ClinVar for Gene (Select 293) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370369	GRCh38/hg38 Xp22.33-22.2(chrX:11091-10219826)x1	AKAP17A, ANOS1 +145 more	Copy number loss	Intellectual disability	GPathogenic
Select item 3036192	NM_001636.4(SLC25A6):c.599-6G>C	SLC25A6	Single nucleotide variant (intron variant)	SLC25A6-related disorder	GBenign
Select item 3036125	NM_001636.4(SLC25A6):c.408C>T (p.Phe136=)	SLC25A6	Single nucleotide variant (synonymous variant)	SLC25A6-related disorder	GLikely benign
Select item 3032859	NM_001636.4(SLC25A6):c.687C>T (p.Tyr229=)	SLC25A6	Single nucleotide variant (synonymous variant)	SLC25A6-related disorder	GLikely benign
Select item 2659859	NM_001636.4(SLC25A6):c.375G>A (p.Ala125=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788322	NM_001636.4(SLC25A6):c.429G>A (p.Ala143=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785691	NM_001636.4(SLC25A6):c.267C>T (p.Phe89=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781639	NM_001636.4(SLC25A6):c.306C>T (p.Gly102=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774972	NM_001636.4(SLC25A6):c.762C>T (p.Thr254=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741178	NM_001636.4(SLC25A6):c.453G>A (p.Glu151=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733296	NM_001636.4(SLC25A6):c.585C>T (p.Tyr195=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717418	NM_001636.4(SLC25A6):c.759C>T (p.Gly253=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 709133	NM_001636.4(SLC25A6):c.225T>G (p.Leu75=)	SLC25A6	Single nucleotide variant (synonymous variant)	not provided	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 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 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 155229	GRCh38/hg38 Xp22.33(chrX:1063704-1598200)x3	AKAP17A, ASMTL +8 more	Copy number gain	See cases	GUncertain significance
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 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 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
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 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 151972	GRCh38/hg38 Yp11.2(chrY:1086932-1464861)x3	ASMTL, ASMTL-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 151792	GRCh38/hg38 Xp22.33(chrX:1086932-1464861)x3	ASMTL, ASMTL-AS1 +7 more	Copy number gain	See cases	GBenign
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 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	LOC130067920, LOC130067921 +1476 more	Copy number loss	See cases	GPathogenic
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 150381	GRCh38/hg38 Xp22.33(chrX:620976-1506411)x3	ASMTL, ASMTL-AS1 +17 more	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 145945	GRCh38/hg38 Xp22.33(chrX:820136-1397810)x3	CNE7, CNE8 +9 more	Copy number gain	See cases	GLikely benign
Select item 145825	GRCh38/hg38 Yp11.2(chrY:1055101-1420616)x3	ASMTL, ASMTL-AS1 +6 more	Copy number gain	See cases	GLikely benign
Select item 145824	GRCh38/hg38 Xp22.33(chrX:1055101-1420616)x3	ASMTL, ASMTL-AS1 +6 more	Copy number gain	See cases	GLikely benign
Select item 145778	GRCh38/hg38 Xp22.33(chrX:795387-1499689)x3	ASMTL, ASMTL-AS1 +13 more	Copy number gain	See cases	GBenign
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 145438	GRCh38/hg38 Yp11.31-11.2(chrY:302967-1581104)x0	ASMTL, ASMTL-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 145408	GRCh38/hg38 Xp22.33(chrX:1059289-1549195)x3	ASMTL, ASMTL-AS1 +7 more	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

<< First< Prev

Page of 2