABCA12):c.6492G>A (p.Ser2164=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898166	NM_173076.3(ABCA12):c.7581C>T (p.Val2527=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2896067	NM_173076.3(ABCA12):c.7113T>C (p.His2371=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2893103	NM_173076.3(ABCA12):c.7680+8A>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890628	NM_173076.3(ABCA12):c.6515A>T (p.Tyr2172Phe)	ABCA12, SNHG31 (Y2172F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2890608	NM_173076.3(ABCA12):c.6078C>T (p.Gly2026=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2890035	NM_173076.3(ABCA12):c.6012T>C (p.Phe2004=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2889567	NM_173076.3(ABCA12):c.6504C>T (p.Phe2168=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2888944	NM_173076.3(ABCA12):c.7269G>A (p.Lys2423=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2888572	NM_173076.3(ABCA12):c.6543T>C (p.Phe2181=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885013	NM_173076.3(ABCA12):c.7515G>A (p.Gln2505=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2880489	NM_173076.3(ABCA12):c.6117+13T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879521	NM_173076.3(ABCA12):c.7749T>C (p.Thr2583=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878041	NM_173076.3(ABCA12):c.7572T>C (p.His2524=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877958	NM_173076.3(ABCA12):c.6394-10C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877513	NM_173076.3(ABCA12):c.7236G>T (p.Leu2412=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876505	NM_173076.3(ABCA12):c.7542+13G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign

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