ANKRD27[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 3124570	NM_032139.3(ANKRD27):c.3058C>G (p.Arg1020Gly)	ANKRD27 (R1020G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124566	NM_032139.3(ANKRD27):c.2995A>T (p.Asn999Tyr)	ANKRD27 (N999Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306142	NM_032139.3(ANKRD27):c.2971G>A (p.Gly991Arg)	ANKRD27 (G991R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2294100	NM_032139.3(ANKRD27):c.2890C>G (p.Pro964Ala)	ANKRD27 (P964A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476438	NM_032139.3(ANKRD27):c.2855C>T (p.Thr952Ile)	ANKRD27 (T952I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295505	NM_032139.3(ANKRD27):c.2768G>C (p.Trp923Ser)	ANKRD27 (W923S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595843	NM_032139.3(ANKRD27):c.2641G>A (p.Asp881Asn)	ANKRD27 (D881N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523068	NM_032139.3(ANKRD27):c.2624G>A (p.Arg875Gln)	ANKRD27 (R875Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211837	NM_032139.3(ANKRD27):c.2578G>A (p.Glu860Lys)	ANKRD27 (E860K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361231	NM_032139.3(ANKRD27):c.2575G>A (p.Val859Ile)	ANKRD27 (V859I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124541	NM_032139.3(ANKRD27):c.2396C>T (p.Ser799Leu)	ANKRD27 (S799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271002	NM_032139.3(ANKRD27):c.2381A>C (p.Lys794Thr)	ANKRD27 (K794T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124535	NM_032139.3(ANKRD27):c.2281C>T (p.Pro761Ser)	ANKRD27 (P761S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124532	NM_032139.3(ANKRD27):c.2270C>T (p.Ala757Val)	ANKRD27 (A757V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259513	NM_032139.3(ANKRD27):c.2267G>C (p.Arg756Pro)	ANKRD27 (R756P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215649	NM_032139.3(ANKRD27):c.2261A>G (p.His754Arg)	ANKRD27 (H754R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124521	NM_032139.3(ANKRD27):c.2255C>T (p.Ala752Val)	ANKRD27 (A752V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124517	NM_032139.3(ANKRD27):c.2254G>T (p.Ala752Ser)	ANKRD27 (A752S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521472	NM_032139.3(ANKRD27):c.2240C>T (p.Pro747Leu)	ANKRD27 (P747L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649682	NM_032139.3(ANKRD27):c.2222G>A (p.Ser741Asn)	ANKRD27 (S741N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2522182	NM_032139.3(ANKRD27):c.2215G>A (p.Val739Met)	ANKRD27 (V739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297747	NM_032139.3(ANKRD27):c.2176A>G (p.Arg726Gly)	ANKRD27 (R726G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124505	NM_032139.3(ANKRD27):c.2138C>T (p.Pro713Leu)	ANKRD27 (P713L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649683	NM_032139.3(ANKRD27):c.2121C>T (p.Asp707=)	ANKRD27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2537692	NM_032139.3(ANKRD27):c.2062C>G (p.Leu688Val)	ANKRD27 (L688V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608946	NM_032139.3(ANKRD27):c.2053G>T (p.Val685Leu)	ANKRD27 (V685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507900	NM_032139.3(ANKRD27):c.1913C>T (p.Ser638Phe)	ANKRD27 (S638F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291982	NM_032139.3(ANKRD27):c.1910G>T (p.Arg637Leu)	ANKRD27 (R637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124489	NM_032139.3(ANKRD27):c.1883C>T (p.Ser628Phe)	ANKRD27 (S628F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334265	NM_032139.3(ANKRD27):c.1882T>C (p.Ser628Pro)	ANKRD27 (S628P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124479	NM_032139.3(ANKRD27):c.1879T>A (p.Ser627Thr)	ANKRD27 (S627T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534852	NM_032139.3(ANKRD27):c.1879T>C (p.Ser627Pro)	ANKRD27 (S627P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313523	NM_032139.3(ANKRD27):c.1869G>C (p.Arg623Ser)	ANKRD27 (R623S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322977	NM_032139.3(ANKRD27):c.1721G>A (p.Arg574His)	ANKRD27 (R574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124475	NM_032139.3(ANKRD27):c.1709A>G (p.His570Arg)	ANKRD27 (H570R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494240	NM_032139.3(ANKRD27):c.1664C>T (p.Ser555Leu)	ANKRD27 (S555L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124471	NM_032139.3(ANKRD27):c.1651T>C (p.Tyr551His)	ANKRD27 (Y551H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124470	NM_032139.3(ANKRD27):c.1648T>C (p.Tyr550His)	ANKRD27 (Y550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290536	NM_032139.3(ANKRD27):c.1639G>T (p.Ala547Ser)	ANKRD27 (A547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124467	NM_032139.3(ANKRD27):c.1592C>T (p.Thr531Met)	ANKRD27 (T531M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288104	NM_032139.3(ANKRD27):c.1567G>C (p.Glu523Gln)	ANKRD27 (E523Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391626	NM_032139.3(ANKRD27):c.1565C>T (p.Ala522Val)	ANKRD27 (A522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511317	NM_032139.3(ANKRD27):c.1564G>T (p.Ala522Ser)	ANKRD27 (A522S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298596	NM_032139.3(ANKRD27):c.1423C>G (p.Gln475Glu)	ANKRD27 (Q475E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298320	NM_032139.3(ANKRD27):c.1403A>T (p.His468Leu)	ANKRD27 (H468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266324	NM_032139.3(ANKRD27):c.1364C>T (p.Thr455Ile)	ANKRD27 (T455I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124452	NM_032139.3(ANKRD27):c.1344G>C (p.Leu448Phe)	ANKRD27 (L448F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124446	NM_032139.3(ANKRD27):c.1216G>C (p.Ala406Pro)	ANKRD27 (A406P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598521	NM_032139.3(ANKRD27):c.1112C>G (p.Pro371Arg)	ANKRD27 (P371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325501	NM_032139.3(ANKRD27):c.1016G>T (p.Arg339Met)	ANKRD27 (R339M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589118	NM_032139.3(ANKRD27):c.1004T>C (p.Ile335Thr)	ANKRD27 (I335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550209	NM_032139.3(ANKRD27):c.967A>G (p.Thr323Ala)	ANKRD27 (T323A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237101	NM_032139.3(ANKRD27):c.890C>G (p.Ser297Cys)	ANKRD27 (S297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283918	NM_032139.3(ANKRD27):c.812T>C (p.Leu271Pro)	ANKRD27 (L271P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232783	NM_032139.3(ANKRD27):c.809A>G (p.Glu270Gly)	ANKRD27 (E270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588415	NM_032139.3(ANKRD27):c.691A>G (p.Met231Val)	ANKRD27 (M231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272718	NM_032139.3(ANKRD27):c.682G>C (p.Val228Leu)	ANKRD27 (V228L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296079	NM_032139.3(ANKRD27):c.634G>C (p.Val212Leu)	ANKRD27 (V212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410762	NM_032139.3(ANKRD27):c.626A>G (p.Lys209Arg)	ANKRD27 (K209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204980	NM_032139.3(ANKRD27):c.580C>A (p.His194Asn)	ANKRD27 (H194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216016	NM_032139.3(ANKRD27):c.477C>G (p.Phe159Leu)	ANKRD27 (F159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215664	NM_032139.3(ANKRD27):c.448G>A (p.Glu150Lys)	ANKRD27 (E150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124573	NM_032139.3(ANKRD27):c.305A>G (p.Asn102Ser)	ANKRD27 (N102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406279	NM_032139.3(ANKRD27):c.118A>G (p.Lys40Glu)	ANKRD27 (K40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124438	NM_032139.3(ANKRD27):c.100A>C (p.Ile34Leu)	ANKRD27 (I34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482255	NM_032139.3(ANKRD27):c.62G>A (p.Arg21His)	ANKRD27 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 1526661	GRCh37/hg19 19q13.11(chr19:33146131-33251180)	ANKRD27, NUDT19 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 82