ANKMY1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
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 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 2652090	NM_001282771.3(ANKMY1):c.3027C>T (p.Cys1009=)	ANKMY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2225558	NM_001282771.3(ANKMY1):c.2951C>T (p.Pro984Leu)	ANKMY1 (P481L +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 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 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 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 2209559	NM_001282771.3(ANKMY1):c.2713C>T (p.Arg905Trp)	ANKMY1 (R488W +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568846	NM_001282771.3(ANKMY1):c.2708G>A (p.Arg903Gln)	ANKMY1 (R767Q +17 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 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 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 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 2212516	NM_001282771.3(ANKMY1):c.2554G>A (p.Asp852Asn)	ANKMY1 (D448N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711875	NM_001282771.3(ANKMY1):c.2553C>T (p.Ala851=)	ANKMY1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 2248258	NM_001282771.3(ANKMY1):c.2351G>A (p.Gly784Asp)	ANKMY1 (G418D +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 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 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 2225557	NM_001282771.3(ANKMY1):c.2235G>C (p.Glu745Asp)	ANKMY1 (E515D +7 more)	Single nucleotide variant (missense variant +2 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 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 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 2229294	NM_001282771.3(ANKMY1):c.2141G>T (p.Gly714Val)	ANKMY1 (G484V +9 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 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 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 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 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 2254836	NM_001282771.3(ANKMY1):c.1735G>T (p.Ala579Ser)	ANKMY1 (A260S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221921	NM_001282771.3(ANKMY1):c.1712C>T (p.Ser571Leu)	ANKMY1 (S294L +11 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 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 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 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 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 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 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 778053	NM_001282771.3(ANKMY1):c.1479C>T (p.Arg493=)	ANKMY1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2230175	NM_001282771.3(ANKMY1):c.1376C>T (p.Ser459Leu)	ANKMY1 (S182L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403010	NM_001282771.3(ANKMY1):c.1304A>G (p.Asn435Ser)	ANKMY1 (N407S +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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