65267[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	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 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 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	LOC130068369, LOC130068370 +1399 more	Copy number gain	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	APOO, APOOL +2634 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068308, LOC130068309 +2634 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	ABCB7, ABCD1 +2634 more	Copy number gain	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 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 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC126863242, LOC126863243 +1629 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 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 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1164 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	SYP, SYP-AS1 +1164 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	LOC130068278, LOC130068279 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	LOC130068310, LOC130068311 +2633 more	Copy number gain	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	VAMP7, VBP1 +2632 more	Copy number loss	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 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	LOC107988022, LOC107988024 +2629 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC130067944, LOC130067945 +2629 more	Copy number gain	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 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	ABCB7, ABCD1 +2634 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
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068219, LOC130068220 +2633 more	Copy number gain	See cases	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 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	CLCN4, CLCN5 +1155 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863224, LOC126863225 +2632 more	Copy number gain	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 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 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	ACE2, ACE2-DT +1131 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	MAGED2, MAGED4 +1799 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	ABCB7, ABCD1 +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 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 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	LOC126863315, LOC126863316 +2633 more	Copy number gain	See cases	GPathogenic
Select item 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PAGE4, PAGE5 +1164 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC125467739, LOC125467740 +1494 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 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	CNKSR2, COL4A5 +2604 more	Copy number gain	See cases	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC130068152, LOC130068153 +2594 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	RBM10, RBM3 +1131 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068468, LOC130068469 +2594 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067984, LOC130067985 +2596 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	ABCB7, ABCD1 +2586 more	Copy number gain	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2047 more	Copy number loss	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	LOC130068242, LOC130068243 +2103 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	LOC126863280, LOC126863281 +2099 more	Copy number loss	See cases	GPathogenic
Select item 146707	GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	AKAP4, ALAS2 +343 more	Copy number gain	See cases	GPathogenic
Select item 148340	GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	IGBP1, IL2RG +640 more	Copy number loss	See cases	GPathogenic
Select item 153303	GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	LOC130068457, LOC130068458 +824 more	Copy number loss	See cases	GPathogenic
Select item 153755	GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	ALAS2, APEX2 +162 more	Copy number loss	See cases	GPathogenic
Select item 58617	GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3	ALAS2, APEX2 +162 more	Copy number gain	See cases	GPathogenic
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 154689	GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	LOC130068353, LOC130068354 +169 more	Copy number gain	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	P2RY10, P2RY4 +1590 more	Copy number loss	See cases	GPathogenic
Select item 148338	GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2	ALAS2, APEX2 +93 more	Copy number gain	See cases	GPathogenic
Select item 146617	GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2	ALAS2, APEX2 +92 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 757651	NM_020922.5(WNK3):c.5373T>C (p.Asn1791=)	WNK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190676	NM_020922.5(WNK3):c.5362T>C (p.Ser1788Pro)	WNK3 (S1731P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2454925	NM_020922.5(WNK3):c.5329C>T (p.Pro1777Ser)	WNK3 (P1720S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660657	NM_020922.5(WNK3):c.5243C>T (p.Ala1748Val)	WNK3 (A1691V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3252503	NM_020922.5(WNK3):c.5225A>G (p.Tyr1742Cys)	WNK3 (Y1685C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557504	NM_020922.5(WNK3):c.5183C>T (p.Pro1728Leu)	WNK3 (P1671L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190675	NM_020922.5(WNK3):c.5167T>C (p.Ser1723Pro)	WNK3 (S1666P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361452	NM_020922.5(WNK3):c.5087C>A (p.Thr1696Asn)	WNK3 (T1696N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582017	NM_020922.5(WNK3):c.4999A>C (p.Ile1667Leu)	WNK3 (I1610L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2526026	NM_020922.5(WNK3):c.4988G>A (p.Gly1663Glu)	WNK3 (G1606E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576850	NM_020922.5(WNK3):c.4928A>C (p.Lys1643Thr)	WNK3 (K1586T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253788	NM_020922.5(WNK3):c.4907A>G (p.Gln1636Arg)	WNK3 (Q1579R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294087	NM_020922.5(WNK3):c.4871A>T (p.Asn1624Ile)	WNK3 (N1624I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308658	NM_020922.5(WNK3):c.4796G>A (p.Arg1599His)	WNK3 (R1552H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345231	NM_020922.5(WNK3):c.4790G>A (p.Arg1597Gln)	WNK3 (R1550Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333173	NM_020922.5(WNK3):c.4775T>C (p.Phe1592Ser)	WNK3 (F1545S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465830	NM_020922.5(WNK3):c.4763G>A (p.Arg1588Gln)	WNK3 (R1588Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190674	NM_020922.5(WNK3):c.4757C>G (p.Pro1586Arg)	WNK3 (P1539R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543529	NM_020922.5(WNK3):c.4720A>T (p.Thr1574Ser)	WNK3 (T1527S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3367659	NM_020922.5(WNK3):c.4715G>T (p.Ser1572Ile)	WNK3 (S1525I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969286	NM_020922.5(WNK3):c.4694G>A (p.Arg1565His)	WNK3 (R1565H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2382361	NM_020922.5(WNK3):c.4683G>C (p.Glu1561Asp)	WNK3 (E1514D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504324	NM_020922.5(WNK3):c.4571A>T (p.Asp1524Val)	WNK3 (D1477V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734918	NM_020922.5(WNK3):c.4501G>A (p.Glu1501Lys)	WNK3 (E1454K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2502478	NM_020922.5(WNK3):c.4487G>A (p.Cys1496Tyr)	WNK3 (C1449Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2273390	NM_020922.5(WNK3):c.4479T>A (p.Ser1493Arg)	WNK3 (S1493R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342010	NM_020922.5(WNK3):c.4474G>A (p.Glu1492Lys)	WNK3 (E1445K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367738	NM_020922.5(WNK3):c.4397_4402delinsAAG (p.Gly1466_Gln1468delinsGluGlu)	WNK3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2242178	NM_020922.5(WNK3):c.4372A>G (p.Lys1458Glu)	WNK3 (K1411E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493527	NM_020922.5(WNK3):c.4331C>A (p.Ala1444Asp)	WNK3 (A1444D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253576	NM_020922.5(WNK3):c.4288G>A (p.Val1430Ile)	WNK3 (V1383I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305140	NM_020922.5(WNK3):c.4281G>T (p.Glu1427Asp)	WNK3 (E1380D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581961	NM_020922.5(WNK3):c.4268G>T (p.Ser1423Ile)	WNK3 (S1376I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392875	NM_020922.5(WNK3):c.4267A>C (p.Ser1423Arg)	WNK3 (S1423R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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