21931[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 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	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 59694	GRCh38/hg38 7q34(chr7:138795539-140364913)x3	ATP6V0A4, CLEC2L +86 more	Copy number gain	See cases	GUncertain significance
Select item 2494471	NM_173569.4(UBN2):c.104C>A (p.Pro35His)	LOC129999464, UBN2 (P35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334043	NM_173569.4(UBN2):c.107C>T (p.Pro36Leu)	LOC129999464, UBN2 (P36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185678	NM_173569.4(UBN2):c.124C>T (p.Pro42Ser)	LOC129999464, UBN2 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330644	NM_173569.4(UBN2):c.176C>T (p.Pro59Leu)	LOC129999464, UBN2 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351938	NM_173569.4(UBN2):c.178C>G (p.Arg60Gly)	LOC129999464, UBN2 (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324506	NM_173569.4(UBN2):c.185A>T (p.Asp62Val)	LOC129999464, UBN2 (D62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658014	NM_173569.4(UBN2):c.222G>A (p.Gln74=)	LOC129999464, UBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280769	NM_173569.4(UBN2):c.223C>G (p.Arg75Gly)	LOC129999464, UBN2 (R75G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185682	NM_173569.4(UBN2):c.233G>A (p.Ser78Asn)	LOC129999464, UBN2 (S78N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185683	NM_173569.4(UBN2):c.236G>A (p.Arg79His)	LOC129999464, UBN2 (R79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283157	NM_173569.4(UBN2):c.241G>A (p.Glu81Lys)	LOC129999464, UBN2 (E81K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351635	NM_173569.4(UBN2):c.277C>G (p.Pro93Ala)	LOC129999464, UBN2 (P93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344597	NM_173569.4(UBN2):c.329G>A (p.Arg110Gln)	LOC129999464, UBN2 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185692	NM_173569.4(UBN2):c.343C>G (p.Arg115Gly)	UBN2 (R115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185693	NM_173569.4(UBN2):c.344G>A (p.Arg115Gln)	UBN2 (R115Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392362	NM_173569.4(UBN2):c.352C>A (p.Gln118Lys)	UBN2 (Q118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033481	NM_173569.4(UBN2):c.358C>T (p.Pro120Ser)	UBN2 (P120S)	Single nucleotide variant (missense variant)	UBN2-related disorder	GBenign
Select item 3053845	NM_173569.4(UBN2):c.385C>T (p.Leu129=)	UBN2	Single nucleotide variant (synonymous variant)	UBN2-related disorder	GLikely benign
Select item 3185695	NM_173569.4(UBN2):c.406C>G (p.Pro136Ala)	UBN2 (P136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788864	NM_173569.4(UBN2):c.424G>T (p.Val142Leu)	UBN2 (V142L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778367	NM_173569.4(UBN2):c.451C>T (p.Leu151=)	UBN2	Single nucleotide variant (synonymous variant)	UBN2-related disorder +1 more	GBenign/Likely benign
Select item 786411	NM_173569.4(UBN2):c.467G>C (p.Arg156Pro)	UBN2 (R156P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3330641	NM_173569.4(UBN2):c.503A>G (p.Asp168Gly)	UBN2 (D168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725977	NM_173569.4(UBN2):c.660G>A (p.Glu220=)	UBN2	Single nucleotide variant (synonymous variant)	UBN2-related disorder +1 more	GBenign
Select item 2548576	NM_173569.4(UBN2):c.677T>C (p.Val226Ala)	UBN2 (V226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185696	NM_173569.4(UBN2):c.751G>T (p.Asp251Tyr)	UBN2 (D251Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274555	NM_173569.4(UBN2):c.751G>A (p.Asp251Asn)	UBN2 (D251N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185697	NM_173569.4(UBN2):c.752A>T (p.Asp251Val)	UBN2 (D251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185698	NM_173569.4(UBN2):c.765T>A (p.Asp255Glu)	UBN2 (D255E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185699	NM_173569.4(UBN2):c.827T>C (p.Ile276Thr)	UBN2 (I276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185700	NM_173569.4(UBN2):c.845A>C (p.Lys282Thr)	UBN2 (K282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039631	NM_173569.4(UBN2):c.905+5G>A	UBN2	Single nucleotide variant (intron variant)	UBN2-related disorder	GBenign
Select item 3053038	NM_173569.4(UBN2):c.906-10G>A	UBN2	Single nucleotide variant (intron variant)	UBN2-related disorder	GLikely benign
Select item 2621401	NM_173569.4(UBN2):c.950G>A (p.Arg317His)	UBN2 (R317H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262191	NM_173569.4(UBN2):c.953A>G (p.Tyr318Cys)	UBN2 (Y318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249643	NM_173569.4(UBN2):c.965T>A (p.Leu322His)	UBN2 (L322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330643	NM_173569.4(UBN2):c.1019A>G (p.Lys340Arg)	UBN2 (K340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540453	NM_173569.4(UBN2):c.1034A>G (p.Lys345Arg)	UBN2 (K345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296936	NM_173569.4(UBN2):c.1070A>C (p.Lys357Thr)	UBN2 (K357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461127	NM_173569.4(UBN2):c.1078T>C (p.Cys360Arg)	UBN2 (C360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632864	NM_173569.4(UBN2):c.1140C>A (p.Asp380Glu)	UBN2 (D380E)	Single nucleotide variant (missense variant)	UBN2-related disorder	GUncertain significance
Select item 2531428	NM_173569.4(UBN2):c.1148T>C (p.Ile383Thr)	UBN2 (I383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268045	NM_173569.4(UBN2):c.1156A>G (p.Ser386Gly)	UBN2 (S386G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788865	NM_173569.4(UBN2):c.1204A>G (p.Met402Val)	UBN2 (M402V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784638	NM_173569.4(UBN2):c.1293C>G (p.Thr431=)	UBN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3185679	NM_173569.4(UBN2):c.1309A>C (p.Thr437Pro)	UBN2 (T437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044425	NM_173569.4(UBN2):c.1462C>T (p.Leu488=)	UBN2	Single nucleotide variant (synonymous variant)	UBN2-related disorder	GLikely benign
Select item 2321672	NM_173569.4(UBN2):c.1493G>A (p.Gly498Asp)	UBN2 (G498D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341899	NM_173569.4(UBN2):c.1505G>A (p.Arg502His)	UBN2 (R502H)	Single nucleotide variant (missense variant)	UBN2 associated Autism susceptibility	GUncertain significance
Select item 3330639	NM_173569.4(UBN2):c.1511G>C (p.Gly504Ala)	UBN2 (G504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330647	NM_173569.4(UBN2):c.1589A>G (p.Asn530Ser)	UBN2 (N530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544239	NM_173569.4(UBN2):c.1643G>A (p.Ser548Asn)	UBN2 (S548N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050098	NM_173569.4(UBN2):c.1694G>A (p.Arg565His)	UBN2 (R565H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2355559	NM_173569.4(UBN2):c.1701A>C (p.Gln567His)	UBN2 (Q567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381179	NM_173569.4(UBN2):c.1736G>A (p.Arg579Gln)	UBN2 (R579Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223200	NM_173569.4(UBN2):c.1822A>G (p.Thr608Ala)	UBN2 (T608A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631094	NM_173569.4(UBN2):c.1993C>T (p.Arg665Trp)	UBN2 (R665W)	Single nucleotide variant (missense variant)	UBN2-related disorder	GUncertain significance
Select item 689795	NM_173569.4(UBN2):c.2024+1G>A	UBN2	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2363503	NM_173569.4(UBN2):c.2176G>A (p.Gly726Ser)	UBN2 (G726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206322	NM_173569.4(UBN2):c.2240A>C (p.Gln747Pro)	UBN2 (Q747P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185680	NM_173569.4(UBN2):c.2243A>C (p.Glu748Ala)	UBN2 (E748A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185681	NM_173569.4(UBN2):c.2258A>G (p.Asp753Gly)	UBN2 (D753G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368396	NM_173569.4(UBN2):c.2293C>T (p.Pro765Ser)	UBN2 (P765S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385182	NM_173569.4(UBN2):c.2365A>G (p.Arg789Gly)	UBN2 (R789G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347400	NM_173569.4(UBN2):c.2402T>C (p.Leu801Pro)	UBN2 (L801P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330648	NM_173569.4(UBN2):c.2450C>T (p.Thr817Ile)	UBN2 (T817I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185684	NM_173569.4(UBN2):c.2470A>T (p.Thr824Ser)	UBN2 (T824S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049290	NM_173569.4(UBN2):c.2471C>T (p.Thr824Ile)	UBN2 (T824I)	Single nucleotide variant (missense variant)	UBN2-related disorder	GBenign
Select item 3330645	NM_173569.4(UBN2):c.2506C>G (p.His836Asp)	UBN2 (H836D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057481	NM_173569.4(UBN2):c.2511A>G (p.Thr837=)	UBN2	Single nucleotide variant (synonymous variant)	UBN2-related disorder	GLikely benign
Select item 2681632	NM_173569.4(UBN2):c.2530C>T (p.Pro844Ser)	UBN2 (P844S)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3185685	NM_173569.4(UBN2):c.2542G>T (p.Ala848Ser)	UBN2 (A848S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366881	NM_173569.4(UBN2):c.2594C>T (p.Pro865Leu)	UBN2 (P865L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185686	NM_173569.4(UBN2):c.2648G>A (p.Arg883Lys)	UBN2 (R883K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711893	NM_173569.4(UBN2):c.2761T>G (p.Ser921Ala)	UBN2 (S921A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2597867	NM_173569.4(UBN2):c.2878A>G (p.Asn960Asp)	UBN2 (N960D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540627	NM_173569.4(UBN2):c.2884C>T (p.Pro962Ser)	UBN2 (P962S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185688	NM_173569.4(UBN2):c.2912T>C (p.Ile971Thr)	UBN2 (I971T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330640	NM_173569.4(UBN2):c.2936T>C (p.Met979Thr)	UBN2 (M979T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034071	NM_173569.4(UBN2):c.2937G>A (p.Met979Ile)	UBN2 (M979I)	Single nucleotide variant (missense variant)	UBN2-related disorder	GLikely benign
Select item 2569846	NM_173569.4(UBN2):c.2942G>A (p.Arg981His)	UBN2 (R981H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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