PLEKHA7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	BMAL1, BTBD10 +208 more	Copy number loss	See cases	GPathogenic
Select item 3039188	NM_001329630.2(PLEKHA7):c.3669G>A (p.Pro1223=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3047626	NM_001329630.2(PLEKHA7):c.3630C>T (p.Arg1210=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3044870	NM_001329630.2(PLEKHA7):c.3555C>T (p.Tyr1185=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GBenign
Select item 2635559	NM_001329630.2(PLEKHA7):c.3357+2T>G	PLEKHA7 (V1120G +1 more)	Single nucleotide variant (missense variant +1 more)	PLEKHA7-related disorder	GLikely pathogenic
Select item 2569932	NM_001329630.2(PLEKHA7):c.3335C>T (p.Pro1112Leu)	PLEKHA7 (P1113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454956	NM_001329630.2(PLEKHA7):c.3331C>T (p.Arg1111Trp)	PLEKHA7 (R1111W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047750	NM_001329630.2(PLEKHA7):c.3303G>A (p.Thr1101=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2568575	NM_001329630.2(PLEKHA7):c.3245G>A (p.Arg1082Gln)	PLEKHA7 (R1083Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034064	NM_001329630.2(PLEKHA7):c.3219A>C (p.Ala1073=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3030062	NM_001329630.2(PLEKHA7):c.3216T>C (p.Ser1072=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3037586	NM_001329630.2(PLEKHA7):c.3189A>C (p.Ser1063=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2338704	NM_001329630.2(PLEKHA7):c.3154C>T (p.Pro1052Ser)	PLEKHA7 (P1052S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569844	NM_001329630.2(PLEKHA7):c.3149C>G (p.Thr1050Ser)	PLEKHA7 (T1051S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380692	NM_001329630.2(PLEKHA7):c.3149C>A (p.Thr1050Asn)	PLEKHA7 (T1050N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367114	NM_001329630.2(PLEKHA7):c.3115C>T (p.Arg1039Trp)	PLEKHA7 (R1039W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040172	NM_001329630.2(PLEKHA7):c.3039G>A (p.Thr1013=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2509706	NM_001329630.2(PLEKHA7):c.2983G>A (p.Gly995Arg)	PLEKHA7 (G996R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773808	NM_001329630.2(PLEKHA7):c.2934+7G>A	PLEKHA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2593296	NM_001329630.2(PLEKHA7):c.2932A>G (p.Arg978Gly)	PLEKHA7 (R978G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528696	NM_001329630.2(PLEKHA7):c.2930C>T (p.Ser977Phe)	PLEKHA7 (S978F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048143	NM_001329630.2(PLEKHA7):c.2883C>T (p.Asp961=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3054845	NM_001329630.2(PLEKHA7):c.2826A>T (p.Pro942=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2363466	NM_001329630.2(PLEKHA7):c.2816C>T (p.Pro939Leu)	PLEKHA7 (P940L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259543	NM_001329630.2(PLEKHA7):c.2779G>A (p.Glu927Lys)	PLEKHA7 (E927K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336965	NM_001329630.2(PLEKHA7):c.2728A>G (p.Lys910Glu)	PLEKHA7 (K910E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044341	NM_001329630.2(PLEKHA7):c.2670G>A (p.Pro890=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3056367	NM_001329630.2(PLEKHA7):c.2621G>A (p.Arg874Gln)	PLEKHA7 (R874Q)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GLikely benign
Select item 3344661	NM_001329630.2(PLEKHA7):c.2583G>T (p.Lys861Asn)	PLEKHA7 (K861N)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GUncertain significance
Select item 2517929	NM_001329630.2(PLEKHA7):c.2549C>T (p.Pro850Leu)	PLEKHA7 (P850L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484844	NM_001329630.2(PLEKHA7):c.2545C>T (p.His849Tyr)	PLEKHA7 (H849Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054426	NM_001329630.2(PLEKHA7):c.2529G>A (p.Thr843=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2404419	NM_001329630.2(PLEKHA7):c.2527A>G (p.Thr843Ala)	PLEKHA7 (T843A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529707	NM_001329630.2(PLEKHA7):c.2417C>T (p.Ser806Leu)	PLEKHA7 (S806L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044766	NM_001329630.2(PLEKHA7):c.2410-4T>C	PLEKHA7	Single nucleotide variant (intron variant)	PLEKHA7-related disorder	GLikely benign
Select item 3054825	NM_001329630.2(PLEKHA7):c.2409+10T>C	PLEKHA7	Single nucleotide variant (intron variant)	PLEKHA7-related disorder	GLikely benign
Select item 2208631	NM_001329630.2(PLEKHA7):c.2369A>C (p.Gln790Pro)	PLEKHA7 (Q790P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747703	NM_001329630.2(PLEKHA7):c.2331A>G (p.Glu777=)	PLEKHA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039284	NM_001329630.2(PLEKHA7):c.2326A>G (p.Asn776Asp)	PLEKHA7 (N776D)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GBenign
Select item 3214830	NM_001329630.2(PLEKHA7):c.2210G>A (p.Arg737Gln)	PLEKHA7 (R737Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217460	NM_001329630.2(PLEKHA7):c.2210G>C (p.Arg737Pro)	PLEKHA7 (R737P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686098	NM_001329630.2(PLEKHA7):c.2129A>G (p.Asp710Gly)	LOC126861150, PLEKHA7 (D710G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3307520	NM_001329630.2(PLEKHA7):c.2110G>A (p.Val704Ile)	LOC126861150, PLEKHA7 (V704I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781956	NM_001329630.2(PLEKHA7):c.2077G>A (p.Val693Ile)	LOC126861150, PLEKHA7 (V693I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3214829	NM_001329630.2(PLEKHA7):c.2072C>G (p.Thr691Ser)	LOC126861150, PLEKHA7 (T691S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214828	NM_001329630.2(PLEKHA7):c.2066G>A (p.Ser689Asn)	LOC126861150, PLEKHA7 (S689N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528122	NM_001329630.2(PLEKHA7):c.2015G>T (p.Gly672Val)	LOC126861150, PLEKHA7 (G672V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214827	NM_001329630.2(PLEKHA7):c.2008A>G (p.Met670Val)	LOC126861150, PLEKHA7 (M670V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834024	NM_001329630.2(PLEKHA7):c.1985A>G (p.Asp662Gly)	PLEKHA7 (D662G)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 3307523	NM_001329630.2(PLEKHA7):c.1889G>A (p.Arg630His)	PLEKHA7 (R630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031426	NM_001329630.2(PLEKHA7):c.1857C>T (p.His619=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2380735	NM_001329630.2(PLEKHA7):c.1832A>T (p.Asp611Val)	PLEKHA7 (D611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242446	NM_001329630.2(PLEKHA7):c.1831G>A (p.Asp611Asn)	PLEKHA7 (D611N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053128	NM_001329630.2(PLEKHA7):c.1797G>T (p.Pro599=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 3214825	NM_001329630.2(PLEKHA7):c.1753C>T (p.Arg585Trp)	PLEKHA7 (R585W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352160	NM_001329630.2(PLEKHA7):c.1713G>A (p.Ser571=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2494880	NM_001329630.2(PLEKHA7):c.1712C>T (p.Ser571Leu)	PLEKHA7 (S571L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033149	NM_001329630.2(PLEKHA7):c.1687T>A (p.Ser563Thr)	PLEKHA7 (S563T)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GLikely benign
Select item 3214824	NM_001329630.2(PLEKHA7):c.1682C>A (p.Pro561His)	PLEKHA7 (P561H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594710	NM_001329630.2(PLEKHA7):c.1658G>A (p.Arg553Gln)	PLEKHA7 (R553Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214823	NM_001329630.2(PLEKHA7):c.1657C>T (p.Arg553Trp)	PLEKHA7 (R553W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834022	NM_001329630.2(PLEKHA7):c.1631G>A (p.Gly544Asp)	PLEKHA7 (G544D)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 2520165	NM_001329630.2(PLEKHA7):c.1585C>T (p.Arg529Cys)	PLEKHA7 (R529C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264389	NM_001329630.2(PLEKHA7):c.1580A>T (p.Gln527Leu)	PLEKHA7 (Q527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712958	NM_001329630.2(PLEKHA7):c.1572C>T (p.Tyr524=)	PLEKHA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539676	NM_001329630.2(PLEKHA7):c.1547G>A (p.Arg516Gln)	PLEKHA7 (R516Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834023	NM_001329630.2(PLEKHA7):c.1537C>T (p.Arg513Trp)	PLEKHA7 (R513W)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GLikely pathogenic
Select item 2382574	NM_001329630.2(PLEKHA7):c.1534C>T (p.Arg512Cys)	PLEKHA7 (R512C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306302	NM_001329630.2(PLEKHA7):c.1468A>G (p.Asn490Asp)	PLEKHA7 (N490D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235322	NM_001329630.2(PLEKHA7):c.1456C>G (p.Pro486Ala)	PLEKHA7 (P486A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790086	NM_001329630.2(PLEKHA7):c.1455G>A (p.Ser485=)	PLEKHA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3351491	NM_001329630.2(PLEKHA7):c.1454C>T (p.Ser485Leu)	PLEKHA7 (S485L)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GUncertain significance
Select item 2404761	NM_001329630.2(PLEKHA7):c.1361C>T (p.Thr454Met)	PLEKHA7 (T454M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593507	NM_001329630.2(PLEKHA7):c.1295T>C (p.Leu432Pro)	PLEKHA7 (L432P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368818	NM_001329630.2(PLEKHA7):c.1292A>G (p.Asn431Ser)	PLEKHA7 (N431S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2471510	NM_001329630.2(PLEKHA7):c.1228G>A (p.Gly410Ser)	PLEKHA7 (G410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035834	NM_001329630.2(PLEKHA7):c.1203T>C (p.Tyr401=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2537645	NM_001329630.2(PLEKHA7):c.1199C>T (p.Ser400Leu)	PLEKHA7 (S400L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361574	NM_001329630.2(PLEKHA7):c.1184G>A (p.Gly395Glu)	PLEKHA7 (G395E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610208	NM_001329630.2(PLEKHA7):c.1177A>G (p.Lys393Glu)	PLEKHA7 (K393E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307524	NM_001329630.2(PLEKHA7):c.1171G>T (p.Ala391Ser)	PLEKHA7 (A391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307521	NM_001329630.2(PLEKHA7):c.1169G>A (p.Arg390Gln)	PLEKHA7 (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214822	NM_001329630.2(PLEKHA7):c.1105G>A (p.Glu369Lys)	PLEKHA7 (E369K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031109	NM_001329630.2(PLEKHA7):c.1098G>A (p.Ser366=)	PLEKHA7	Single nucleotide variant (synonymous variant)	PLEKHA7-related disorder	GLikely benign
Select item 2356298	NM_001329630.2(PLEKHA7):c.1073G>A (p.Arg358Gln)	PLEKHA7 (R358Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307518	NM_001329630.2(PLEKHA7):c.1067G>A (p.Arg356Gln)	PLEKHA7 (R356Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214821	NM_001329630.2(PLEKHA7):c.1048G>C (p.Asp350His)	PLEKHA7 (D350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214820	NM_001329630.2(PLEKHA7):c.1022A>T (p.Glu341Val)	PLEKHA7 (E341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214819	NM_001329630.2(PLEKHA7):c.1014G>T (p.Gln338His)	PLEKHA7 (Q338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401780	NM_001329630.2(PLEKHA7):c.980G>A (p.Arg327His)	PLEKHA7 (R327H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307525	NM_001329630.2(PLEKHA7):c.967G>C (p.Asp323His)	PLEKHA7 (D323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214837	NM_001329630.2(PLEKHA7):c.962C>T (p.Thr321Met)	PLEKHA7 (T321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060351	NM_001329630.2(PLEKHA7):c.943C>T (p.Arg315Trp)	PLEKHA7 (R315W)	Single nucleotide variant (missense variant)	PLEKHA7-related disorder	GBenign
Select item 3214833	NM_001329630.2(PLEKHA7):c.920C>T (p.Thr307Ile)	PLEKHA7 (T307I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 834027	NM_001329630.2(PLEKHA7):c.914A>T (p.Asn305Ile)	PLEKHA7 (N305I)	Single nucleotide variant (missense variant)	Cleft lip with or without cleft palate	GUncertain significance
Select item 2459819	NM_001329630.2(PLEKHA7):c.893G>A (p.Arg298Gln)	PLEKHA7 (R298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307522	NM_001329630.2(PLEKHA7):c.890A>G (p.Glu297Gly)	PLEKHA7 (E297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320103	NM_001329630.2(PLEKHA7):c.797C>T (p.Thr266Ile)	PLEKHA7 (T266I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289272	NM_001329630.2(PLEKHA7):c.770T>C (p.Met257Thr)	PLEKHA7 (M257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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