ClinVar for Gene (Select 438) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256181	NM_001171038.2(ASMT):c.706G>A (p.Val236Ile)	ASMT (V208I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060990	NM_001171038.2(ASMT):c.630C>G (p.Arg210=)	ASMT	Single nucleotide variant (synonymous variant +1 more)	ASMT-related disorder	GLikely benign
Select item 3036492	NM_001171038.2(ASMT):c.568T>C (p.Trp190Arg)	ASMT (W190R)	Single nucleotide variant (missense variant +1 more)	ASMT-related disorder	GBenign
Select item 3036440	NM_001171038.2(ASMT):c.910+8del	ASMT	Deletion (intron variant)	ASMT-related disorder	GLikely benign
Select item 3036285	NM_001171038.2(ASMT):c.861C>T (p.Asp287=)	ASMT	Single nucleotide variant (synonymous variant)	ASMT-related disorder	GBenign
Select item 3029851	NM_001171038.2(ASMT):c.366C>T (p.Asp122=)	ASMT	Single nucleotide variant (synonymous variant)	ASMT-related disorder	GLikely benign
Select item 2688617	NM_001171038.2(ASMT):c.562+2T>C	ASMT	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 2688616	NM_001171038.2(ASMT):c.687C>A (p.Tyr229Ter)	ASMT (Y201* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2688615	NM_001171038.2(ASMT):c.796T>G (p.Phe266Val)	ASMT (F191V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688614	NM_001171038.2(ASMT):c.51C>A (p.Asn17Lys)	ASMT (N17K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599440	NM_001171038.2(ASMT):c.241A>G (p.Lys81Glu)	ASMT (K81E)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
Select item 488031	Single allele	LINC00685, LOC101929148 +160 more	Duplication	Autism	GLikely pathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 285309	NM_001171038.2(ASMT):c.87C>A (p.Cys29Ter)	ASMT (C29*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 155673	GRCh38/hg38 Xp22.33(chrX:1615504-2531194)x3	ASMT, DHRSX +1 more	Copy number gain	See cases	GUncertain significance
Select item 155630	GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0	AKAP17A, ANOS1 +101 more	Copy number loss	See cases	GPathogenic
Select item 155429	GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	FANCB, FRMPD4 +529 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155352	GRCh38/hg38 Yp11.31-q11.21(chrY:301880-11680029)x3	AKAP17A, AMELY +83 more	Copy number gain	See cases	GLikely pathogenic
Select item 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	LOC121627970, LOC121627971 +1042 more	Copy number loss	See cases	GPathogenic
Select item 155172	GRCh38/hg38 Xp22.33(chrX:1285856-1912497)x3	AKAP17A, ASMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	ACE2, ACE2-DT +1131 more	Copy number loss	See cases	GPathogenic
Select item 155003	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1	AKAP17A, ARSD +109 more	Copy number loss	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	LOC126863325, LOC126863326 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154283	GRCh38/hg38 Xp22.33(chrX:1615503-2435294)x3	ASMT, DHRSX	Copy number gain	See cases	GUncertain significance
Select item 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	LOC130067990, LOC130067991 +1217 more	Copy number loss	See cases	GPathogenic
Select item 154109	GRCh38/hg38 Xp22.33(chrX:1063677-1838017)x3	ASMT, ASMTL-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 153957	GRCh38/hg38 Xp22.33(chrX:1615504-2464503)x3	ASMT, DHRSX	Copy number gain	See cases	GUncertain significance
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 153932	GRCh38/hg38 Xp22.33(chrX:1629687-2467509)x3	ASMT, DHRSX	Copy number gain	See cases	GUncertain significance
Select item 153789	GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1	ACE2, ACE2-DT +301 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	ACE2, ACE2-DT +1000 more	Copy number loss	See cases	GPathogenic
Select item 153601	GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1	AKAP17A, ANOS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	ACE2, ACE2-DT +987 more	Copy number loss	See cases	GPathogenic
Select item 153179	GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1	AKAP17A, ARSD +80 more	Copy number loss	See cases	GPathogenic
Select item 153136	GRCh38/hg38 Yp11.2(chrY:1112351-1702424)x3	AKAP17A, ASMT +9 more	Copy number gain	See cases	GUncertain significance
Select item 152910	GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1	AKAP17A, AMELY +158 more	Copy number loss	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	ABCB7, ABCD1 +2634 more	Copy number gain	See cases	GPathogenic
Select item 152898	GRCh38/hg38 Xp22.33(chrX:21267-2299223)x1	AKAP17A, ASMT +27 more	Copy number loss	See cases	GPathogenic
Select item 152735	GRCh38/hg38 Xp22.33(chrX:1501187-2274827)x3	AKAP17A, ASMT +2 more	Copy number gain	See cases	GUncertain significance
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC130068098, LOC130068099 +2633 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	ABCB7, ABCD1 +2633 more	Copy number gain	See cases	GPathogenic
Select item 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	VCX3A, VCX3B +1070 more	Copy number loss	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 151125	GRCh38/hg38 Xp22.33(chrX:1027415-1702424)x3	AKAP17A, ASMT +9 more	Copy number gain	See cases	GLikely benign
Select item 150560	GRCh38/hg38 Xp22.33(chrX:1636755-1816481)x3	ASMT	Copy number gain	See cases	GLikely benign
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
Select item 150507	GRCh38/hg38 Yp11.2(chrY:1441666-1791189)x0	AKAP17A, ASMT +2 more	Copy number loss	See cases	GLikely benign
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	LOC130068055, LOC130068056 +2612 more	Copy number loss	See cases	GPathogenic
Select item 150134	GRCh38/hg38 Xp22.33(chrX:1609575-2465371)x3	ASMT, DHRSX	Copy number gain	See cases	GUncertain significance
Select item 149707	GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1	AKAP17A, AMELX +184 more	Copy number loss	See cases	GPathogenic
Select item 148957	GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	ACE2, ACE2-DT +536 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 more	Copy number loss	See cases	GPathogenic
Select item 148818	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0	AKAP17A, ANOS1 +112 more	Copy number loss	See cases	GPathogenic
Select item 148817	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1	AKAP17A, ARSD +106 more	Copy number loss	See cases	GPathogenic
Select item 148610	GRCh38/hg38 Xp22.33(chrX:1000807-1702424)x3	AKAP17A, ASMT +9 more	Copy number gain	See cases	GUncertain significance
Select item 148481	GRCh38/hg38 Yp11.32-q11.222(chrY:10701-17951506)x0	AKAP17A, AMELY +101 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	LOC130068348, LOC130068349 +1164 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	ZNF41, ZNF630 +1009 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	LOC130068042, LOC130068043 +910 more	Copy number loss	See cases	GPathogenic
Select item 148177	GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1	ASMTL, ASMTL-AS1 +282 more	Copy number loss	See cases	GPathogenic
Select item 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	LOC130067965, LOC130067966 +920 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	LOC130067939, LOC130067940 +1014 more	Copy number loss	See cases	GPathogenic
Select item 147805	GRCh38/hg38 Xp22.33(chrX:1227766-1807393)x3	AKAP17A, ASMT +8 more	Copy number gain	See cases	GUncertain significance
Select item 147731	GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0	AKAP17A, ANOS1 +122 more	Copy number loss	See cases	GPathogenic
Select item 147711	GRCh38/hg38 Xp22.33(chrX:10679-2777359)x1	AKAP17A, ASMT +32 more	Copy number loss	See cases	GPathogenic
Select item 147316	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1	AKAP17A, ARSD +110 more	Copy number loss	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC121627971, LOC121627972 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	LOC130068075, LOC130068076 +2633 more	Copy number loss	See cases	GPathogenic
Select item 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	LOC130068153, LOC130068154 +1933 more	Copy number loss	See cases	GPathogenic
Select item 146854	GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3	AKAP17A, ARSD +106 more	Copy number gain	See cases	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 146681	GRCh38/hg38 Xp22.33(chrX:936345-1838841)x3	AKAP17A, ASMT +9 more	Copy number gain	See cases	GLikely benign
Select item 146466	GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1	AKAP17A, ARSD +110 more	Copy number loss	See cases	GPathogenic
Select item 146390	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146389	GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)	AKAP17A, AMELY +162 more	Copy number loss	See cases	GPathogenic
Select item 146332	GRCh38/hg38 Yp11.32-q11.221(chrY:10679-13139461)x0	AKAP17A, AMELY +88 more	Copy number loss	See cases	GPathogenic
Select item 146330	GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0	AKAP17A, ARSD +57 more	Copy number loss	See cases	GPathogenic
Select item 146239	GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	PDK3, PHEX +530 more	Copy number loss	See cases	GPathogenic
Select item 146003	GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	AKAP17A, ARSD +87 more	Copy number loss	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 more	Copy number loss	See cases	GPathogenic
Select item 145978	GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1	AKAP17A, ARSD +80 more	Copy number loss	See cases	GPathogenic
Select item 145973	GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	ACE2, ACE2-DT +533 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	ACE2, ACE2-DT +1025 more	Copy number gain	See cases	GPathogenic
Select item 145574	GRCh38/hg38 Xp22.33(chrX:1248646-2363996)x3	AKAP17A, ASMT +9 more	Copy number gain	See cases	GUncertain significance
Select item 145316	GRCh38/hg38 Xp22.33(chrX:1636755-2597099)x3	ASMT, DHRSX +1 more	Copy number gain	See cases	GUncertain significance
Select item 145304	GRCh38/hg38 Xp22.33(chrX:1636755-1854368)x3	ASMT	Copy number gain	See cases	GUncertain significance
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	LOC130067929, LOC130067930 +2633 more	Copy number gain	See cases	GPathogenic

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