ANKRD44[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 2470758	NM_001195144.2(ANKRD44):c.2962G>A (p.Ala988Thr)	ANKRD44 (A988T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210915	NM_001195144.2(ANKRD44):c.2931G>T (p.Arg977Ser)	ANKRD44 (R977S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126729	NM_001195144.2(ANKRD44):c.2929A>G (p.Arg977Gly)	ANKRD44 (R977G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126726	NM_001195144.2(ANKRD44):c.2875G>A (p.Glu959Lys)	ANKRD44 (E977K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126722	NM_001195144.2(ANKRD44):c.2869G>T (p.Val957Leu)	ANKRD44 (V957L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238685	NM_001195144.2(ANKRD44):c.2854A>G (p.Asn952Asp)	ANKRD44 (N952D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126717	NM_001195144.2(ANKRD44):c.2852G>A (p.Arg951His)	ANKRD44 (R969H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361665	NM_001195144.2(ANKRD44):c.2849C>T (p.Ala950Val)	ANKRD44 (A950V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624311	NM_001195144.2(ANKRD44):c.2734T>G (p.Leu912Val)	ANKRD44 (L887V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265548	NM_001195144.2(ANKRD44):c.2705A>C (p.Lys902Thr)	ANKRD44 (K877T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570202	NM_001195144.2(ANKRD44):c.2678A>G (p.Asn893Ser)	ANKRD44 (N868S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336035	NM_001195144.2(ANKRD44):c.2524C>T (p.Pro842Ser)	ANKRD44 (P860S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515996	NM_001195144.2(ANKRD44):c.2494G>A (p.Val832Ile)	ANKRD44 (V807I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367469	NM_001195144.2(ANKRD44):c.2467C>G (p.Leu823Val)	ANKRD44 (L798V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311181	NM_001195144.2(ANKRD44):c.2321C>T (p.Thr774Met)	ANKRD44 (T792M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457174	NM_001195144.2(ANKRD44):c.2213C>T (p.Thr738Met)	ANKRD44 (T738M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311965	NM_001195144.2(ANKRD44):c.2135T>C (p.Met712Thr)	ANKRD44 (M687T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204982	NM_001195144.2(ANKRD44):c.2053G>A (p.Ala685Thr)	ANKRD44 (A660T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126681	NM_001195144.2(ANKRD44):c.2047A>G (p.Ile683Val)	ANKRD44 (I658V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322889	NM_001195144.2(ANKRD44):c.2038T>C (p.Tyr680His)	ANKRD44 (Y698H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322614	NM_001195144.2(ANKRD44):c.1987G>C (p.Val663Leu)	ANKRD44 (V681L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126665	NM_001195144.2(ANKRD44):c.1979C>T (p.Pro660Leu)	ANKRD44 (P635L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307797	NM_001195144.2(ANKRD44):c.1931A>G (p.Asn644Ser)	ANKRD44 (N662S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312957	NM_001195144.2(ANKRD44):c.1723G>T (p.Ala575Ser)	ANKRD44 (A550S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477263	NM_001195144.2(ANKRD44):c.1720G>T (p.Ala574Ser)	ANKRD44 (A549S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526806	NM_001195144.2(ANKRD44):c.1621G>C (p.Ala541Pro)	ANKRD44 (A516P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380628	NM_001195144.2(ANKRD44):c.1583G>A (p.Arg528Gln)	ANKRD44 (R503Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126647	NM_001195144.2(ANKRD44):c.1582C>T (p.Arg528Trp)	ANKRD44 (R528W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610237	NM_001195144.2(ANKRD44):c.1535C>T (p.Thr512Ile)	ANKRD44 (T487I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328742	NM_001195144.2(ANKRD44):c.1489T>C (p.Ser497Pro)	ANKRD44 (S472P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204282	NM_001195144.2(ANKRD44):c.1463C>T (p.Thr488Ile)	ANKRD44 (T463I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341974	NM_001195144.2(ANKRD44):c.1445A>G (p.Asp482Gly)	ANKRD44 (D457G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387420	NM_001195144.2(ANKRD44):c.1414C>T (p.Arg472Cys)	ANKRD44 (R490C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264290	NM_001195144.2(ANKRD44):c.1390G>A (p.Val464Ile)	ANKRD44 (V482I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290137	NM_001195144.2(ANKRD44):c.1384G>T (p.Ala462Ser)	ANKRD44 (A480S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067112	NM_001195144.2(ANKRD44):c.1317-1308T>C	ANKRD44	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with hypotonia, seizures, and absent language	GLikely pathogenic
Select item 2617538	NM_001195144.2(ANKRD44):c.1308G>C (p.Lys436Asn)	ANKRD44 (K411N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288258	NM_001195144.2(ANKRD44):c.1261A>G (p.Ile421Val)	ANKRD44 (I396V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510344	NM_001195144.2(ANKRD44):c.870A>T (p.Glu290Asp)	ANKRD44 (E290D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356257	NM_001195144.2(ANKRD44):c.784G>A (p.Gly262Ser)	ANKRD44 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400078	NM_001195144.2(ANKRD44):c.737C>T (p.Ala246Val)	ANKRD44 (A246V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550781	NM_001195144.2(ANKRD44):c.608A>G (p.Asp203Gly)	ANKRD44 (D203G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126751	NM_001195144.2(ANKRD44):c.599C>T (p.Thr200Ile)	ANKRD44 (T200I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331315	NM_001195144.2(ANKRD44):c.560A>T (p.Asp187Val)	ANKRD44 (D187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593163	NM_001195144.2(ANKRD44):c.548T>C (p.Met183Thr)	ANKRD44 (M183T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319968	NM_001195144.2(ANKRD44):c.521G>A (p.Arg174Gln)	ANKRD44 (R174Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 2310945	NM_001195144.2(ANKRD44):c.435C>A (p.His145Gln)	ANKRD44 (H145Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289893	NM_001195144.2(ANKRD44):c.247G>T (p.Ala83Ser)	ANKRD44 (A83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613514	NM_001195144.2(ANKRD44):c.233T>C (p.Leu78Pro)	ANKRD44 (L78P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252775	NM_001195144.2(ANKRD44):c.200T>C (p.Val67Ala)	ANKRD44 (V67A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273395	NM_001195144.2(ANKRD44):c.10C>T (p.Leu4Phe)	ANKRD44, LOC129935352 (L4F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126756	NM_001195144.2(ANKRD44):c.5C>G (p.Ala2Gly)	ANKRD44, LOC129935352 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2685871	GRCh37/hg19 2q32.3-33.1(chr2:197241559-198122706)x3	ANKRD44, C2orf66 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1808369	GRCh37/hg19 2q33.1(chr2:197704153-198552092)x3	ANKRD44, COQ10B +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526941	GRCh37/hg19 2q33.1(chr2:198057503-198461454)	ANKRD44, COQ10B +5 more	Copy number gain	not specified	GUncertain significance
Select item 1526940	GRCh37/hg19 2q33.1(chr2:197586481-200793870)	ANKRD44, BOLL +16 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983310	GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1	BOLL, C2orf66 +20 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562614	GRCh37/hg19 2q32.3-33.1(chr2:197322697-198094657)x3	GTF3C3, ANKRD44 +4 more	Copy number gain	not provided	GLikely benign
Select item 562551	GRCh37/hg19 2q33.1(chr2:198000249-198236704)x3	ANKRD44	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic

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Items: 90