12630[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	KNOP1, LAT +851 more	Copy number gain	See cases	GPathogenic
Select item 147349	GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3	LOC112486224, LOC112486225 +58 more	Copy number gain	See cases	GUncertain significance
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 151192	GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3	ABAT, CARHSP1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 150852	GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1	ABAT, CARHSP1 +46 more	Copy number loss	See cases	GUncertain significance
Select item 59953	GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3	ABAT, CARHSP1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58248	GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1	ABAT, CARHSP1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 57446	GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1	ABAT, CARHSP1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 59954	GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3	CARHSP1, CARHSP1-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 1675613	NC_000016.10:g.8884346G>A	LITAFD, USP7	Single nucleotide variant	not provided	GLikely benign
Select item 2646184	NM_001395433.1(LITAFD):c.163G>T (p.Val55Leu)	LITAFD, USP7 (V55L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1331543	NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg)	USP7 (L1036R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1801177	NM_003470.3(USP7):c.3278dup (p.Tyr1093Ter)	USP7 (Y1035* +3 more)	Duplication (nonsense +1 more)	not provided	GUncertain significance
Select item 2047666	NM_003470.3(USP7):c.3231A>G (p.Leu1077=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3253552	NM_003470.3(USP7):c.3220C>G (p.Arg1074Gly)	USP7 (R1016G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2085984	NM_003470.3(USP7):c.3203-6C>T	USP7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2873068	NM_003470.3(USP7):c.3203-9C>A	USP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2076797	NM_003470.3(USP7):c.3202+20_3202+21insA	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1971378	NM_003470.3(USP7):c.3202+19_3202+20dup	USP7	Duplication (intron variant)	not provided	GBenign
Select item 1637214	NM_003470.3(USP7):c.3202+20dup	USP7	Duplication (intron variant)	Hao-Fountain syndrome +1 more	GBenign
Select item 2858440	NM_003470.3(USP7):c.3202+20C>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666910	NM_003470.3(USP7):c.3202+19_3202+20del	USP7	Deletion (intron variant)	not provided	GBenign
Select item 1283146	NM_003470.3(USP7):c.3202+20del	USP7	Deletion (intron variant)	not provided	GBenign
Select item 1972155	NM_003470.3(USP7):c.3202+18_3202+19insA	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1971503	NM_003470.3(USP7):c.3202+18_3202+19insG	USP7	Insertion (intron variant)	not provided	GBenign
Select item 1970929	NM_003470.3(USP7):c.3202+17_3202+18insG	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1606155	NM_003470.3(USP7):c.3202+17_3202+18insA	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1976432	NM_003470.3(USP7):c.3202+17C>G	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975068	NM_003470.3(USP7):c.3202+16_3202+17insT	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1973478	NM_003470.3(USP7):c.3202+17C>T	USP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972693	NM_003470.3(USP7):c.3202+17C>A	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971311	NM_003470.3(USP7):c.3202+16_3202+17insG	USP7	Insertion (intron variant)	not provided	GBenign
Select item 1971125	NM_003470.3(USP7):c.3202+16_3202+17insA	USP7	Insertion (intron variant)	not provided	GBenign
Select item 1974464	NM_003470.3(USP7):c.3202+15_3202+16insA	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 1973667	NM_003470.3(USP7):c.3202+16C>G	USP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1972844	NM_003470.3(USP7):c.3202+15_3202+16insG	USP7	Insertion (intron variant)	not provided	GLikely benign
Select item 2777055	NM_003470.3(USP7):c.3202+14_3202+15insG	USP7	Insertion (intron variant)	not provided	GBenign
Select item 1972050	NM_003470.3(USP7):c.3202+13_3202+14insA	USP7	Insertion (intron variant)	not provided	GBenign
Select item 917895	NM_003470.3(USP7):c.3202+1G>T	USP7	Single nucleotide variant (splice donor variant)	Hao-Fountain syndrome	GPathogenic
Select item 1974687	NM_003470.3(USP7):c.3201C>T (p.Pro1067=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2845420	NM_003470.3(USP7):c.3193C>T (p.Pro1065Ser)	USP7 (P1049S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2167276	NM_003470.3(USP7):c.3189T>C (p.Phe1063=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3187845	NM_003470.3(USP7):c.3186C>A (p.Asp1062Glu)	USP7 (D1004E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438496	NM_003470.3(USP7):c.3163G>A (p.Glu1055Lys)	USP7 (E1039K +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 1974929	NM_003470.3(USP7):c.3144C>T (p.His1048=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2581965	NM_003470.3(USP7):c.3125T>C (p.Ile1042Thr)	USP7 (I1026T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896927	NM_003470.3(USP7):c.3112-4T>G	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2040756	NM_003470.3(USP7):c.3112-8del	USP7	Deletion (intron variant)	not provided	GBenign
Select item 2033589	NM_003470.3(USP7):c.3112-17_3112-14del	USP7	Deletion (intron variant)	not provided	GLikely benign
Select item 2116274	NM_003470.3(USP7):c.3112-20T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2068727	NM_003470.3(USP7):c.3111+8G>C	USP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701698	NM_003470.3(USP7):c.3111+8G>T	USP7	Single nucleotide variant (intron variant)	Hao-Fountain syndrome	GUncertain significance
Select item 3236128	NM_003470.3(USP7):c.3111+1G>A	USP7	Single nucleotide variant (splice donor variant)	Hao-Fountain syndrome due to USP7 mutation	GPathogenic
Select item 873486	NM_003470.3(USP7):c.3091C>G (p.Gln1031Glu)	USP7 (Q1031E +3 more)	Single nucleotide variant (missense variant +1 more)	USP7-related neurodevelopmental disorder +1 more	GUncertain significance
Select item 2571683	NM_003470.3(USP7):c.3088A>C (p.Ile1030Leu)	USP7 (I1014L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239572	NM_003470.3(USP7):c.3068G>A (p.Arg1023Gln)	USP7 (R1007Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694787	NM_003470.3(USP7):c.3061A>G (p.Met1021Val)	USP7 (M1005V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2037480	NM_003470.3(USP7):c.3060G>C (p.Val1020=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2577741	NM_003470.3(USP7):c.3058G>T (p.Val1020Leu)	USP7 (V1004L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1321986	NM_003470.3(USP7):c.3052C>T (p.Arg1018Ter)	USP7 (R1002* +3 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 2441899	NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)	USP7 (E1015K +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 1971116	NM_003470.3(USP7):c.3040-14C>T	USP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2121018	NM_003470.3(USP7):c.3040-20C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870808	NM_003470.3(USP7):c.3039+20C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2127797	NM_003470.3(USP7):c.3039+12_3039+19dup	USP7	Duplication (intron variant)	not provided	GLikely benign
Select item 1971569	NM_003470.3(USP7):c.3039+9T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2431918	NM_003470.3(USP7):c.3039+5G>A	USP7	Single nucleotide variant (intron variant)	Hao-Fountain syndrome	GUncertain significance
Select item 1696448	NM_003470.3(USP7):c.3039+3A>G	USP7	Single nucleotide variant (intron variant)	Hao-Fountain syndrome +2 more	GUncertain significance
Select item 2094750	NM_003470.3(USP7):c.3015C>T (p.Ile1005=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2010122	NM_003470.3(USP7):c.2944A>G (p.Ile982Val)	USP7 (I924V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878285	NM_003470.3(USP7):c.2920-3C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021091	NM_003470.3(USP7):c.2920-6C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976054	NM_003470.3(USP7):c.2919+18T>C	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973982	NM_003470.3(USP7):c.2919+17C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771014	NM_003470.3(USP7):c.2907G>A (p.Thr969=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1719511	NM_003470.3(USP7):c.2902C>T (p.Arg968Trp)	USP7 (R869W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315988	NM_003470.3(USP7):c.2896A>G (p.Thr966Ala)	USP7 (T867A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062921	NM_003470.3(USP7):c.2874A>G (p.Leu958=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3252593	NM_003470.3(USP7):c.2858A>G (p.His953Arg)	USP7 (H854R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501594	NM_003470.3(USP7):c.2839T>C (p.Tyr947His)	USP7 (Y848H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504495	NM_003470.3(USP7):c.2837G>C (p.Ser946Thr)	USP7 (S847T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2885847	NM_003470.3(USP7):c.2826A>G (p.Leu942=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867724	NM_003470.3(USP7):c.2820-3C>T	USP7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2027553	NM_003470.3(USP7):c.2820-8C>T	USP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867441	NM_003470.3(USP7):c.2820-12dup	USP7	Duplication (intron variant)	not provided	GLikely benign
Select item 1970997	NM_003470.3(USP7):c.2820-14dup	USP7	Duplication (intron variant)	not provided	GBenign
Select item 1974392	NM_003470.3(USP7):c.2820-14del	USP7	Deletion (intron variant)	not provided	GBenign
Select item 1599578	NM_003470.3(USP7):c.2820-14T>G	USP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2046542	NM_003470.3(USP7):c.2812A>C (p.Lys938Gln)	USP7 (K922Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3336073	NM_003470.3(USP7):c.2807C>T (p.Ser936Leu)	USP7 (S837L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2174282	NM_003470.3(USP7):c.2805A>G (p.Ala935=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2782031	NM_003470.3(USP7):c.2796G>A (p.Gly932=)	USP7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1315828	NM_003470.3(USP7):c.2792T>C (p.Leu931Pro)	USP7 (L832P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1342501	NM_003470.3(USP7):c.2785G>A (p.Val929Met)	USP7 (V830M +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 2575815	NM_003470.3(USP7):c.2758G>C (p.Asp920His)	USP7 (D821H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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