PLEKHA5[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 115

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
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 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 3054631	NM_001256470.2(PLEKHA5):c.10G>A (p.Asp4Asn)	PLEKHA5 (D4N)	Single nucleotide variant (missense variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 2642769	NM_001256470.2(PLEKHA5):c.30C>T (p.Ile10=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder +1 more	GLikely benign
Select item 2338905	NM_001256470.2(PLEKHA5):c.85A>G (p.Ile29Val)	PLEKHA5 (I29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054146	NM_001256470.2(PLEKHA5):c.111C>T (p.Thr37=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 2336430	NM_001256470.2(PLEKHA5):c.410A>G (p.His137Arg)	PLEKHA5 (H137R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052458	NM_001256470.2(PLEKHA5):c.433-6A>G	PLEKHA5	Single nucleotide variant (intron variant)	PLEKHA5-related disorder	GBenign
Select item 2536076	NM_001256470.2(PLEKHA5):c.442G>C (p.Ala148Pro)	PLEKHA5 (A148P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214789	NM_001256470.2(PLEKHA5):c.457C>T (p.His153Tyr)	PLEKHA5 (H45Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	ABCC9, AEBP2 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 2318898	NM_001256470.2(PLEKHA5):c.644T>A (p.Leu215Gln)	PLEKHA5 (L215Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329427	NM_001256470.2(PLEKHA5):c.860C>T (p.Thr287Ile)	PLEKHA5 (T138I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781698	NM_001256470.2(PLEKHA5):c.909A>G (p.Arg303=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder +1 more	GBenign
Select item 3045403	NM_001256470.2(PLEKHA5):c.910G>A (p.Val304Met)	PLEKHA5 (V141M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 3214791	NM_001256470.2(PLEKHA5):c.971A>G (p.Glu324Gly)	PLEKHA5 (E161G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044941	NM_001256470.2(PLEKHA5):c.1056G>T (p.Leu352=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 3034315	NM_001256470.2(PLEKHA5):c.1133G>A (p.Ser378Asn)	PLEKHA5 (S215N +5 more)	Single nucleotide variant (missense variant +1 more)	PLEKHA5-related disorder	GBenign
Select item 3057185	NM_001256470.2(PLEKHA5):c.1160T>C (p.Val387Ala)	PLEKHA5 (V224A +5 more)	Single nucleotide variant (missense variant +1 more)	PLEKHA5-related disorder	GBenign
Select item 3056093	NM_001256470.2(PLEKHA5):c.1162A>G (p.Ser388Gly)	PLEKHA5 (S225G +5 more)	Single nucleotide variant (missense variant +1 more)	PLEKHA5-related disorder	GBenign
Select item 2483173	NM_001256470.2(PLEKHA5):c.1190G>A (p.Arg397His)	PLEKHA5 (R234H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3214774	NM_001256470.2(PLEKHA5):c.1208T>C (p.Leu403Ser)	PLEKHA5 (L254S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 834029	NM_001256470.2(PLEKHA5):c.1249A>G (p.Met417Val)	PLEKHA5 (M411V +5 more)	Single nucleotide variant (missense variant +1 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2291258	NM_001256470.2(PLEKHA5):c.1355A>T (p.His452Leu)	PLEKHA5 (H344L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047277	NM_001256470.2(PLEKHA5):c.1476C>T (p.Pro492=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 3214775	NM_001256470.2(PLEKHA5):c.1501A>G (p.Met501Val)	PLEKHA5 (M387V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214776	NM_001256470.2(PLEKHA5):c.1531G>A (p.Glu511Lys)	PLEKHA5 (E397K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237517	NM_001256470.2(PLEKHA5):c.1553A>G (p.Tyr518Cys)	PLEKHA5 (Y410C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402278	NM_001256470.2(PLEKHA5):c.1615A>C (p.Ile539Leu)	PLEKHA5 (I376L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2609826	NM_001256470.2(PLEKHA5):c.1639A>T (p.Ile547Phe)	PLEKHA5 (I433F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214777	NM_001256470.2(PLEKHA5):c.1645A>C (p.Thr549Pro)	PLEKHA5 (T435P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 834036	NM_001256470.2(PLEKHA5):c.1660G>A (p.Gly554Arg)	PLEKHA5 (G548R +5 more)	Single nucleotide variant (missense variant +2 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 3214778	NM_001256470.2(PLEKHA5):c.1669G>A (p.Ala557Thr)	PLEKHA5 (A394T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601288	NM_001256470.2(PLEKHA5):c.1697G>A (p.Arg566Gln)	PLEKHA5 (R417Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214779	NM_001256470.2(PLEKHA5):c.1714G>A (p.Val572Met)	PLEKHA5 (V464M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 834028	NM_001256470.2(PLEKHA5):c.1787A>G (p.Tyr596Cys)	PLEKHA5 (Y596C +6 more)	Single nucleotide variant (missense variant +2 more)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 2547880	NM_001256470.2(PLEKHA5):c.1792C>A (p.Pro598Thr)	PLEKHA5 (P435T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606372	NM_001256470.2(PLEKHA5):c.1840C>A (p.Pro614Thr)	PLEKHA5 (P500T +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 816927	NM_001256470.2(PLEKHA5):c.1855G>C (p.Gly619Arg)	PLEKHA5 (G613R +6 more)	Single nucleotide variant (missense variant +2 more)	Bilateral cleft lip	GUncertain significance
Select item 2552650	NM_001256470.2(PLEKHA5):c.1991T>G (p.Ile664Ser)	PLEKHA5 (I550S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 719840	NM_001256470.2(PLEKHA5):c.2052A>G (p.Glu684=)	PLEKHA5	Single nucleotide variant (synonymous variant +2 more)	PLEKHA5-related disorder +1 more	GBenign/Likely benign
Select item 3054097	NM_001256470.2(PLEKHA5):c.2218-9A>G	PLEKHA5	Single nucleotide variant (intron variant)	PLEKHA5-related disorder	GLikely benign
Select item 3214780	NM_001256470.2(PLEKHA5):c.2231G>T (p.Arg744Leu)	PLEKHA5 (R498L +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299037	NM_001256470.2(PLEKHA5):c.2356A>T (p.Asn786Tyr)	PLEKHA5 (N518Y +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214782	NM_001256470.2(PLEKHA5):c.2420C>T (p.Thr807Met)	PLEKHA5 (T614M +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593381	NM_001256470.2(PLEKHA5):c.2438G>A (p.Arg813Gln)	PLEKHA5 (R620Q +22 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3043469	NM_001256470.2(PLEKHA5):c.2448C>T (p.Ala816=)	PLEKHA5	Single nucleotide variant (synonymous variant +2 more)	PLEKHA5-related disorder	GLikely benign
Select item 2286040	NM_001256470.2(PLEKHA5):c.2470G>C (p.Glu824Gln)	PLEKHA5 (E563Q +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214783	NM_001256470.2(PLEKHA5):c.2517G>C (p.Met839Ile)	PLEKHA5 (M646I +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214784	NM_001256470.2(PLEKHA5):c.2530G>T (p.Asp844Tyr)	PLEKHA5 (D633Y +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514250	NM_001256470.2(PLEKHA5):c.2551A>G (p.Thr851Ala)	PLEKHA5 (T583A +27 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039301	NM_001256470.2(PLEKHA5):c.2622G>A (p.Gly874=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GBenign
Select item 2556970	NM_001256470.2(PLEKHA5):c.2630A>C (p.Lys877Thr)	PLEKHA5 (K631T +27 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214785	NM_001256470.2(PLEKHA5):c.2660T>C (p.Ile887Thr)	PLEKHA5 (I619T +27 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2361505	NM_001256470.2(PLEKHA5):c.2665A>G (p.Met889Val)	PLEKHA5 (M628V +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043095	NM_001256470.2(PLEKHA5):c.2842C>T (p.Pro948Ser)	PLEKHA5 (P737S +12 more)	Single nucleotide variant (missense variant +2 more)	PLEKHA5-related disorder	GLikely benign
Select item 3057812	NM_001256470.2(PLEKHA5):c.2893C>T (p.His965Tyr)	PLEKHA5 (H754Y +12 more)	Single nucleotide variant (missense variant +2 more)	PLEKHA5-related disorder	GBenign
Select item 834030	NM_001256470.2(PLEKHA5):c.3044T>G (p.Val1015Gly)	PLEKHA5 (V1015G +37 more)	Single nucleotide variant (missense variant +1 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2465504	NM_001256470.2(PLEKHA5):c.3049C>T (p.Pro1017Ser)	PLEKHA5 (P686S +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340792	NM_001256470.2(PLEKHA5):c.3064C>A (p.Pro1022Thr)	PLEKHA5 (P1010T +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545221	NM_001256470.2(PLEKHA5):c.3068C>T (p.Thr1023Ile)	PLEKHA5 (T1023I +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 834035	NM_001256470.2(PLEKHA5):c.3119A>T (p.Lys1040Met)	PLEKHA5 (K1040M +37 more)	Single nucleotide variant (missense variant +1 more)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2337520	NM_001256470.2(PLEKHA5):c.3291C>A (p.Asp1097Glu)	PLEKHA5 (D1022E +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343202	NM_001256470.2(PLEKHA5):c.3338G>C (p.Arg1113Thr)	PLEKHA5 (R1057T +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046007	NM_001256470.2(PLEKHA5):c.3406C>G (p.Pro1136Ala)	PLEKHA5 (P1009A +37 more)	Single nucleotide variant (missense variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 2354344	NM_001256470.2(PLEKHA5):c.3412C>T (p.His1138Tyr)	PLEKHA5 (H1035Y +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642770	NM_001256470.2(PLEKHA5):c.3453C>T (p.Thr1151=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3044730	NM_001256470.2(PLEKHA5):c.3507A>G (p.Ser1169=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 2496526	NM_001256470.2(PLEKHA5):c.3571A>G (p.Arg1191Gly)	PLEKHA5 (R1020G +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214786	NM_001256470.2(PLEKHA5):c.3590C>T (p.Pro1197Leu)	PLEKHA5 (P1003L +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039532	NM_001256470.2(PLEKHA5):c.3608+6A>G	PLEKHA5	Single nucleotide variant (intron variant)	PLEKHA5-related disorder	GLikely benign
Select item 2366427	NM_001256470.2(PLEKHA5):c.3610C>T (p.Pro1204Ser)	PLEKHA5 (P1004S +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277790	NM_001256470.2(PLEKHA5):c.3631G>A (p.Ala1211Thr)	PLEKHA5 (A1018T +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3049202	NM_001256470.2(PLEKHA5):c.3645A>G (p.Pro1215=)	PLEKHA5	Single nucleotide variant (synonymous variant +1 more)	PLEKHA5-related disorder	GLikely benign
Select item 2470978	NM_001256470.2(PLEKHA5):c.3712G>A (p.Glu1238Lys)	PLEKHA5 (E1003K +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268295	NM_001256470.2(PLEKHA5):c.3721C>T (p.Pro1241Ser)	PLEKHA5 (P1042S +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369181	NM_001256470.2(PLEKHA5):c.3724G>A (p.Glu1242Lys)	PLEKHA5 (E1007K +37 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287404	NM_001256470.2(PLEKHA5):c.3773C>T (p.Ser1258Phe)	PLEKHA5 (S1059F +37 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3039205	NM_001256470.2(PLEKHA5):c.3777T>G (p.Pro1259=)	PLEKHA5	Single nucleotide variant (synonymous variant +2 more)	PLEKHA5-related disorder	GLikely benign
Select item 3214787	NM_001256470.2(PLEKHA5):c.3785C>T (p.Ser1262Leu)	PLEKHA5 (S1027L +37 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3214788	NM_001256470.2(PLEKHA5):c.3817C>T (p.Leu1273Phe)	PLEKHA5 (L1038F +37 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	GYS2, KCNJ8 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527691	GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)	AEBP2, GOLT1B +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527690	GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899)	AEBP2, PDE3A +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic

<< First< Prev

Page of 2