24134[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 145626	GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1	C16orf95, C16orf95-DT +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 151023	GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1	C16orf95, C16orf95-DT +39 more	Copy number loss	See cases	GUncertain significance
Select item 146290	GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1	C16orf95, C16orf95-DT +42 more	Copy number loss	See cases	GLikely pathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 147332	GRCh38/hg38 16q24.2(chr16:87223779-87440975)x1	C16orf95, C16orf95-DT +13 more	Copy number loss	See cases	GUncertain significance
Select item 146319	GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1	C16orf95, C16orf95-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 155590	GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1	C16orf95, C16orf95-DT +33 more	Copy number loss	See cases	GUncertain significance
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 154655	GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1	FBXO31, JPH3 +29 more	Copy number loss	See cases	GUncertain significance
Select item 3192505	NM_015144.3(ZCCHC14):c.3202C>T (p.Pro1068Ser)	ZCCHC14 (P1068S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770258	NM_015144.3(ZCCHC14):c.3144C>T (p.Cys1048=)	ZCCHC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3334140	NM_015144.3(ZCCHC14):c.3101G>A (p.Gly1034Asp)	ZCCHC14 (G1034D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290509	NM_015144.3(ZCCHC14):c.3085G>A (p.Val1029Met)	ZCCHC14 (V1029M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313952	NM_015144.3(ZCCHC14):c.3080G>T (p.Gly1027Val)	ZCCHC14 (G1027V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293895	NM_015144.3(ZCCHC14):c.3074C>T (p.Thr1025Ile)	ZCCHC14 (T1025I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301886	NM_015144.3(ZCCHC14):c.3025G>A (p.Val1009Met)	ZCCHC14 (V1009M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334138	NM_015144.3(ZCCHC14):c.3022G>A (p.Ala1008Thr)	ZCCHC14 (A1008T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238246	NM_015144.3(ZCCHC14):c.3017C>T (p.Thr1006Met)	ZCCHC14 (T1006M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542825	NM_015144.3(ZCCHC14):c.2989C>T (p.Pro997Ser)	ZCCHC14 (P997S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192503	NM_015144.3(ZCCHC14):c.2956G>C (p.Val986Leu)	ZCCHC14 (V986L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334129	NM_015144.3(ZCCHC14):c.2938G>A (p.Gly980Ser)	ZCCHC14 (G980S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192502	NM_015144.3(ZCCHC14):c.2935G>A (p.Gly979Ser)	ZCCHC14 (G979S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297356	NM_015144.3(ZCCHC14):c.2917G>A (p.Val973Ile)	ZCCHC14 (V973I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646956	NM_015144.3(ZCCHC14):c.2910C>T (p.Ser970=)	ZCCHC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192501	NM_015144.3(ZCCHC14):c.2834A>G (p.Asn945Ser)	ZCCHC14 (N945S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290508	NM_015144.3(ZCCHC14):c.2812G>T (p.Gly938Cys)	ZCCHC14 (G938C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609622	NM_015144.3(ZCCHC14):c.2809A>G (p.Ser937Gly)	ZCCHC14 (S937G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290855	NM_015144.3(ZCCHC14):c.2795G>A (p.Gly932Asp)	ZCCHC14 (G932D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592449	NM_015144.3(ZCCHC14):c.2756C>T (p.Pro919Leu)	ZCCHC14 (P919L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334134	NM_015144.3(ZCCHC14):c.2725C>T (p.Pro909Ser)	ZCCHC14 (P909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493899	NM_015144.3(ZCCHC14):c.2687C>T (p.Ser896Leu)	ZCCHC14 (S896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192500	NM_015144.3(ZCCHC14):c.2681C>A (p.Pro894His)	ZCCHC14 (P894H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718956	NM_015144.3(ZCCHC14):c.2655C>A (p.Gly885=)	ZCCHC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3334136	NM_015144.3(ZCCHC14):c.2645G>A (p.Ser882Asn)	ZCCHC14 (S882N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481405	NM_015144.3(ZCCHC14):c.2618C>T (p.Ser873Phe)	ZCCHC14 (S873F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547406	NM_015144.3(ZCCHC14):c.2576C>T (p.Thr859Met)	ZCCHC14 (T859M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260273	NM_015144.3(ZCCHC14):c.2575A>T (p.Thr859Ser)	ZCCHC14 (T859S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350527	NM_015144.3(ZCCHC14):c.2528C>G (p.Thr843Ser)	ZCCHC14 (T843S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380274	NM_015144.3(ZCCHC14):c.2525A>G (p.Asn842Ser)	ZCCHC14 (N842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266589	NM_015144.3(ZCCHC14):c.2504G>T (p.Gly835Val)	ZCCHC14 (G835V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317792	NM_015144.3(ZCCHC14):c.2443A>G (p.Thr815Ala)	ZCCHC14 (T815A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328281	NM_015144.3(ZCCHC14):c.2350G>A (p.Ala784Thr)	ZCCHC14 (A784T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553242	NM_015144.3(ZCCHC14):c.2314C>T (p.Pro772Ser)	ZCCHC14 (P772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553241	NM_015144.3(ZCCHC14):c.2312G>T (p.Arg771Leu)	ZCCHC14 (R771L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386146	NM_015144.3(ZCCHC14):c.2312G>A (p.Arg771His)	ZCCHC14 (R771H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390126	NM_015144.3(ZCCHC14):c.2308G>A (p.Ala770Thr)	ZCCHC14 (A770T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539447	NM_015144.3(ZCCHC14):c.2297T>A (p.Val766Asp)	ZCCHC14 (V766D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519920	NM_015144.3(ZCCHC14):c.2279C>T (p.Thr760Met)	ZCCHC14 (T760M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464229	NM_015144.3(ZCCHC14):c.2270C>T (p.Thr757Met)	ZCCHC14 (T757M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334135	NM_015144.3(ZCCHC14):c.2267G>A (p.Ser756Asn)	ZCCHC14 (S756N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593001	NM_015144.3(ZCCHC14):c.2213C>T (p.Thr738Met)	ZCCHC14 (T738M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516163	NM_015144.3(ZCCHC14):c.2207C>G (p.Ala736Gly)	ZCCHC14 (A736G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385587	NM_015144.3(ZCCHC14):c.2204A>G (p.His735Arg)	ZCCHC14 (H735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392552	NM_015144.3(ZCCHC14):c.2200G>A (p.Val734Met)	ZCCHC14 (V734M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297061	NM_015144.3(ZCCHC14):c.2158T>A (p.Ser720Thr)	ZCCHC14 (S720T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192495	NM_015144.3(ZCCHC14):c.2110G>A (p.Ala704Thr)	ZCCHC14 (A704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192494	NM_015144.3(ZCCHC14):c.2105C>T (p.Ala702Val)	ZCCHC14 (A702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192493	NM_015144.3(ZCCHC14):c.2083G>A (p.Ala695Thr)	ZCCHC14 (A695T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355505	NM_015144.3(ZCCHC14):c.1948G>A (p.Val650Met)	ZCCHC14 (V650M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192492	NM_015144.3(ZCCHC14):c.1942A>T (p.Asn648Tyr)	ZCCHC14 (N648Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192491	NM_015144.3(ZCCHC14):c.1934G>A (p.Arg645His)	ZCCHC14 (R645H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537572	NM_015144.3(ZCCHC14):c.1877G>T (p.Gly626Val)	ZCCHC14 (G626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255657	NM_015144.3(ZCCHC14):c.1805T>A (p.Phe602Tyr)	ZCCHC14 (F602Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326484	NM_015144.3(ZCCHC14):c.1801C>T (p.His601Tyr)	ZCCHC14 (H601Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275979	NM_015144.3(ZCCHC14):c.1701G>T (p.Gln567His)	ZCCHC14 (Q567H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334137	NM_015144.3(ZCCHC14):c.1691T>C (p.Met564Thr)	ZCCHC14 (M564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192490	NM_015144.3(ZCCHC14):c.1670C>A (p.Ser557Tyr)	ZCCHC14 (S557Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646957	NM_015144.3(ZCCHC14):c.1572C>T (p.Pro524=)	ZCCHC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334131	NM_015144.3(ZCCHC14):c.1508C>T (p.Ser503Leu)	ZCCHC14 (S503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192488	NM_015144.3(ZCCHC14):c.1493G>A (p.Arg498Gln)	ZCCHC14 (R498Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334667	NM_015144.3(ZCCHC14):c.1277G>C (p.Ser426Thr)	ZCCHC14 (S426T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529109	NM_015144.3(ZCCHC14):c.1235G>A (p.Arg412Gln)	ZCCHC14 (R412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395088	NM_015144.3(ZCCHC14):c.1219T>C (p.Ser407Pro)	ZCCHC14 (S407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249599	NM_015144.3(ZCCHC14):c.1213G>A (p.Ala405Thr)	ZCCHC14 (A405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550508	NM_015144.3(ZCCHC14):c.1210A>G (p.Ser404Gly)	ZCCHC14 (S404G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192506	NM_015144.3(ZCCHC14):c.1180G>A (p.Ala394Thr)	ZCCHC14 (A394T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779971	NM_015144.3(ZCCHC14):c.1166C>T (p.Pro389Leu)	ZCCHC14 (P389L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2379125	NM_015144.3(ZCCHC14):c.1133C>T (p.Ser378Leu)	ZCCHC14 (S378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259160	NM_015144.3(ZCCHC14):c.1075G>C (p.Gly359Arg)	ZCCHC14 (G359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334133	NM_015144.3(ZCCHC14):c.1057C>G (p.Pro353Ala)	ZCCHC14 (P353A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526304	NM_015144.3(ZCCHC14):c.1043C>A (p.Pro348Gln)	ZCCHC14 (P348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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