12558[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 3186339	NM_003565.4(ULK1):c.52C>T (p.Arg18Cys)	ULK1 (R18C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186316	NM_003565.4(ULK1):c.100C>T (p.Arg34Cys)	ULK1 (R34C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643610	NM_003565.4(ULK1):c.135C>T (p.Val45=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2526952	NM_003565.4(ULK1):c.317C>A (p.Ala106Asp)	ULK1 (A106D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598528	NM_003565.4(ULK1):c.527T>C (p.Met176Thr)	ULK1 (M176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781095	NM_003565.4(ULK1):c.648G>A (p.Thr216=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044869	NM_003565.4(ULK1):c.725C>T (p.Thr242Ile)	ULK1 (T242I)	Single nucleotide variant (missense variant)	ULK1-related disorder	GLikely benign
Select item 2207559	NM_003565.4(ULK1):c.821A>G (p.His274Arg)	ULK1 (H274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355252	NM_003565.4(ULK1):c.901G>A (p.Gly301Ser)	ULK1 (G301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186340	NM_003565.4(ULK1):c.947C>T (p.Pro316Leu)	ULK1 (P316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389145	NM_003565.4(ULK1):c.958G>A (p.Glu320Lys)	ULK1 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186317	NM_003565.4(ULK1):c.1025G>A (p.Arg342Gln)	ULK1 (R342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358106	NM_003565.4(ULK1):c.1027G>A (p.Asp343Asn)	ULK1 (D343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392971	NM_003565.4(ULK1):c.1078G>A (p.Val360Ile)	ULK1 (V360I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382969	NM_003565.4(ULK1):c.1178C>T (p.Ala393Val)	ULK1 (A393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643611	NM_003565.4(ULK1):c.1179G>T (p.Ala393=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538149	NM_003565.4(ULK1):c.1252G>A (p.Ala418Thr)	ULK1 (A418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472471	NM_003565.4(ULK1):c.1259C>T (p.Pro420Leu)	ULK1 (P420L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186319	NM_003565.4(ULK1):c.1279G>A (p.Gly427Ser)	ULK1 (G427S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273788	NM_003565.4(ULK1):c.1310A>C (p.Gln437Pro)	ULK1 (Q437P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324422	NM_003565.4(ULK1):c.1324C>G (p.Gln442Glu)	ULK1 (Q442E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782569	NM_003565.4(ULK1):c.1355C>G (p.Thr452Ser)	ULK1 (T452S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257731	NM_003565.4(ULK1):c.1482G>A (p.Met494Ile)	ULK1 (M494I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186320	NM_003565.4(ULK1):c.1486C>G (p.Leu496Val)	ULK1 (L496V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294382	NM_003565.4(ULK1):c.1499G>A (p.Arg500Gln)	ULK1 (R500Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378500	NM_003565.4(ULK1):c.1540C>T (p.Arg514Trp)	ULK1 (R514W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186321	NM_003565.4(ULK1):c.1541G>A (p.Arg514Gln)	ULK1 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211255	NM_003565.4(ULK1):c.1637G>A (p.Arg546His)	LOC132090861, ULK1 (R546H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3186323	NM_003565.4(ULK1):c.1700G>A (p.Arg567His)	ULK1 (R567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731493	NM_003565.4(ULK1):c.1721C>G (p.Pro574Arg)	ULK1 (P574R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 725998	NM_003565.4(ULK1):c.1722C>G (p.Pro574=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2605884	NM_003565.4(ULK1):c.1724C>T (p.Thr575Met)	ULK1 (T575M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324559	NM_003565.4(ULK1):c.1745T>G (p.Phe582Cys)	ULK1 (F582C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768599	NM_003565.4(ULK1):c.1788G>A (p.Leu596=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186324	NM_003565.4(ULK1):c.1807C>T (p.Arg603Trp)	ULK1 (R603W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343934	NM_003565.4(ULK1):c.1841G>A (p.Arg614Gln)	ULK1 (R614Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521912	NM_003565.4(ULK1):c.1852C>T (p.Pro618Ser)	ULK1 (P618S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544436	NM_003565.4(ULK1):c.1912A>T (p.Ser638Cys)	ULK1 (S638C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601534	NM_003565.4(ULK1):c.1942C>T (p.Arg648Trp)	ULK1 (R648W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295437	NM_003565.4(ULK1):c.1975C>T (p.Arg659Trp)	ULK1 (R659W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786746	NM_003565.4(ULK1):c.1994C>T (p.Ser665Leu)	ULK1 (S665L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3186325	NM_003565.4(ULK1):c.2033G>A (p.Gly678Asp)	ULK1 (G678D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186326	NM_003565.4(ULK1):c.2039G>A (p.Arg680Gln)	ULK1 (R680Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302277	NM_003565.4(ULK1):c.2056A>C (p.Lys686Gln)	ULK1 (K686Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313476	NM_003565.4(ULK1):c.2063C>T (p.Pro688Leu)	ULK1 (P688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345661	NM_003565.4(ULK1):c.2071C>T (p.Arg691Trp)	ULK1 (R691W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186327	NM_003565.4(ULK1):c.2084C>G (p.Thr695Ser)	ULK1 (T695S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371820	NM_003565.4(ULK1):c.2089C>T (p.Arg697Cys)	ULK1 (R697C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460742	NM_003565.4(ULK1):c.2092C>T (p.Leu698Phe)	ULK1 (L698F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482661	NM_003565.4(ULK1):c.2107C>A (p.Leu703Ile)	ULK1 (L703I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186328	NM_003565.4(ULK1):c.2117C>T (p.Ala706Val)	ULK1 (A706V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241664	NM_003565.4(ULK1):c.2164G>C (p.Glu722Gln)	ULK1 (E722Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736858	NM_003565.4(ULK1):c.2183-3C>T	ULK1	Single nucleotide variant	not provided	GBenign
Select item 3186329	NM_003565.4(ULK1):c.2183C>T (p.Ala728Val)	ULK1 (A728V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186330	NM_003565.4(ULK1):c.2201G>C (p.Gly734Ala)	ULK1 (G734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282647	NM_003565.4(ULK1):c.2203G>A (p.Gly735Arg)	ULK1 (G735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240955	NM_003565.4(ULK1):c.2208C>A (p.Ser736Arg)	ULK1 (S736R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524202	NM_003565.4(ULK1):c.2218G>A (p.Gly740Arg)	ULK1 (G740R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364363	NM_003565.4(ULK1):c.2225G>A (p.Arg742His)	ULK1 (R742H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186331	NM_003565.4(ULK1):c.2228C>A (p.Ala743Asp)	ULK1 (A743D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771896	NM_003565.4(ULK1):c.2271C>A (p.Gly757=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2289519	NM_003565.4(ULK1):c.2278C>G (p.Pro760Ala)	ULK1 (P760A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046265	NM_003565.4(ULK1):c.2284G>A (p.Gly762Arg)	ULK1 (G762R)	Single nucleotide variant (missense variant)	ULK1-related disorder	GLikely benign
Select item 2643612	NM_003565.4(ULK1):c.2292G>A (p.Thr764=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359367	NM_003565.4(ULK1):c.2309G>A (p.Arg770His)	ULK1 (R770H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186332	NM_003565.4(ULK1):c.2344G>T (p.Ala782Ser)	ULK1 (A782S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293626	NM_003565.4(ULK1):c.2368G>A (p.Val790Met)	ULK1 (V790M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223435	NM_003565.4(ULK1):c.2368G>T (p.Val790Leu)	ULK1 (V790L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589348	NM_003565.4(ULK1):c.2411C>G (p.Ala804Gly)	ULK1 (A804G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469964	NM_003565.4(ULK1):c.2594G>A (p.Gly865Asp)	ULK1 (G865D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341042	NM_003565.4(ULK1):c.2599G>A (p.Ala867Thr)	ULK1 (A867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186334	NM_003565.4(ULK1):c.2612C>T (p.Ala871Val)	ULK1 (A871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325574	NM_003565.4(ULK1):c.2618G>A (p.Gly873Asp)	ULK1 (G873D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254799	NM_003565.4(ULK1):c.2653G>A (p.Asp885Asn)	ULK1 (D885N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745872	NM_003565.4(ULK1):c.2684+10G>A	ULK1	Single nucleotide variant	not provided	GLikely benign
Select item 2589316	NM_003565.4(ULK1):c.2690C>T (p.Ala897Val)	ULK1 (A897V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514929	NM_003565.4(ULK1):c.2690C>A (p.Ala897Glu)	ULK1 (A897E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315577	NM_003565.4(ULK1):c.2693A>G (p.Glu898Gly)	ULK1 (E898G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593454	NM_003565.4(ULK1):c.2726T>A (p.Leu909Gln)	ULK1 (L909Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186335	NM_003565.4(ULK1):c.2732C>G (p.Ser911Cys)	ULK1 (S911C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211030	NM_003565.4(ULK1):c.2757C>G (p.Asp919Glu)	ULK1 (D919E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718865	NM_003565.4(ULK1):c.2769C>T (p.Ala923=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786795	NM_003565.4(ULK1):c.2778C>T (p.Leu926=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484451	NM_003565.4(ULK1):c.2842G>T (p.Val948Leu)	ULK1 (V948L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186336	NM_003565.4(ULK1):c.2867G>A (p.Arg956Gln)	ULK1 (R956Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786796	NM_003565.4(ULK1):c.2871G>A (p.Leu957=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 782133	NM_003565.4(ULK1):c.2896C>A (p.Arg966=)	ULK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186337	NM_003565.4(ULK1):c.3010G>A (p.Val1004Ile)	ULK1 (V1004I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186338	NM_003565.4(ULK1):c.3065C>T (p.Ser1022Leu)	ULK1 (S1022L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic

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