7043[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 2364563	NM_001365693.1(MGAM):c.29C>G (p.Thr10Ser)	MGAM (T10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658097	NM_001365693.1(MGAM):c.83T>C (p.Ile28Thr)	MGAM (I28T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250575	NM_001365693.1(MGAM):c.127+5G>T	MGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2621657	NM_001365693.1(MGAM):c.194C>G (p.Thr65Ser)	MGAM (T65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485937	NM_001365693.1(MGAM):c.199A>G (p.Thr67Ala)	MGAM (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388184	NM_001365693.1(MGAM):c.205C>A (p.His69Asn)	MGAM (H69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125863	NM_001365693.1(MGAM):c.230A>G (p.Asp77Gly)	MGAM (D77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307150	NM_001365693.1(MGAM):c.244G>C (p.Gly82Arg)	MGAM (G82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519677	NM_001365693.1(MGAM):c.257T>C (p.Val86Ala)	MGAM (V86A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285015	NM_001365693.1(MGAM):c.317C>A (p.Pro106Gln)	MGAM (P106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125874	NM_001365693.1(MGAM):c.343C>T (p.Arg115Cys)	MGAM (R115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051287	NM_001365693.1(MGAM):c.460C>T (p.Arg154Trp)	MGAM (R154W)	Single nucleotide variant (missense variant)	MGAM-related disorder	GLikely benign
Select item 3294582	NM_001365693.1(MGAM):c.485C>G (p.Pro162Arg)	MGAM (P162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125888	NM_001365693.1(MGAM):c.500A>G (p.Asn167Ser)	MGAM (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523206	NM_001365693.1(MGAM):c.545G>A (p.Arg182His)	MGAM (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247289	NM_001365693.1(MGAM):c.598G>A (p.Glu200Lys)	MGAM (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287857	NM_001365693.1(MGAM):c.655A>C (p.Ile219Leu)	MGAM (I219L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373533	NM_001365693.1(MGAM):c.704G>A (p.Arg235His)	MGAM (R235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568658	NM_001365693.1(MGAM):c.747C>A (p.Asp249Glu)	MGAM (D249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507783	NM_001365693.1(MGAM):c.750G>C (p.Gln250His)	MGAM (Q250H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125892	NM_001365693.1(MGAM):c.824G>C (p.Arg275Pro)	MGAM (R275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616257	NM_001365693.1(MGAM):c.875C>T (p.Pro292Leu)	MGAM (P292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294576	NM_001365693.1(MGAM):c.878A>G (p.Asn293Ser)	MGAM (N293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324484	NM_001365693.1(MGAM):c.981G>A (p.Met327Ile)	MGAM (M327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528636	NM_001365693.1(MGAM):c.1018C>T (p.Arg340Cys)	MGAM (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125852	NM_001365693.1(MGAM):c.1024A>G (p.Ile342Val)	MGAM (I342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125853	NM_001365693.1(MGAM):c.1043T>C (p.Phe348Ser)	MGAM (F348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483168	NM_001365693.1(MGAM):c.1162G>A (p.Gly388Arg)	MGAM (G388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038431	NM_001365693.1(MGAM):c.1171G>A (p.Asp391Asn)	MGAM (D391N)	Single nucleotide variant (missense variant)	MGAM-related disorder	GLikely benign
Select item 3050932	NM_001365693.1(MGAM):c.1175A>G (p.Asn392Ser)	MGAM (N392S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125854	NM_001365693.1(MGAM):c.1189G>A (p.Val397Met)	MGAM (V397M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034462	NM_001365693.1(MGAM):c.1201C>T (p.Arg401Cys)	MGAM (R401C)	Single nucleotide variant (missense variant)	MGAM-related disorder	GLikely benign
Select item 2623469	NM_001365693.1(MGAM):c.1276G>A (p.Asp426Asn)	MGAM (D426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125855	NM_001365693.1(MGAM):c.1312A>G (p.Asn438Asp)	MGAM (N438D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294585	NM_001365693.1(MGAM):c.1325A>G (p.Asn442Ser)	MGAM (N442S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125856	NM_001365693.1(MGAM):c.1339C>G (p.Leu447Val)	MGAM (L447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206991	NM_001365693.1(MGAM):c.1371C>G (p.Asn457Lys)	MGAM (N457K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594824	NM_001365693.1(MGAM):c.1594G>A (p.Glu532Lys)	MGAM (E532K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592764	NM_001365693.1(MGAM):c.1702C>G (p.Leu568Val)	MGAM (L568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658098	NM_001365693.1(MGAM):c.1776C>T (p.Val592=)	MGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221405	NM_001365693.1(MGAM):c.1777G>A (p.Ala593Thr)	MGAM (A593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205149	NM_001365693.1(MGAM):c.1796A>G (p.Lys599Arg)	MGAM (K599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2628954	NM_001365693.1(MGAM):c.1826T>G (p.Ile609Ser)	MGAM (I609S)	Single nucleotide variant (missense variant)	MGAM-related disorder	GUncertain significance
Select item 3125857	NM_001365693.1(MGAM):c.1847C>T (p.Ala616Val)	MGAM (A616V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125858	NM_001365693.1(MGAM):c.1871A>G (p.His624Arg)	MGAM (H624R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039309	NM_001365693.1(MGAM):c.1911A>C (p.Arg637Ser)	MGAM (R637S)	Single nucleotide variant (missense variant)	MGAM-related disorder	GLikely benign
Select item 2214644	NM_001365693.1(MGAM):c.1922C>G (p.Pro641Arg)	MGAM (P641R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658099	NM_001365693.1(MGAM):c.1926C>T (p.Gly642=)	MGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3125859	NM_001365693.1(MGAM):c.2014C>T (p.Arg672Trp)	MGAM (R672W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396663	NM_001365693.1(MGAM):c.2039A>G (p.Tyr680Cys)	MGAM (Y680C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125860	NM_001365693.1(MGAM):c.2097T>G (p.Phe699Leu)	MGAM (F699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294578	NM_001365693.1(MGAM):c.2140A>G (p.Asn714Asp)	MGAM (N714D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125861	NM_001365693.1(MGAM):c.2167C>G (p.Leu723Val)	MGAM (L723V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309611	NM_001365693.1(MGAM):c.2188G>T (p.Ala730Ser)	MGAM (A730S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349218	NM_001365693.1(MGAM):c.2271G>T (p.Gln757His)	MGAM (Q757H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052537	NM_001365693.1(MGAM):c.2374-4T>A	MGAM	Single nucleotide variant (intron variant)	MGAM-related disorder	GLikely benign
Select item 2457949	NM_001365693.1(MGAM):c.2414A>G (p.Glu805Gly)	MGAM (E805G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2387490	NM_001365693.1(MGAM):c.2432T>C (p.Ile811Thr)	MGAM (I811T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325394	NM_001365693.1(MGAM):c.2452G>C (p.Gly818Arg)	MGAM (G818R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125864	NM_001365693.1(MGAM):c.2576G>C (p.Gly859Ala)	MGAM (G859A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125865	NM_001365693.1(MGAM):c.2599A>G (p.Asn867Asp)	MGAM (N867D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463797	NM_001365693.1(MGAM):c.2619T>G (p.Cys873Trp)	MGAM (C873W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125867	NM_001365693.1(MGAM):c.2641C>T (p.Arg881Cys)	MGAM (R881C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029916	NM_001365693.1(MGAM):c.2642G>A (p.Arg881His)	MGAM (R881H)	Single nucleotide variant (missense variant)	MGAM-related disorder	GUncertain significance
Select item 3125868	NM_001365693.1(MGAM):c.2654A>C (p.Asn885Thr)	MGAM (N885T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297531	NM_001365693.1(MGAM):c.2684A>G (p.Asn895Ser)	MGAM (N895S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294591	NM_001365693.1(MGAM):c.2691A>T (p.Leu897Phe)	MGAM (L897F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344078	NM_001365693.1(MGAM):c.2697T>C (p.Phe899=)	MGAM	Single nucleotide variant (synonymous variant)	MGAM-related disorder	GLikely benign
Select item 3125869	NM_001365693.1(MGAM):c.2732G>C (p.Ser911Thr)	MGAM (S911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055165	NM_001365693.1(MGAM):c.2742A>G (p.Thr914=)	MGAM	Single nucleotide variant (synonymous variant)	MGAM-related disorder	GLikely benign
Select item 768206	NM_001365693.1(MGAM):c.2742A>C (p.Thr914=)	MGAM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3125870	NM_001365693.1(MGAM):c.2744T>C (p.Val915Ala)	MGAM (V915A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392006	NM_001365693.1(MGAM):c.2756G>A (p.Gly919Asp)	MGAM (G919D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294581	NM_001365693.1(MGAM):c.2809G>A (p.Ala937Thr)	MGAM (A937T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294589	NM_001365693.1(MGAM):c.2810C>T (p.Ala937Val)	MGAM (A937V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741599	NM_001365693.1(MGAM):c.2911A>G (p.Asn971Asp)	MGAM (N971D)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2352708	NM_001365693.1(MGAM):c.2942G>A (p.Arg981His)	MGAM (R981H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125871	NM_001365693.1(MGAM):c.2953T>A (p.Trp985Arg)	MGAM (W985R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392007	NM_001365693.1(MGAM):c.2966A>G (p.Asn989Ser)	MGAM (N989S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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