ClinVar for Gene (Select 51281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296094	NM_001282771.3(ANKMY1):c.1313A>T (p.Glu438Val)	ANKMY1 (E119V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296085	NM_001282771.3(ANKMY1):c.1292C>T (p.Ser431Phe)	ANKMY1 (S201F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296074	NM_001282771.3(ANKMY1):c.770C>T (p.Pro257Leu)	ANKMY1 (P168L +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3296043	NM_001282771.3(ANKMY1):c.2483T>C (p.Leu828Pro)	ANKMY1 (L325P +12 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3274073	NM_001370465.2(DUSP28):c.364C>T (p.Arg122Cys)	ANKMY1, DUSP28 +1 more (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274072	NM_001370465.2(DUSP28):c.356T>C (p.Met119Thr)	ANKMY1, DUSP28 +1 more (M119T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3274071	NM_001370465.2(DUSP28):c.178G>A (p.Ala60Thr)	ANKMY1, DUSP28 (A30V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274069	NM_001370465.2(DUSP28):c.229G>A (p.Asp77Asn)	ANKMY1, DUSP28 (D77N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3121880	NM_001282771.3(ANKMY1):c.845G>A (p.Arg282His)	ANKMY1 (R254H +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3121874	NM_001282771.3(ANKMY1):c.755A>G (p.Asn252Ser)	ANKMY1 (N224S +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3121870	NM_001282771.3(ANKMY1):c.745C>A (p.Leu249Met)	ANKMY1 (L160M +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3121861	NM_001282771.3(ANKMY1):c.2962G>A (p.Gly988Arg)	ANKMY1 (G584R +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121853	NM_001282771.3(ANKMY1):c.2935C>T (p.Arg979Cys)	ANKMY1 (R613C +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121848	NM_001282771.3(ANKMY1):c.515G>A (p.Gly172Asp)	ANKMY1 (G144D +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3121822	NM_001282771.3(ANKMY1):c.2618A>G (p.Tyr873Cys)	ANKMY1 (Y469C +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121808	NM_001282771.3(ANKMY1):c.2468G>A (p.Cys823Tyr)	ANKMY1 (C421Y +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121791	NM_001282771.3(ANKMY1):c.2306G>A (p.Arg769Gln)	ANKMY1 (R441Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3121783	NM_001282771.3(ANKMY1):c.2200G>C (p.Ala734Pro)	ANKMY1 (A504P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121774	NM_001282771.3(ANKMY1):c.454A>G (p.Met152Val)	ANKMY1 (M105V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121765	NM_001282771.3(ANKMY1):c.2065A>C (p.Ile689Leu)	ANKMY1 (I370L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121758	NM_001282771.3(ANKMY1):c.2012C>T (p.Thr671Ile)	ANKMY1 (T352I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121756	NM_001282771.3(ANKMY1):c.1996C>A (p.Pro666Thr)	ANKMY1 (P249T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121752	NM_001282771.3(ANKMY1):c.1870C>T (p.Arg624Cys)	ANKMY1 (R207C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121748	NM_001282771.3(ANKMY1):c.1693G>A (p.Asp565Asn)	ANKMY1 (D145N +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3121746	NM_001282771.3(ANKMY1):c.1664C>T (p.Thr555Met)	ANKMY1 (T188M +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121743	NM_001282771.3(ANKMY1):c.393G>T (p.Trp131Cys)	ANKMY1 (W103C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121740	NM_001282771.3(ANKMY1):c.1525T>C (p.Cys509Arg)	ANKMY1 (C142R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121732	NM_001282771.3(ANKMY1):c.1285G>A (p.Ala429Thr)	ANKMY1 (A401T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086309	NM_001370465.2(DUSP28):c.34G>A (p.Ala12Thr)	ANKMY1, DUSP28 (A12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086307	NM_001370465.2(DUSP28):c.337G>C (p.Val113Leu)	ANKMY1, DUSP28 +1 more (V113L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3086306	NM_001370465.2(DUSP28):c.214G>A (p.Asp72Asn)	ANKMY1, DUSP28 (S18L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086305	NM_001370465.2(DUSP28):c.122C>G (p.Ala41Gly)	ANKMY1, DUSP28 +1 more (A49P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2681244	NM_001282771.3(ANKMY1):c.1463C>A (p.Pro488Gln)	ANKMY1 (P121Q +9 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2652090	NM_001282771.3(ANKMY1):c.3027C>T (p.Cys1009=)	ANKMY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2618451	NM_001282771.3(ANKMY1):c.389T>G (p.Met130Arg)	ANKMY1 (M130R +5 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2613809	NM_001370465.2(DUSP28):c.341G>A (p.Cys114Tyr)	ANKMY1, DUSP28 +1 more (C114Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611919	NM_001282771.3(ANKMY1):c.2303T>C (p.Val768Ala)	ANKMY1 (V632A +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597829	NM_001370465.2(DUSP28):c.208G>A (p.Val70Met)	ANKMY1, DUSP28 (V70M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596459	NM_001282771.3(ANKMY1):c.287G>T (p.Gly96Val)	ANKMY1 (G68V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2591111	NM_001370465.2(DUSP28):c.329C>T (p.Ser110Leu)	ANKMY1, DUSP28 +1 more (S110L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569789	NM_001282771.3(ANKMY1):c.1573C>G (p.Pro525Ala)	ANKMY1 (P436A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568846	NM_001282771.3(ANKMY1):c.2708G>A (p.Arg903Gln)	ANKMY1 (R436Q +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567181	NM_001282771.3(ANKMY1):c.1480G>A (p.Val494Ile)	ANKMY1 (V217I +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2552877	NM_001282771.3(ANKMY1):c.2744G>A (p.Arg915Gln)	ANKMY1 (R498Q +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547639	NM_001370465.2(DUSP28):c.347C>T (p.Ala116Val)	ANKMY1, DUSP28 +1 more (A116V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2547358	NM_001370465.2(DUSP28):c.70C>A (p.Pro24Thr)	ANKMY1, DUSP28 (P24T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2539496	NM_001282771.3(ANKMY1):c.2056G>A (p.Gly686Arg)	ANKMY1 (G269R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536054	NM_001370465.2(DUSP28):c.236T>C (p.Leu79Pro)	ANKMY1, DUSP28 (L79P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518538	NM_001282771.3(ANKMY1):c.3052C>A (p.Gln1018Lys)	ANKMY1 (Q1018K +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515960	NM_001282771.3(ANKMY1):c.1774C>T (p.Pro592Ser)	ANKMY1 (P233S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511360	NM_001282771.3(ANKMY1):c.2228C>T (p.Pro743Leu)	ANKMY1 (P415L +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490917	NM_001282771.3(ANKMY1):c.437G>A (p.Arg146Gln)	ANKMY1 (R57Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488011	NM_001282771.3(ANKMY1):c.1609G>A (p.Gly537Arg)	ANKMY1 (G117R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481267	NM_001282771.3(ANKMY1):c.2375T>C (p.Ile792Thr)	ANKMY1 (I464T +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481177	NM_001370465.2(DUSP28):c.356T>A (p.Met119Lys)	ANKMY1, DUSP28 +1 more (M1L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2470552	NM_001282771.3(ANKMY1):c.1831G>A (p.Glu611Lys)	ANKMY1 (E334K +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467160	NM_001282771.3(ANKMY1):c.2395G>A (p.Val799Ile)	ANKMY1 (V296I +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2466786	NM_001282771.3(ANKMY1):c.2807C>T (p.Ala936Val)	ANKMY1 (A749V +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2463718	NM_001370465.2(DUSP28):c.359G>C (p.Arg120Pro)	ANKMY1, DUSP28 +1 more (R120P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456007	NM_001282771.3(ANKMY1):c.1633A>G (p.Thr545Ala)	ANKMY1 (T125A +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 2403553	NM_001282771.3(ANKMY1):c.2323G>A (p.Gly775Arg)	ANKMY1 (G686R +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2403010	NM_001282771.3(ANKMY1):c.1304A>G (p.Asn435Ser)	ANKMY1 (N407S +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2401857	NM_001282771.3(ANKMY1):c.2266G>A (p.Glu756Lys)	ANKMY1 (E437K +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2399711	NM_001282771.3(ANKMY1):c.2617T>G (p.Tyr873Asp)	ANKMY1 (Y427D +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395174	NM_001370465.2(DUSP28):c.163C>A (p.Gln55Lys)	ANKMY1, DUSP28 (C35F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386645	NM_001370465.2(DUSP28):c.38C>T (p.Ser13Leu)	ANKMY1, DUSP28 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380970	NM_001282771.3(ANKMY1):c.1250C>T (p.Thr417Met)	ANKMY1 (T140M +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378629	NM_001282771.3(ANKMY1):c.2506A>G (p.Met836Val)	ANKMY1 (M476V +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2375977	NM_001282771.3(ANKMY1):c.2679G>A (p.Met893Ile)	ANKMY1 (M447I +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374675	NM_001282771.3(ANKMY1):c.413C>T (p.Thr138Met)	ANKMY1 (T49M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2371136	NM_001282771.3(ANKMY1):c.2104G>A (p.Ala702Thr)	ANKMY1 (A551T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366173	NM_001282771.3(ANKMY1):c.2197C>G (p.Gln733Glu)	ANKMY1 (Q405E +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366098	NM_001282771.3(ANKMY1):c.1019C>T (p.Ala340Val)	ANKMY1 (A312V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358219	NM_001282771.3(ANKMY1):c.914C>G (p.Pro305Arg)	ANKMY1 (P216R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2357469	NM_001370465.2(DUSP28):c.19G>A (p.Gly7Arg)	ANKMY1, DUSP28 (G7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357222	NM_001282771.3(ANKMY1):c.520G>A (p.Glu174Lys)	ANKMY1 (E174K +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2346391	NM_001282771.3(ANKMY1):c.836T>C (p.Leu279Pro)	ANKMY1 (L190P +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2323075	NM_001282771.3(ANKMY1):c.713A>T (p.Asp238Val)	ANKMY1 (D210V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2320829	NM_001282771.3(ANKMY1):c.1590C>G (p.Ser530Arg)	ANKMY1 (S253R +9 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316562	NM_001370465.2(DUSP28):c.53C>A (p.Pro18Gln)	ANKMY1, DUSP28 (P18Q +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2312915	NM_001282771.3(ANKMY1):c.1942G>A (p.Val648Met)	ANKMY1 (V231M +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312356	NM_001282771.3(ANKMY1):c.329C>T (p.Thr110Ile)	ANKMY1 (T110I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312355	NM_001282771.3(ANKMY1):c.318C>G (p.Phe106Leu)	ANKMY1 (F78L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2299474	NM_001282771.3(ANKMY1):c.2921G>C (p.Arg974Pro)	ANKMY1 (R570P +14 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296334	NM_001282771.3(ANKMY1):c.2689C>T (p.Arg897Cys)	ANKMY1 (R480C +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278731	NM_001282771.3(ANKMY1):c.1807C>T (p.Arg603Trp)	ANKMY1 (R183W +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276868	NM_001282771.3(ANKMY1):c.3064G>A (p.Val1022Ile)	ANKMY1 (V1022I +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273797	NM_001282771.3(ANKMY1):c.1972G>C (p.Gly658Arg)	ANKMY1 (G381R +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263183	NM_001282771.3(ANKMY1):c.275A>G (p.Gln92Arg)	ANKMY1 (Q171R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign

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