ANKRD28[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 2653603	NM_001370752.1(BTD):c.1015+23142G>A	ANKRD28, BTD	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 3124766	NM_001349278.2(ANKRD28):c.3239C>G (p.Ser1080Cys)	ANKRD28, BTD (S1050C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2486215	NM_001349278.2(ANKRD28):c.3181A>T (p.Ile1061Phe)	ANKRD28, BTD (I1028F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297025	NM_001349278.2(ANKRD28):c.3176A>G (p.Asn1059Ser)	ANKRD28, BTD (N1029S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397298	NM_001349278.2(ANKRD28):c.3140T>C (p.Ile1047Thr)	BTD, ANKRD28 (I1014T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533189	NM_001349278.2(ANKRD28):c.3134T>C (p.Leu1045Ser)	ANKRD28, BTD (L861S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124746	NM_001349278.2(ANKRD28):c.2863G>T (p.Ala955Ser)	ANKRD28, BTD (A925S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2218834	NM_001349278.2(ANKRD28):c.2860G>A (p.Ala954Thr)	ANKRD28, BTD (A770T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408019	NM_001349278.2(ANKRD28):c.2837G>A (p.Arg946Lys)	ANKRD28, BTD (R762K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124723	NM_001349278.2(ANKRD28):c.2757T>A (p.Ser919Arg)	ANKRD28, BTD (S735R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124719	NM_001349278.2(ANKRD28):c.2730T>G (p.Ser910Arg)	ANKRD28, BTD (S726R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124715	NM_001349278.2(ANKRD28):c.2639A>G (p.Asn880Ser)	ANKRD28, BTD (N696S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124708	NM_001349278.2(ANKRD28):c.2633A>C (p.Gln878Pro)	ANKRD28, BTD (Q845P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672933	NM_001349278.2(ANKRD28):c.2605T>C (p.Leu869=)	ANKRD28, BTD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3124705	NM_001349278.2(ANKRD28):c.2557G>A (p.Gly853Arg)	ANKRD28, BTD (G823R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124700	NM_001349278.2(ANKRD28):c.2548G>A (p.Asp850Asn)	ANKRD28, BTD (D820N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124699	NM_001349278.2(ANKRD28):c.2489A>G (p.Asn830Ser)	ANKRD28, BTD (N646S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470298	NM_001349278.2(ANKRD28):c.2447G>A (p.Gly816Glu)	ANKRD28, BTD (G786E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297030	NM_001349278.2(ANKRD28):c.2404G>A (p.Val802Ile)	ANKRD28, BTD (V769I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236354	NM_001349278.2(ANKRD28):c.2387A>G (p.Asn796Ser)	BTD, ANKRD28 (N766S +5 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2256691	NM_001349278.2(ANKRD28):c.2300C>G (p.Ala767Gly)	ANKRD28, BTD (A767G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521499	NM_001349278.2(ANKRD28):c.2285T>C (p.Ile762Thr)	ANKRD28, BTD (I578T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206613	NM_001349278.2(ANKRD28):c.2234G>A (p.Arg745Gln)	ANKRD28, BTD (R715Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343571	NM_001349278.2(ANKRD28):c.2224T>G (p.Cys742Gly)	ANKRD28, BTD (C558G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211168	NM_001349278.2(ANKRD28):c.2211A>C (p.Gln737His)	ANKRD28, BTD (Q704H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124671	NM_001349278.2(ANKRD28):c.1991G>A (p.Arg664Gln)	BTD, ANKRD28 (R631Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2364080	NM_001349278.2(ANKRD28):c.1918T>G (p.Leu640Val)	ANKRD28, BTD (L456V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397255	NM_001349278.2(ANKRD28):c.1798G>C (p.Val600Leu)	ANKRD28, BTD (V416L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297034	NM_001349278.2(ANKRD28):c.1766A>G (p.Tyr589Cys)	ANKRD28, BTD (Y405C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124657	NM_001349278.2(ANKRD28):c.1736C>G (p.Ala579Gly)	ANKRD28, BTD (A493G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602492	NM_001349278.2(ANKRD28):c.1658T>C (p.Leu553Pro)	ANKRD28, BTD (L523P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124647	NM_001349278.2(ANKRD28):c.1624T>G (p.Ser542Ala)	ANKRD28, BTD (S542A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526608	NM_001349278.2(ANKRD28):c.1592G>T (p.Arg531Leu)	ANKRD28, BTD (R347L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124641	NM_001349278.2(ANKRD28):c.1588A>T (p.Ile530Phe)	ANKRD28, BTD (I346F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484618	NM_001349278.2(ANKRD28):c.1586G>A (p.Gly529Glu)	ANKRD28, BTD (G532E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297013	NM_001349278.2(ANKRD28):c.1559A>G (p.Tyr520Cys)	ANKRD28, BTD (Y336C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3341569	NM_001349278.2(ANKRD28):c.1542T>C (p.Asp514=)	ANKRD28, BTD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3124636	NM_001349278.2(ANKRD28):c.1423G>A (p.Ala475Thr)	ANKRD28, BTD (A442T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393345	NM_001349278.2(ANKRD28):c.1363C>G (p.Leu455Val)	ANKRD28, BTD (L369V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2355531	NM_001349278.2(ANKRD28):c.1271C>T (p.Ser424Leu)	ANKRD28, BTD (S338L +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3297036	NM_001349278.2(ANKRD28):c.1247A>T (p.Asp416Val)	ANKRD28, BTD (D330V +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457386	NM_001349278.2(ANKRD28):c.1225G>T (p.Ala409Ser)	ANKRD28, BTD (A379S +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2343993	NM_001349278.2(ANKRD28):c.1180G>A (p.Asp394Asn)	ANKRD28, BTD (D364N +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297032	NM_001349278.2(ANKRD28):c.1169C>T (p.Thr390Ile)	ANKRD28, BTD (T357I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3297031	NM_001349278.2(ANKRD28):c.1144G>A (p.Glu382Lys)	ANKRD28, BTD (E352K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124610	NM_001349278.2(ANKRD28):c.1133G>A (p.Arg378Gln)	ANKRD28, BTD (R345Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244901	NM_001349278.2(ANKRD28):c.1126G>A (p.Ala376Thr)	ANKRD28, BTD (A346T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509026	NM_001349278.2(ANKRD28):c.974A>T (p.Asn325Ile)	ANKRD28, BTD (N328I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124832	NM_001349278.2(ANKRD28):c.913C>T (p.Pro305Ser)	ANKRD28, BTD (P275S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124830	NM_001349278.2(ANKRD28):c.905G>A (p.Gly302Glu)	ANKRD28, BTD (G305E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287809	NM_001349278.2(ANKRD28):c.866T>C (p.Ile289Thr)	ANKRD28, BTD (I292T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298916	NM_001349278.2(ANKRD28):c.836A>G (p.Asn279Ser)	ANKRD28, BTD (N249S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368502	NM_001349278.2(ANKRD28):c.793C>T (p.Pro265Ser)	ANKRD28, BTD (P265S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653604	NM_001370752.1(BTD):c.1029C>T (p.Val343=)	ANKRD28, BTD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3124807	NM_001349278.2(ANKRD28):c.731C>T (p.Ala244Val)	ANKRD28 (A211V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124799	NM_001349278.2(ANKRD28):c.671C>T (p.Ser224Leu)	ANKRD28 (S191L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124790	NM_001349278.2(ANKRD28):c.571T>C (p.Ser191Pro)	ANKRD28 (S158P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124778	NM_001349278.2(ANKRD28):c.503G>A (p.Arg168Gln)	ANKRD28 (R138Q +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3124772	NM_001349278.2(ANKRD28):c.468G>C (p.Leu156Phe)	ANKRD28 (L126F +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2371014	NM_001349278.2(ANKRD28):c.437C>G (p.Ala146Gly)	ANKRD28 (A116G +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2240069	NM_001349278.2(ANKRD28):c.367C>G (p.Leu123Val)	ANKRD28 (L37V +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3124728	NM_001349278.2(ANKRD28):c.362A>G (p.Gln121Arg)	ANKRD28 (Q88R +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2482053	NM_001349278.2(ANKRD28):c.271A>C (p.Ile91Leu)	ANKRD28 (I61L +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2653605	NM_001349278.2(ANKRD28):c.228C>T (p.His76=)	ANKRD28 (T14M)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2398230	NM_001349278.2(ANKRD28):c.215G>A (p.Arg72Gln)	ANKRD28 (E10K +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3297035	NM_001349278.2(ANKRD28):c.203A>T (p.Asp68Val)	ANKRD28 (D35V +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2271610	NM_001349278.2(ANKRD28):c.136A>G (p.Ile46Val)	ANKRD28 (I13V +3 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 152453	GRCh38/hg38 3p25.1(chr3:15806288-16201982)x3	ANKRD28, GALNT15 +10 more	Copy number gain	See cases	GLikely benign
Select item 3297033	NM_015199.4(ANKRD28):c.5C>A (p.Ala2Glu)	ANKRD28 (A2E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 980628	GRCh37/hg19 3p25.1(chr3:15822766-16235835)x3	GALNT15, ANKRD28	Copy number gain	not provided	GLikely benign
Select item 688733	GRCh37/hg19 3p25.1-24.3(chr3:15752529-16524171)x3	ANKRD28, DPH3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 562759	GRCh37/hg19 3p25.1(chr3:15648003-16355532)x3	ANKRD28, BTD +3 more	Copy number gain	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 95