ClinVar for Gene (Select 225689) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293217	NM_139021.3(MAPK15):c.1537G>T (p.Gly513Cys)	MAPK15 (G513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293214	NM_139021.3(MAPK15):c.496C>G (p.Pro166Ala)	MAPK15 (P166A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293213	NM_139021.3(MAPK15):c.535G>A (p.Ala179Thr)	MAPK15 (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293212	NM_139021.3(MAPK15):c.638G>C (p.Arg213Pro)	MAPK15 (R213P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293211	NM_139021.3(MAPK15):c.601A>G (p.Met201Val)	MAPK15 (M201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293210	NM_139021.3(MAPK15):c.1592C>T (p.Ser531Leu)	MAPK15 (S531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293209	NM_139021.3(MAPK15):c.1107C>G (p.His369Gln)	MAPK15 (H369Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293208	NM_139021.3(MAPK15):c.127A>G (p.Lys43Glu)	MAPK15 (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293207	NM_139021.3(MAPK15):c.1429G>A (p.Gly477Ser)	MAPK15 (G477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293206	NM_139021.3(MAPK15):c.187C>A (p.Leu63Ile)	MAPK15 (L63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293205	NM_139021.3(MAPK15):c.166A>C (p.Arg56=)	MAPK15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3123262	NM_139021.3(MAPK15):c.910G>A (p.Val304Met)	MAPK15 (V304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123260	NM_139021.3(MAPK15):c.658G>A (p.Gly220Ser)	MAPK15 (G220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123259	NM_139021.3(MAPK15):c.640G>A (p.Gly214Arg)	MAPK15 (G214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123258	NM_139021.3(MAPK15):c.485T>A (p.Leu162Gln)	MAPK15 (L162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123257	NM_139021.3(MAPK15):c.451G>C (p.Val151Leu)	MAPK15 (V151L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123256	NM_139021.3(MAPK15):c.368G>A (p.Arg123Gln)	MAPK15 (R123Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123255	NM_139021.3(MAPK15):c.235G>C (p.Val79Leu)	MAPK15 (V79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123254	NM_139021.3(MAPK15):c.1412G>T (p.Gly471Val)	MAPK15 (G471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123252	NM_139021.3(MAPK15):c.1295G>A (p.Gly432Glu)	MAPK15 (G432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123251	NM_139021.3(MAPK15):c.119C>T (p.Ala40Val)	MAPK15 (A40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123250	NM_139021.3(MAPK15):c.1078G>A (p.Gly360Ser)	MAPK15 (G360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123249	NM_139021.3(MAPK15):c.1070G>C (p.Gly357Ala)	MAPK15 (G357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123248	NM_139021.3(MAPK15):c.1058C>T (p.Ser353Leu)	MAPK15 (S353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123247	NM_139021.3(MAPK15):c.1051G>A (p.Gly351Ser)	MAPK15 (G351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123246	NM_139021.3(MAPK15):c.1006C>T (p.Arg336Cys)	MAPK15 (R336C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024737	NM_139021.3(MAPK15):c.1154G>A (p.Gly385Asp)	MAPK15 (G385D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658906	NM_139021.3(MAPK15):c.1117G>C (p.Ala373Pro)	MAPK15 (A373P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658905	NM_139021.3(MAPK15):c.106G>A (p.Gly36Ser)	MAPK15 (G36S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600817	NM_139021.3(MAPK15):c.704C>T (p.Pro235Leu)	MAPK15 (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595339	NM_139021.3(MAPK15):c.344G>C (p.Arg115Pro)	MAPK15 (R115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595138	NM_139021.3(MAPK15):c.1256T>C (p.Leu419Pro)	MAPK15 (L419P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588724	NM_139021.3(MAPK15):c.1424G>A (p.Arg475Gln)	MAPK15 (R475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556016	NM_139021.3(MAPK15):c.673C>T (p.His225Tyr)	MAPK15 (H225Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542789	NM_139021.3(MAPK15):c.1622G>A (p.Gly541Glu)	MAPK15 (G541E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536969	NM_139021.3(MAPK15):c.934G>A (p.Asp312Asn)	MAPK15 (D312N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529455	NM_139021.3(MAPK15):c.64G>A (p.Gly22Arg)	MAPK15 (G22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520420	NM_139021.3(MAPK15):c.407G>C (p.Arg136Pro)	MAPK15 (R136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520177	NM_139021.3(MAPK15):c.319G>A (p.Gly107Ser)	MAPK15 (G107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517980	NM_139021.3(MAPK15):c.785G>A (p.Arg262Gln)	MAPK15 (R262Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479727	NM_139021.3(MAPK15):c.875G>C (p.Arg292Pro)	MAPK15 (R292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410124	NM_139021.3(MAPK15):c.1468C>T (p.Arg490Trp)	MAPK15 (R490W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400152	NM_139021.3(MAPK15):c.358C>A (p.Gln120Lys)	MAPK15 (Q120K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386980	NM_139021.3(MAPK15):c.848G>A (p.Arg283Gln)	MAPK15 (R283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386278	NM_139021.3(MAPK15):c.115G>A (p.Val39Met)	MAPK15 (V39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385254	NM_139021.3(MAPK15):c.947G>A (p.Arg316Gln)	MAPK15 (R316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380340	NM_139021.3(MAPK15):c.1012C>T (p.Arg338Cys)	MAPK15 (R338C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376526	NM_139021.3(MAPK15):c.406C>G (p.Arg136Gly)	MAPK15 (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364111	NM_139021.3(MAPK15):c.1307C>T (p.Ala436Val)	MAPK15 (A436V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354014	NM_139021.3(MAPK15):c.340G>A (p.Val114Met)	MAPK15 (V114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352889	NM_139021.3(MAPK15):c.1486C>T (p.Arg496Trp)	MAPK15 (R496W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352576	NM_139021.3(MAPK15):c.1120G>A (p.Asp374Asn)	MAPK15 (D374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344595	NM_139021.3(MAPK15):c.664T>A (p.Ser222Thr)	MAPK15 (S222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344268	NM_139021.3(MAPK15):c.1496G>A (p.Arg499Gln)	MAPK15 (R499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340999	NM_139021.3(MAPK15):c.874C>T (p.Arg292Trp)	MAPK15 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335164	NM_139021.3(MAPK15):c.1305A>T (p.Glu435Asp)	MAPK15 (E435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303361	NM_139021.3(MAPK15):c.1139G>A (p.Arg380Lys)	MAPK15 (R380K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277861	NM_139021.3(MAPK15):c.785G>C (p.Arg262Pro)	MAPK15 (R262P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265870	NM_139021.3(MAPK15):c.1231C>T (p.Pro411Ser)	MAPK15 (P411S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251064	NM_139021.3(MAPK15):c.305T>C (p.Val102Ala)	MAPK15 (V102A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250761	NM_139021.3(MAPK15):c.1357C>G (p.Pro453Ala)	MAPK15 (P453A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239235	NM_139021.3(MAPK15):c.311G>A (p.Arg104Gln)	MAPK15 (R104Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230473	NM_139021.3(MAPK15):c.251A>C (p.Asn84Thr)	MAPK15 (N84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220862	NM_139021.3(MAPK15):c.296T>C (p.Leu99Pro)	MAPK15 (L99P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212137	NM_139021.3(MAPK15):c.866C>T (p.Pro289Leu)	MAPK15 (P289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527472	GRCh37/hg19 8q24.3(chr8:144725942-145508436)	BOP1, CCDC166 +22 more	Copy number gain	not specified	GUncertain significance
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic
Select item 1411704	NC_000008.10:g.(?_143822561)_(145743168_?)dup	ADCK5, BOP1 +66 more	Duplication	Holoprosencephaly sequence	GUncertain significance
Select item 979858	GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3	ADCK5, ARHGAP39 +69 more	Copy number gain	not provided	GLikely pathogenic
Select item 815178	GRCh37/hg19 8q24.3(chr8:144754114-144857373)x1	ZNF707, MAPK15 +2 more	Copy number loss	not provided	GLikely benign
Select item 815175	GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1	ADGRB1, ARC +37 more	Copy number loss	not provided	GPathogenic
Select item 815173	GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1	ADGRB1, ARC +62 more	Copy number loss	not provided	GPathogenic
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 787880	NM_139021.3(MAPK15):c.575C>A (p.Ser192Ter)	MAPK15 (S192*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687148	GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3	ADCK5, ARHGAP39 +70 more	Copy number gain	not provided	GUncertain significance
Select item 686463	GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	not provided	GPathogenic
Select item 686106	GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3	ADCK5, ADGRB1 +99 more	Copy number gain	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 563531	GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3	ZFP41, ZFTRAF1 +80 more	Copy number gain	not provided	GPathogenic
Select item 523293	GRCh37/hg19 8q24.3(chr8:142840194-146280020)	CYP11B1, KIFC2 +86 more	Copy number gain	Intellectual disability	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442205	GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3	ADCK5, ADGRB1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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