83605[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 351

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +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	ABCA13, ADCY1 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	AEBP1, BLVRA +231 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	LOC126860033, LOC126860034 +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 151519	GRCh38/hg38 7p13(chr7:44345798-45076469)x3	CCM2, DDX56 +58 more	Copy number gain	See cases	GUncertain significance
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	LOC113748397, LOC113748398 +200 more	Copy number loss	See cases	GPathogenic
Select item 427922	NM_031443.3(CCM2):c.-613A>G	CCM2	Single nucleotide variant	Cerebral cavernous malformation 2	Gnot provided
Select item 1266041	NC_000007.14:g.45000161_45000162insGGCCTGCTCT	CCM2, LOC129998395	Insertion (genic upstream transcript variant)	not provided	GBenign
Select item 1229705	NM_031443.4(CCM2):c.-37G>C	CCM2, LOC129998395	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 421825	NM_031443.4(CCM2):c.-27_-19dup	CCM2, LOC129998395	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 2684	NM_031443.4(CCM2):c.1A>G (p.Met1Val)	CCM2, LOC129998395 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 873433	NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)	CCM2, LOC129998395 (E3*)	Single nucleotide variant (nonsense)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 2680	NM_031443.4(CCM2):c.23del (p.Gly8fs)	CCM2, LOC129998395 (G8fs)	Deletion (frameshift variant)	Cerebral cavernous malformation 2	GPathogenic
Select item 1305187	NM_031443.4(CCM2):c.30G>C (p.Lys10Asn)	CCM2, LOC129998395 (K10N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 662968	NM_031443.4(CCM2):c.30G>A (p.Lys10=)	CCM2, LOC129998395	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 590655	NM_031443.4(CCM2):c.30+1G>A	CCM2, LOC129998395	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 2759819	NM_031443.4(CCM2):c.30+5G>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GUncertain significance
Select item 193463	NM_031443.4(CCM2):c.30+5_30+6delinsTT	CCM2, LOC129998395	Indel (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 517106	NM_031443.4(CCM2):c.30+6C>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261969	NM_031443.4(CCM2):c.30+17G>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1224029	NM_031443.4(CCM2):c.30+94_30+95insC	CCM2, LOC129998395	Insertion (intron variant)	not provided	GBenign
Select item 1291962	NM_031443.4(CCM2):c.30+101G>T	CCM2, LOC129998395	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222839	NM_031443.4(CCM2):c.30+101_30+102insT	CCM2, LOC129998395	Insertion (intron variant)	not provided	GBenign
Select item 427917	NM_031443.4(CCM2):c.30+2639G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427925	NM_031443.4(CCM2):c.30+4465C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427914	NM_031443.4(CCM2):c.31-18122A>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 427916	NM_031443.4(CCM2):c.31-14922C>T	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 1278177	NM_031443.4(CCM2):c.31-10835A>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 522245	NM_031443.4(CCM2):c.31-10585G>C	CCM2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 584080	NC_000007.14:g.(?_45027705)_(45086112_?)del	CCM2, LOC129998398 +2 more	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 2657439	NM_031443.4(CCM2):c.31-10496C>G	CCM2 (P18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3058171	NM_031443.4(CCM2):c.31-10449G>T	CCM2	Single nucleotide variant (intron variant)	CCM2-related condition	GLikely benign
Select item 2198628	NM_031443.4(CCM2):c.31-14G>A	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 590656	NM_031443.4(CCM2):c.31-3C>A	CCM2	Single nucleotide variant (intron variant)	CCM2-related condition	GUncertain significance
Select item 468335	NM_031443.4(CCM2):c.31-2A>G	CCM2	Single nucleotide variant (splice acceptor variant +1 more)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 2702639	NM_031443.4(CCM2):c.31-1G>C	CCM2	Single nucleotide variant (splice acceptor variant +1 more)	Cerebral cavernous malformation 2	GLikely pathogenic
Select item 468334	NC_000007.14:g.(?_45038253)_(45076470_?)del	CCM2, LOC132090779	Deletion	Cerebral cavernous malformation 2	GPathogenic
Select item 468336	NM_031443.4(CCM2):c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Insertion (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1978046	NM_031443.4(CCM2):c.43delinsATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer)	CCM2	Indel (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2136534	NM_031443.4(CCM2):c.48A>G (p.Pro16=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 810940	NM_031443.4(CCM2):c.48A>T (p.Pro16=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 2021487	NM_031443.4(CCM2):c.50_54del (p.Phe17fs)	CCM2 (F17fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2021488	NM_031443.4(CCM2):c.55C>A (p.Arg19=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 447028	NM_031443.4(CCM2):c.55C>T (p.Arg19Ter)	CCM2 (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2 +2 more	GPathogenic
Select item 2305788	NM_031443.4(CCM2):c.58G>A (p.Val20Ile)	CCM2 (V20I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 618554	NM_031443.4(CCM2):c.71del (p.Gly24fs)	CCM2 (G45fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 590665	NM_031443.4(CCM2):c.79_80del (p.Lys26_Ser27insTer)	CCM2	Microsatellite (nonsense +2 more)	not provided	GLikely pathogenic
Select item 1458144	NM_031443.4(CCM2):c.83_87del (p.Arg28fs)	CCM2 (R28fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1383573	NM_031443.4(CCM2):c.93del (p.Ala32fs)	CCM2 (A32fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1803741	NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)	CCM2 (K31N +1 more)	Single nucleotide variant (missense variant +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 804670	NM_031443.4(CCM2):c.98_123del (p.His33fs)	CCM2 (H54fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3003589	NM_031443.4(CCM2):c.120C>T (p.Arg40=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 376845	NM_031443.4(CCM2):c.122del (p.Pro41fs)	CCM2 (P41fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 493452	NM_031443.4(CCM2):c.126G>A (p.Leu42=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2 +2 more	GLikely benign
Select item 952312	NM_031443.4(CCM2):c.130_131del (p.Thr44fs)	CCM2 (T44fs +1 more)	Microsatellite (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2626151	NM_031443.4(CCM2):c.130A>T (p.Thr44Ser)	CCM2 (T65S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 590648	NM_031443.4(CCM2):c.134_135del (p.Val45fs)	CCM2 (V66fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 1344507	NM_031443.4(CCM2):c.147del (p.Leu49fs)	CCM2 (L49fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation	GPathogenic
Select item 1076028	NM_031443.4(CCM2):c.151G>T (p.Glu51Ter)	CCM2 (E51* +1 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2506064	NM_031443.4(CCM2):c.153G>T (p.Glu51Asp)	CCM2 (E51D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1898468	NM_031443.4(CCM2):c.156C>T (p.Arg52=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Cerebral cavernous malformation 2	GLikely benign
Select item 261965	NM_031443.4(CCM2):c.157G>A (p.Val53Ile)	CCM2 (V53I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 1776088	NM_031443.4(CCM2):c.159C>T (p.Val53=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3061342	NM_031443.4(CCM2):c.160G>T (p.Glu54Ter)	CCM2 (E54* +1 more)	Single nucleotide variant (nonsense +2 more)	CCM2-related condition	GLikely pathogenic
Select item 1054801	NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)	CCM2 (E54K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 917491	NM_031443.4(CCM2):c.164_165del (p.Pro55fs)	CCM2 (P55fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous angioma +1 more	GLikely pathogenic
Select item 590649	NM_031443.4(CCM2):c.169_172del (p.Arg57fs)	CCM2 (R78fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2864552	NM_031443.4(CCM2):c.166del (p.Asp56fs)	CCM2 (D56fs +1 more)	Deletion (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 590650	NM_031443.4(CCM2):c.169A>T (p.Arg57Ter)	CCM2 (R57* +1 more)	Single nucleotide variant (nonsense +2 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic/Likely pathogenic
Select item 524145	NM_031443.4(CCM2):c.174dup (p.Leu59fs)	CCM2 (L59fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1780546	NM_031443.4(CCM2):c.180C>T (p.Ser60=)	CCM2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 949782	NM_031443.4(CCM2):c.193_195del (p.Lys65del)	CCM2 (K65del +1 more)	Deletion (inframe_deletion +2 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 429309	NM_031443.4(CCM2):c.194_195dup (p.Glu66fs)	CCM2 (E66fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1998853	NM_031443.4(CCM2):c.199dup (p.Val67fs)	CCM2 (V67fs +1 more)	Duplication (frameshift variant +2 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 2126404	NM_031443.4(CCM2):c.204+3A>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2576037	NM_031443.4(CCM2):c.204+8G>A	CCM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1922338	NM_031443.4(CCM2):c.204+11A>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 261966	NM_031443.4(CCM2):c.204+37C>T	CCM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 427908	NM_031443.4(CCM2):c.204+2040T>C	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	Gnot provided
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 427911	NM_031443.4(CCM2):c.205-11866_205-11863del	CCM2	Deletion (intron variant)	Cerebral cavernous malformation 2	Gnot provided
Select item 1178024	NM_031443.4(CCM2):c.205-230T>G	CCM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 261967	NM_031443.4(CCM2):c.205-36A>G	CCM2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1546854	NM_031443.4(CCM2):c.205-18T>G	CCM2	Single nucleotide variant (intron variant)	Cerebral cavernous malformation 2	GLikely benign
Select item 279739	NM_031443.4(CCM2):c.214C>T (p.Gln72Ter)	CCM2 (Q72* +2 more)	Single nucleotide variant (nonsense +1 more)	Cerebral cavernous malformation 2 +1 more	GPathogenic
Select item 570247	NM_031443.4(CCM2):c.219_220del (p.Leu73fs)	CCM2 (L73fs +2 more)	Deletion (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1438828	NM_031443.4(CCM2):c.221C>T (p.Thr74Met)	CCM2 (T16M +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 733083	NM_031443.4(CCM2):c.222G>A (p.Thr74=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Cerebral cavernous malformation 2 +2 more	GBenign/Likely benign
Select item 2539203	NM_031443.4(CCM2):c.226A>T (p.Ile76Leu)	CCM2 (I18L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1070815	NM_031443.4(CCM2):c.228dup (p.Pro77fs)	CCM2 (P19fs +2 more)	Duplication (frameshift variant +1 more)	Cerebral cavernous malformation 2	GPathogenic
Select item 1328001	NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)	CCM2 (Y100fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 261968	NM_031443.4(CCM2):c.246C>T (p.Pro82=)	CCM2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1796412	NM_031443.4(CCM2):c.281A>G (p.Asn94Ser)	CCM2 (N36S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2036489	NM_031443.4(CCM2):c.288G>T (p.Lys96Asn)	CCM2 (K96N +2 more)	Single nucleotide variant (missense variant +1 more)	Cerebral cavernous malformation 2	GUncertain significance
Select item 2685	NM_031443.4(CCM2):c.288+1G>A	CCM2	Single nucleotide variant (splice donor variant)	Cerebral cavernous malformation 2	GPathogenic

<< First< Prev

Page of 4