28923[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
Select item 154421	GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	CYTH3, DAGLB +28 more	Copy number loss	See cases	GUncertain significance
Select item 2334886	NM_139179.4(DAGLB):c.2011G>A (p.Val671Met)	DAGLB (V542M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080023	NM_139179.4(DAGLB):c.2003G>A (p.Ser668Asn)	DAGLB (S539N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714345	NM_139179.4(DAGLB):c.1975G>A (p.Val659Ile)	DAGLB (V530I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768140	NM_139179.4(DAGLB):c.1966G>A (p.Ala656Thr)	DAGLB (A527T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238208	NM_139179.4(DAGLB):c.1951G>A (p.Val651Met)	DAGLB (V522M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317877	NM_139179.4(DAGLB):c.1935G>A (p.Met645Ile)	DAGLB (M645I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372216	NM_139179.4(DAGLB):c.1927A>G (p.Ile643Val)	DAGLB (I643V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3080022	NM_139179.4(DAGLB):c.1898C>T (p.Pro633Leu)	DAGLB (P504L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406115	NM_139179.4(DAGLB):c.1897C>G (p.Pro633Ala)	DAGLB (P504A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770735	NM_139179.4(DAGLB):c.1896T>C (p.Gly632=)	DAGLB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2378099	NM_139179.4(DAGLB):c.1879A>T (p.Ser627Cys)	DAGLB (S498C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392033	NM_139179.4(DAGLB):c.1852G>A (p.Ala618Thr)	DAGLB (A489T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080019	NM_139179.4(DAGLB):c.1829G>A (p.Cys610Tyr)	DAGLB (C481Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270834	NM_139179.4(DAGLB):c.1814C>T (p.Ser605Leu)	DAGLB (S605L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771156	NM_139179.4(DAGLB):c.1787T>C (p.Ile596Thr)	DAGLB (I596T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3080018	NM_139179.4(DAGLB):c.1702C>T (p.Arg568Cys)	DAGLB (R568C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471230	NM_139179.4(DAGLB):c.1678C>G (p.Leu560Val)	DAGLB (L431V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080016	NM_139179.4(DAGLB):c.1670A>G (p.Gln557Arg)	DAGLB (Q557R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243619	NM_139179.4(DAGLB):c.1667C>T (p.Thr556Ile)	DAGLB (T427I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469805	NM_139179.4(DAGLB):c.1634C>A (p.Thr545Lys)	DAGLB (T416K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080015	NM_139179.4(DAGLB):c.1623C>A (p.Asn541Lys)	DAGLB (N412K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557972	NM_139179.4(DAGLB):c.1621A>G (p.Asn541Asp)	DAGLB (N541D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384665	NM_139179.4(DAGLB):c.1600G>A (p.Glu534Lys)	DAGLB (E405K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231048	NM_139179.4(DAGLB):c.1588G>A (p.Gly530Ser)	DAGLB (G530S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723916	NM_139179.4(DAGLB):c.1587C>T (p.His529=)	DAGLB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720368	NM_139179.4(DAGLB):c.1570-9C>T	DAGLB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2518012	NM_139179.4(DAGLB):c.1541G>A (p.Arg514Gln)	DAGLB (R385Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317101	NM_139179.4(DAGLB):c.1535T>G (p.Ile512Ser)	DAGLB (I383S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080014	NM_139179.4(DAGLB):c.1519G>T (p.Asp507Tyr)	DAGLB (D378Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507748	NM_139179.4(DAGLB):c.1471G>A (p.Val491Ile)	DAGLB (V491I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516724	NM_139179.4(DAGLB):c.1415G>A (p.Arg472Gln)	DAGLB (R343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513596	NM_139179.4(DAGLB):c.1399G>A (p.Ala467Thr)	DAGLB (A338T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529000	NM_139179.4(DAGLB):c.1382C>T (p.Pro461Leu)	DAGLB (P332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773888	NM_139179.4(DAGLB):c.1351C>T (p.Leu451=)	DAGLB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3270835	NM_139179.4(DAGLB):c.1337G>A (p.Gly446Asp)	DAGLB (G317D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080013	NM_139179.4(DAGLB):c.1307G>A (p.Arg436Gln)	DAGLB (R436Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299678	NM_139179.4(DAGLB):c.1297C>T (p.Pro433Ser)	DAGLB (P433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080012	NM_139179.4(DAGLB):c.1289G>A (p.Ser430Asn)	DAGLB (S301N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270832	NM_139179.4(DAGLB):c.1243G>A (p.Val415Ile)	DAGLB (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270836	NM_139179.4(DAGLB):c.1208T>C (p.Leu403Pro)	DAGLB (L274P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517765	NM_139179.4(DAGLB):c.1199A>T (p.Gln400Leu)	DAGLB (Q400L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270842	NM_139179.4(DAGLB):c.1196T>G (p.Val399Gly)	DAGLB (V399G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216928	NM_139179.4(DAGLB):c.1156C>A (p.Leu386Met)	DAGLB (L386M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270841	NM_139179.4(DAGLB):c.1085T>C (p.Leu362Pro)	DAGLB (L233P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478917	NM_139179.4(DAGLB):c.1073T>G (p.Phe358Cys)	DAGLB (F358C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270833	NM_139179.4(DAGLB):c.970G>A (p.Asp324Asn)	DAGLB (D195N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591518	NM_139179.4(DAGLB):c.970G>T (p.Asp324Tyr)	DAGLB (D195Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268622	NM_139179.4(DAGLB):c.953A>G (p.Tyr318Cys)	DAGLB (Y318C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740250	NM_139179.4(DAGLB):c.834C>T (p.Cys278=)	DAGLB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3080032	NM_139179.4(DAGLB):c.830A>G (p.Asn277Ser)	DAGLB (N277S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593644	NM_139179.4(DAGLB):c.822A>T (p.Glu274Asp)	DAGLB (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462887	NM_139179.4(DAGLB):c.741C>A (p.Asp247Glu)	DAGLB (T161K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2535780	NM_139179.4(DAGLB):c.728A>G (p.His243Arg)	DAGLB (I157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598391	NM_139179.4(DAGLB):c.717C>T (p.Leu239=)	DAGLB (S153L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 720369	NM_139179.4(DAGLB):c.711G>A (p.Ala237=)	DAGLB (R151Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2333946	NM_139179.4(DAGLB):c.682A>G (p.Thr228Ala)	DAGLB (T228A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2488835	NM_139179.4(DAGLB):c.659T>G (p.Leu220Arg)	DAGLB (L220R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080031	NM_139179.4(DAGLB):c.638C>T (p.Ala213Val)	DAGLB (A213V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346843	NM_139179.4(DAGLB):c.634G>C (p.Val212Leu)	DAGLB (V212L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595185	NM_139179.4(DAGLB):c.600G>C (p.Leu200Phe)	DAGLB (L200F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397092	NM_139179.4(DAGLB):c.574G>A (p.Val192Met)	DAGLB (V192M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479467	NM_139179.4(DAGLB):c.560C>A (p.Thr187Lys)	DAGLB (T187K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080030	NM_139179.4(DAGLB):c.532T>C (p.Ser178Pro)	DAGLB (S178P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623065	NM_139179.4(DAGLB):c.505G>C (p.Gly169Arg)	DAGLB (G169R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080028	NM_139179.4(DAGLB):c.469C>G (p.Pro157Ala)	DAGLB (P157A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270837	NM_139179.4(DAGLB):c.452T>C (p.Ile151Thr)	DAGLB (I151T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549773	NM_139179.4(DAGLB):c.437C>G (p.Ala146Gly)	DAGLB (A146G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280482	NM_139179.4(DAGLB):c.434C>T (p.Ala145Val)	DAGLB (A145V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080027	NM_139179.4(DAGLB):c.433G>A (p.Ala145Thr)	DAGLB (A145T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270840	NM_139179.4(DAGLB):c.407C>A (p.Thr136Asn)	DAGLB (T136N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778011	NM_139179.4(DAGLB):c.393C>T (p.Asn131=)	DAGLB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2237041	NM_139179.4(DAGLB):c.391A>T (p.Asn131Tyr)	DAGLB (N131Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080026	NM_139179.4(DAGLB):c.388G>C (p.Val130Leu)	DAGLB (V130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254415	NM_139179.4(DAGLB):c.386T>G (p.Val129Gly)	DAGLB (V129G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480440	NM_139179.4(DAGLB):c.376G>A (p.Asp126Asn)	DAGLB (D126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270839	NM_139179.4(DAGLB):c.319C>T (p.Pro107Ser)	DAGLB (P107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208067	NM_139179.4(DAGLB):c.289C>G (p.Leu97Val)	DAGLB (L97V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080024	NM_139179.4(DAGLB):c.227T>A (p.Ile76Asn)	DAGLB (I76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080021	NM_139179.4(DAGLB):c.187A>G (p.Met63Val)	DAGLB (M63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080011	NM_139179.4(DAGLB):c.119A>G (p.Tyr40Cys)	DAGLB (Y40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080025	NM_139179.4(DAGLB):c.34G>A (p.Ala12Thr)	DAGLB (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080017	NM_139179.4(DAGLB):c.16C>G (p.Leu6Val)	DAGLB (L6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance

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