14637[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57418	GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3	ABCA12, ATIC +36 more	Copy number gain	See cases	GUncertain significance
Select item 58935	GRCh38/hg38 2q34-35(chr2:214076320-215057802)x3	ABCA12, BARD1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 145317	GRCh38/hg38 2q35(chr2:214785851-215383000)x3	ABCA12, ATIC +11 more	Copy number gain	See cases	GUncertain significance
Select item 58936	GRCh38/hg38 2q35(chr2:214814200-215197772)x3	ABCA12, LOC129388992 +2 more	Copy number gain	See cases	GUncertain significance
Select item 334204	NM_173076.3(ABCA12):c.1052_1055dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GBenign
Select item 899134	NM_173076.3(ABCA12):c.*908G>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334205	NM_173076.3(ABCA12):c.*881T>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GBenign
Select item 334206	NM_173076.3(ABCA12):c.*844C>T	SNHG31, ABCA12	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334207	NM_173076.3(ABCA12):c.*810A>G	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334208	NM_173076.3(ABCA12):c.*790A>G	SNHG31, ABCA12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 895013	NM_173076.3(ABCA12):c.*732G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895014	NM_173076.3(ABCA12):c.*724G>A	SNHG31, ABCA12	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334209	NM_173076.3(ABCA12):c.*720G>C	SNHG31, ABCA12	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895015	NM_173076.3(ABCA12):c.*713T>G	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334210	NM_173076.3(ABCA12):c.*664C>G	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 895016	NM_173076.3(ABCA12):c.*574C>T	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334211	NM_173076.3(ABCA12):c.*552G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334212	NM_173076.3(ABCA12):c.*539dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GLikely benign
Select item 334213	NM_173076.3(ABCA12):c.522_524dup	ABCA12, SNHG31	Duplication (3 prime UTR variant +1 more)	Congenital ichthyosiform erythroderma	GUncertain significance
Select item 334214	NM_173076.3(ABCA12):c.*485T>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GBenign
Select item 896454	NM_173076.3(ABCA12):c.*465G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334215	NM_173076.3(ABCA12):c.*396C>T	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896455	NM_173076.3(ABCA12):c.*378G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334216	NM_173076.3(ABCA12):c.*378G>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896456	NM_173076.3(ABCA12):c.*365G>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 896457	NM_173076.3(ABCA12):c.*344T>C	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334217	NM_173076.3(ABCA12):c.*310A>G	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GBenign
Select item 898077	NM_173076.3(ABCA12):c.*275C>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
Select item 334218	NM_173076.3(ABCA12):c.*26G>A	ABCA12, SNHG31	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive congenital ichthyosis 4A +3 more	GBenign
Select item 2786980	NM_173076.3(ABCA12):c.7788A>G (p.Ter2596=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 419174	NM_173076.3(ABCA12):c.7781_7782del (p.Glu2594fs)	ABCA12, SNHG31 (E2594fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2260784	NM_173076.3(ABCA12):c.7780G>A (p.Glu2594Lys)	ABCA12, SNHG31 (E2276K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2956315	NM_173076.3(ABCA12):c.7742G>T (p.Gly2581Val)	ABCA12, SNHG31 (G2263V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2722950	NM_173076.3(ABCA12):c.7731C>T (p.Thr2577=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 931786	NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys)	ABCA12, SNHG31 (Y2254C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2913472	NM_173076.3(ABCA12):c.7681-5dup	ABCA12, SNHG31	Duplication (intron variant)	not provided	GBenign
Select item 2713889	NM_173076.3(ABCA12):c.7681-4T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228308	NM_173076.3(ABCA12):c.7681-68_7681-67del	ABCA12, SNHG31	Deletion (intron variant)	not provided	GBenign
Select item 1267653	NM_173076.3(ABCA12):c.7680+78T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964704	NM_173076.3(ABCA12):c.7680+16C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785808	NM_173076.3(ABCA12):c.7680+14C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983412	NM_173076.3(ABCA12):c.7680+13C>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872961	NM_173076.3(ABCA12):c.7680+13C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893103	NM_173076.3(ABCA12):c.7680+8A>G	SNHG31, ABCA12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3339433	NM_173076.3(ABCA12):c.7680+5G>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 633802	NM_173076.3(ABCA12):c.7673T>C (p.Leu2558Pro)	ABCA12, SNHG31 (L2558P +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 4B	GUncertain significance
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 2875381	NM_173076.3(ABCA12):c.7662T>C (p.Ser2554=)	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 2797981	NM_173076.3(ABCA12):c.7659G>A (p.Val2553=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2703556	NM_173076.3(ABCA12):c.7650T>C (p.Asn2550=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715870	NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile)	ABCA12, SNHG31 (T2544I +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 2823187	NM_173076.3(ABCA12):c.7605T>A (p.Ile2535=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409716	NM_173076.3(ABCA12):c.7598C>A (p.Ala2533Glu)	ABCA12, SNHG31 (A2533E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 334219	NM_173076.3(ABCA12):c.7597G>A (p.Ala2533Thr)	ABCA12, SNHG31 (A2533T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 755494	NM_173076.3(ABCA12):c.7596C>T (p.Val2532=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 2867049	NM_173076.3(ABCA12):c.7593A>C (p.Gly2531=)	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 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 2920264	NM_173076.3(ABCA12):c.7566G>A (p.Glu2522=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 2825769	NM_173076.3(ABCA12):c.7543-15C>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 2830458	NM_173076.3(ABCA12):c.7543-17del	ABCA12, SNHG31	Deletion (intron variant)	not provided	GBenign
Select item 2808872	NM_173076.3(ABCA12):c.7543-19T>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766747	NM_173076.3(ABCA12):c.7543-20T>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	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 2771205	NM_173076.3(ABCA12):c.7542+19G>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812223	NM_173076.3(ABCA12):c.7542+16T>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	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
Select item 2746050	NM_173076.3(ABCA12):c.7542+7G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860532	NM_173076.3(ABCA12):c.7542+1G>A	ABCA12, SNHG31	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 334220	NM_173076.3(ABCA12):c.7496C>A (p.Thr2499Asn)	ABCA12, SNHG31 (T2499N +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital ichthyosis of skin	GUncertain significance
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 334221	NM_173076.3(ABCA12):c.7468T>C (p.Leu2490=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 2521961	NM_173076.3(ABCA12):c.7462G>A (p.Val2488Ile)	ABCA12, SNHG31 (V2170I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2771559	NM_173076.3(ABCA12):c.7455T>C (p.Thr2485=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 419453	NM_173076.3(ABCA12):c.7444C>T (p.Arg2482Ter)	ABCA12, SNHG31 (R2482* +1 more)	Single nucleotide variant (nonsense +1 more)	Lamellar ichthyosis +2 more	GPathogenic
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 2788671	NM_173076.3(ABCA12):c.7443A>T (p.Gly2481=)	ABCA12, SNHG31	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833092	NM_173076.3(ABCA12):c.7437-7T>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	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 2975192	NM_173076.3(ABCA12):c.7436+20C>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 334222	NM_173076.3(ABCA12):c.7436+15C>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	Congenital ichthyosis of skin +1 more	GConflicting classifications of pathogenicity
Select item 2870840	NM_173076.3(ABCA12):c.7436+14G>T	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840216	NM_173076.3(ABCA12):c.7436+14G>A	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752364	NM_173076.3(ABCA12):c.7436+14G>C	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763534	NM_173076.3(ABCA12):c.7436+9C>G	ABCA12, SNHG31	Single nucleotide variant (intron variant)	not provided	GLikely benign

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