7777[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 2397961	NM_173165.3(NFATC3):c.58G>A (p.Glu20Lys)	LOC130059267, NFATC3 (E20K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3196873	NM_173165.3(NFATC3):c.89G>A (p.Gly30Asp)	LOC130059267, NFATC3 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299498	NM_173165.3(NFATC3):c.176C>T (p.Pro59Leu)	NFATC3 (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205804	NM_173165.3(NFATC3):c.182G>A (p.Cys61Tyr)	NFATC3 (C61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196734	NM_173165.3(NFATC3):c.193C>T (p.His65Tyr)	NFATC3 (H65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196748	NM_173165.3(NFATC3):c.203C>T (p.Pro68Leu)	NFATC3 (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313289	NM_173165.3(NFATC3):c.247C>T (p.His83Tyr)	NFATC3 (H83Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788366	NM_173165.3(NFATC3):c.412C>T (p.Arg138Trp)	NFATC3 (R138W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3196836	NM_173165.3(NFATC3):c.424G>C (p.Glu142Gln)	NFATC3 (E142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299496	NM_173165.3(NFATC3):c.430C>T (p.Pro144Ser)	NFATC3 (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312072	NM_173165.3(NFATC3):c.437G>C (p.Arg146Thr)	NFATC3 (R146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363259	NM_173165.3(NFATC3):c.472C>T (p.Arg158Trp)	NFATC3 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196848	NM_173165.3(NFATC3):c.566A>G (p.Tyr189Cys)	NFATC3 (Y189C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307394	NM_173165.3(NFATC3):c.611C>T (p.Thr204Ile)	NFATC3 (T204I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303851	NM_173165.3(NFATC3):c.676C>T (p.His226Tyr)	NFATC3 (H226Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299497	NM_173165.3(NFATC3):c.689G>T (p.Gly230Val)	NFATC3 (G230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196862	NM_173165.3(NFATC3):c.737G>A (p.Arg246Lys)	NFATC3 (R246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364112	NM_173165.3(NFATC3):c.781T>C (p.Ser261Pro)	NFATC3 (S261P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782312	NM_173165.3(NFATC3):c.816G>A (p.Gly272=)	NFATC3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2493578	NM_173165.3(NFATC3):c.877C>A (p.Pro293Thr)	NFATC3 (P293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196879	NM_173165.3(NFATC3):c.917C>T (p.Thr306Ile)	NFATC3 (T306I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494771	NM_173165.3(NFATC3):c.994G>C (p.Val332Leu)	NFATC3 (V332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196691	NM_173165.3(NFATC3):c.1048A>G (p.Ile350Val)	NFATC3 (I350V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384274	NM_173165.3(NFATC3):c.1105C>T (p.Arg369Trp)	NFATC3 (R369W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2328091	NM_173165.3(NFATC3):c.1106G>A (p.Arg369Gln)	NFATC3 (R369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559928	NM_173165.3(NFATC3):c.1402C>T (p.Leu468Phe)	NFATC3 (L468F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255858	NM_173165.3(NFATC3):c.1416C>G (p.Asn472Lys)	NFATC3 (N472K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368999	NM_173165.3(NFATC3):c.1426A>G (p.Ile476Val)	NFATC3 (I476V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232611	NM_173165.3(NFATC3):c.1430A>G (p.Asn477Ser)	NFATC3 (N477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299495	NM_173165.3(NFATC3):c.1545T>G (p.Ile515Met)	NFATC3 (I515M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315873	NM_173165.3(NFATC3):c.1631G>A (p.Arg544His)	NFATC3 (R544H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358513	NM_173165.3(NFATC3):c.1759A>G (p.Ile587Val)	NFATC3 (I587V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398717	NM_173165.3(NFATC3):c.1804A>G (p.Ile602Val)	NFATC3 (I602V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196722	NM_173165.3(NFATC3):c.1816A>G (p.Ser606Gly)	NFATC3 (S606G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292560	NM_173165.3(NFATC3):c.1817G>C (p.Ser606Thr)	NFATC3 (S606T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301581	NM_173165.3(NFATC3):c.1835T>C (p.Val612Ala)	NFATC3 (V612A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299500	NM_173165.3(NFATC3):c.1844G>A (p.Gly615Asp)	NFATC3 (G615D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545130	NM_173165.3(NFATC3):c.1922G>A (p.Arg641Gln)	NFATC3 (R641Q)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 3299499	NM_173165.3(NFATC3):c.1930T>C (p.Trp644Arg)	NFATC3 (W644R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229058	NM_173165.3(NFATC3):c.1957G>A (p.Glu653Lys)	NFATC3 (E653K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196738	NM_173165.3(NFATC3):c.1958A>G (p.Glu653Gly)	NFATC3 (E653G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196742	NM_173165.3(NFATC3):c.1964G>A (p.Cys655Tyr)	NFATC3 (C655Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274744	NM_173165.3(NFATC3):c.2017A>G (p.Thr673Ala)	NFATC3 (T673A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608507	NM_173165.3(NFATC3):c.2086A>G (p.Thr696Ala)	NFATC3 (T696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592949	NM_173165.3(NFATC3):c.2161C>T (p.Pro721Ser)	NFATC3 (P721S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196757	NM_173165.3(NFATC3):c.2198C>T (p.Ser733Leu)	NFATC3 (S733L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646650	NM_173165.3(NFATC3):c.2208A>T (p.Ser736=)	NFATC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301413	NM_173165.3(NFATC3):c.2225C>T (p.Ser742Leu)	NFATC3 (S742L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212244	NM_173165.3(NFATC3):c.2251A>G (p.Ile751Val)	NFATC3 (I751V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274745	NM_173165.3(NFATC3):c.2276T>C (p.Val759Ala)	NFATC3 (V759A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359856	NM_173165.3(NFATC3):c.2353A>G (p.Ile785Val)	NFATC3 (I785V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3196770	NM_173165.3(NFATC3):c.2413A>G (p.Met805Val)	NFATC3 (M805V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372980	NM_173165.3(NFATC3):c.2477A>T (p.Glu826Val)	NFATC3 (E826V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410649	NM_173165.3(NFATC3):c.2509A>G (p.Thr837Ala)	NFATC3 (T837A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268341	NM_173165.3(NFATC3):c.2584A>G (p.Thr862Ala)	NFATC3 (T862A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209765	NM_173165.3(NFATC3):c.2644A>G (p.Met882Val)	NFATC3 (M882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196785	NM_173165.3(NFATC3):c.2698G>A (p.Asp900Asn)	NFATC3 (D900N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398109	NM_173165.3(NFATC3):c.2719T>C (p.Ser907Pro)	NFATC3 (S907P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 707956	NM_173165.3(NFATC3):c.2733A>C (p.Gln911His)	NFATC3 (Q911H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3196791	NM_173165.3(NFATC3):c.2738T>C (p.Ile913Thr)	NFATC3 (I913T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392220	NM_173165.3(NFATC3):c.2827C>G (p.Pro943Ala)	NFATC3 (P943A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788367	NM_173165.3(NFATC3):c.2829A>G (p.Pro943=)	NFATC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2515028	NM_173165.3(NFATC3):c.2845C>G (p.Pro949Ala)	NFATC3 (P949A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281736	NM_173165.3(NFATC3):c.2887C>G (p.Pro963Ala)	NFATC3 (P963A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615040	NM_173165.3(NFATC3):c.2912C>A (p.Ser971Tyr)	NFATC3 (S971Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508371	NM_173165.3(NFATC3):c.2918A>G (p.Gln973Arg)	NFATC3 (Q973R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196809	NM_173165.3(NFATC3):c.2986A>C (p.Ser996Arg)	NFATC3 (S996R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234601	NM_173165.3(NFATC3):c.3025A>G (p.Thr1009Ala)	NFATC3 (T1009A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196820	NM_173165.3(NFATC3):c.3026C>T (p.Thr1009Ile)	NFATC3 (T1009I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196826	NM_173165.3(NFATC3):c.3034A>G (p.Ile1012Val)	NFATC3 (I1012V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293658	NM_173165.3(NFATC3):c.3056G>T (p.Arg1019Leu)	NFATC3 (R1019L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196830	NM_173165.3(NFATC3):c.3185C>T (p.Pro1062Leu)	NFATC3 (P1062L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 980684	GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1	TSNAXIP1, PSMB10 +15 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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