107[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 293

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 59304	GRCh38/hg38 7p14.1-12.3(chr7:39814159-45749735)x1	SNORA5A, SNORA5B +212 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 58547	GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1	ADCY1, CAMK2B +95 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 3063593	NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv]	LOC129998399, LOC129998400 +27 more	Indel	Cerebral cavernous malformation 2	GPathogenic
Select item 2096774	NM_021116.4(ADCY1):c.4G>C (p.Ala2Pro)	ADCY1 (A2P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968255	NM_021116.4(ADCY1):c.20GCGGAGGCGGCG[3] (p.Gly14_Ala15insGlyGlyGlyGly)	ADCY1	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2958542	NM_021116.4(ADCY1):c.20GCGGAGGCGGCG[1] (p.Gly11_Gly14del)	ADCY1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2960929	NM_021116.4(ADCY1):c.27C>A (p.Gly9=)	ADCY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000893	NM_021116.4(ADCY1):c.49G>A (p.Glu17Lys)	ADCY1 (E17K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2278644	NM_021116.4(ADCY1):c.85C>T (p.Arg29Cys)	ADCY1 (R29C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2954895	NM_021116.4(ADCY1):c.89G>C (p.Arg30Pro)	ADCY1 (R30P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988548	NM_021116.4(ADCY1):c.100C>G (p.Arg34Gly)	ADCY1 (R34G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2980716	NM_021116.4(ADCY1):c.142C>T (p.Leu48=)	ADCY1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2542340	NM_021116.4(ADCY1):c.173A>G (p.Gln58Arg)	ADCY1 (Q58R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1316202	NM_021116.4(ADCY1):c.204C>T (p.Leu68=)	ADCY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956608	NM_021116.4(ADCY1):c.217G>A (p.Gly73Ser)	ADCY1, LOC129998402 (G73S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968191	NM_021116.4(ADCY1):c.231G>A (p.Leu77=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1238867	NM_021116.4(ADCY1):c.234C>G (p.Ala78=)	LOC129998402, ADCY1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1317252	NM_021116.4(ADCY1):c.248C>T (p.Ala83Val)	ADCY1, LOC129998402 (A83V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2956948	NM_021116.4(ADCY1):c.251C>G (p.Pro84Arg)	ADCY1, LOC129998402 (P84R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1317902	NM_021116.4(ADCY1):c.258C>G (p.Pro86=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1564189	NM_021116.4(ADCY1):c.273C>A (p.Ala91=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2820381	NM_021116.4(ADCY1):c.278G>A (p.Gly93Asp)	ADCY1, LOC129998402 (G93D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901104	NM_021116.4(ADCY1):c.300C>T (p.Val100=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1998034	NM_021116.4(ADCY1):c.337T>C (p.Ser113Pro)	ADCY1 (S113P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2208326	NM_021116.4(ADCY1):c.350C>T (p.Pro117Leu)	ADCY1 (P117L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2990661	NM_021116.4(ADCY1):c.351C>T (p.Pro117=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2960438	NM_021116.4(ADCY1):c.387C>T (p.Phe129=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2216822	NM_021116.4(ADCY1):c.387C>A (p.Phe129Leu)	ADCY1 (F129L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1450370	NM_021116.4(ADCY1):c.415C>T (p.Pro139Ser)	ADCY1 (P139S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3023723	NM_021116.4(ADCY1):c.423G>C (p.Ala141=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1393605	NM_021116.4(ADCY1):c.439C>G (p.Arg147Gly)	ADCY1 (R147G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3081091	NM_021116.4(ADCY1):c.440G>C (p.Arg147Pro)	ADCY1 (R147P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 593110	NM_021116.4(ADCY1):c.450C>T (p.Ala150=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2840849	NM_021116.4(ADCY1):c.455C>A (p.Ala152Asp)	ADCY1 (A152D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1318231	NM_021116.4(ADCY1):c.462G>A (p.Gly154=)	ADCY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3081097	NM_021116.4(ADCY1):c.464G>T (p.Gly155Val)	ADCY1 (G155V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538868	NM_021116.4(ADCY1):c.469G>A (p.Ala157Thr)	ADCY1 (A157T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478760	NM_021116.4(ADCY1):c.475G>T (p.Ala159Ser)	ADCY1 (A159S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3002892	NM_021116.4(ADCY1):c.510C>T (p.Thr170=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1496565	NM_021116.4(ADCY1):c.543C>A (p.Ser181Arg)	ADCY1 (S181R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3001503	NM_021116.4(ADCY1):c.553A>G (p.Ile185Val)	ADCY1 (I185V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1928055	NM_021116.4(ADCY1):c.602C>T (p.Thr201Ile)	ADCY1 (T201I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1615077	NM_021116.4(ADCY1):c.603C>T (p.Thr201=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1290583	NM_021116.4(ADCY1):c.640-267G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316836	NM_021116.4(ADCY1):c.640-198G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1348800	NM_021116.4(ADCY1):c.640-3C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1619083	NM_021116.4(ADCY1):c.642C>T (p.Leu214=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3081107	NM_021116.4(ADCY1):c.644G>T (p.Gly215Val)	ADCY1 (G215V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2974446	NM_021116.4(ADCY1):c.669T>C (p.Gly223=)	ADCY1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1472857	NM_021116.4(ADCY1):c.725C>T (p.Ala242Val)	ADCY1 (A242V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257758	NM_021116.4(ADCY1):c.789+115T>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316838	NM_021116.4(ADCY1):c.790-85G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933461	NM_021116.4(ADCY1):c.790-11C>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667184	NM_021116.4(ADCY1):c.790-3C>T	ADCY1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2791849	NM_021116.4(ADCY1):c.798C>T (p.Leu266=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662293	NM_021116.4(ADCY1):c.816C>G (p.Pro272=)	ADCY1	Single nucleotide variant (synonymous variant)	ADCY1-related disorder +1 more	GLikely benign
Select item 1898719	NM_021116.4(ADCY1):c.823G>A (p.Val275Ile)	ADCY1 (V275I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 517530	NM_021116.4(ADCY1):c.897C>T (p.His299=)	ADCY1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1639269	NM_021116.4(ADCY1):c.908+19C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904491	NM_021116.4(ADCY1):c.908+20G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243555	NM_021116.4(ADCY1):c.908+271_908+272insGGTG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1266220	NM_021116.4(ADCY1):c.908+276G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228327	NM_021116.4(ADCY1):c.908+281_908+282insA	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1254382	NM_021116.4(ADCY1):c.908+293G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265592	NM_021116.4(ADCY1):c.908+300T>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259771	NM_021116.4(ADCY1):c.908+302G>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241297	NM_021116.4(ADCY1):c.908+320_908+321insG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 1318105	NM_021116.4(ADCY1):c.908+322T>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230931	NM_021116.4(ADCY1):c.908+324_908+325insCGG	ADCY1	Insertion (intron variant)	not provided	GBenign
Select item 2693204	NM_021116.4(ADCY1):c.909-19G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 929870	NM_021116.4(ADCY1):c.984C>T (p.Leu328=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 718536	NM_021116.4(ADCY1):c.1005C>T (p.Phe335=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1560722	NM_021116.4(ADCY1):c.1020+11C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270900	NM_021116.4(ADCY1):c.1021-196A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286873	NM_021116.4(ADCY1):c.1021-36G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044660	NM_021116.4(ADCY1):c.1023G>A (p.Glu341=)	ADCY1	Single nucleotide variant (synonymous variant)	ADCY1-related disorder	GLikely benign
Select item 1450785	NM_021116.4(ADCY1):c.1068C>T (p.Cys356=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2712281	NM_021116.4(ADCY1):c.1098C>T (p.Asp366=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892995	NM_021116.4(ADCY1):c.1131C>T (p.Asp377=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962485	NM_021116.4(ADCY1):c.1148+12G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899143	NM_021116.4(ADCY1):c.1148+15G>C	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567571	NM_021116.4(ADCY1):c.1148+18C>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277175	NM_021116.4(ADCY1):c.1148+179A>G	ADCY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316960	NM_021116.4(ADCY1):c.1148+197C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316959	NM_021116.4(ADCY1):c.1148+220C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316683	NM_021116.4(ADCY1):c.1149-258A>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317935	NM_021116.4(ADCY1):c.1149-238C>T	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188952	NM_021116.4(ADCY1):c.1149-31C>G	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188953	NM_021116.4(ADCY1):c.1149-29T>C	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1657920	NM_021116.4(ADCY1):c.1149-20G>A	ADCY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568723	NM_021116.4(ADCY1):c.1167C>T (p.Thr389=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2252984	NM_021116.4(ADCY1):c.1174G>A (p.Asp392Asn)	ADCY1 (D392N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667063	NM_021116.4(ADCY1):c.1200C>T (p.His400=)	ADCY1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2889986	NM_021116.4(ADCY1):c.1203G>T (p.Thr401=)	ADCY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 3