RBM44[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	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 148337	GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1	GBX2, GBX2-AS1 +180 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 148764	GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1	ACKR3, AGAP1 +144 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	LOC122889013, LOC122889014 +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 58938	GRCh38/hg38 2q37.3(chr2:237643996-238287366)x3	ERFE, ESPNL +42 more	Copy number gain	See cases	GUncertain significance
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 3313290	NM_001080504.3(RBM44):c.49A>G (p.Ser17Gly)	RBM44 (S17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309575	NM_001080504.3(RBM44):c.52A>G (p.Asn18Asp)	RBM44 (N18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59178	GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3	ASB1, COPS9 +102 more	Copy number gain	See cases	GPathogenic
Select item 2269510	NM_001080504.3(RBM44):c.119A>G (p.Asn40Ser)	RBM44 (N40S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2332015	NM_001080504.3(RBM44):c.166T>A (p.Ser56Thr)	RBM44 (S56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337428	NM_001080504.3(RBM44):c.289A>G (p.Ser97Gly)	RBM44 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313292	NM_001080504.3(RBM44):c.344C>T (p.Pro115Leu)	RBM44 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152396	NM_001080504.3(RBM44):c.352G>A (p.Glu118Lys)	RBM44 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152397	NM_001080504.3(RBM44):c.400G>A (p.Asp134Asn)	RBM44 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313288	NM_001080504.3(RBM44):c.415A>G (p.Lys139Glu)	RBM44 (K139E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554107	NM_001080504.3(RBM44):c.416A>C (p.Lys139Thr)	RBM44 (K139T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152398	NM_001080504.3(RBM44):c.466G>A (p.Gly156Ser)	RBM44 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300973	NM_001080504.3(RBM44):c.576A>C (p.Glu192Asp)	RBM44 (E192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313287	NM_001080504.3(RBM44):c.699A>C (p.Glu233Asp)	RBM44 (E233D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345508	NM_001080504.3(RBM44):c.745T>C (p.Ser249Pro)	RBM44 (S249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382221	NM_001080504.3(RBM44):c.812G>A (p.Arg271Lys)	RBM44 (R271K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222939	NM_001080504.3(RBM44):c.842A>T (p.Tyr281Phe)	RBM44 (Y281F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313291	NM_001080504.3(RBM44):c.865A>G (p.Met289Val)	RBM44 (M289V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238060	NM_001080504.3(RBM44):c.892G>A (p.Val298Ile)	RBM44 (V298I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293971	NM_001080504.3(RBM44):c.1038T>G (p.Ile346Met)	RBM44 (I346M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152377	NM_001080504.3(RBM44):c.1144A>T (p.Thr382Ser)	RBM44 (T382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152378	NM_001080504.3(RBM44):c.1166T>G (p.Ile389Arg)	RBM44 (I389R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152379	NM_001080504.3(RBM44):c.1172C>T (p.Ser391Phe)	RBM44 (S391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152380	NM_001080504.3(RBM44):c.1193G>A (p.Ser398Asn)	RBM44 (S398N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545270	NM_001080504.3(RBM44):c.1234A>G (p.Met412Val)	RBM44 (M412V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152381	NM_001080504.3(RBM44):c.1334A>G (p.Asn445Ser)	RBM44 (N445S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305769	NM_001080504.3(RBM44):c.1370C>G (p.Ala457Gly)	RBM44 (A457G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303285	NM_001080504.3(RBM44):c.1515A>C (p.Lys505Asn)	RBM44 (K505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313295	NM_001080504.3(RBM44):c.1520C>G (p.Pro507Arg)	RBM44 (P507R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486956	NM_001080504.3(RBM44):c.1538A>G (p.Glu513Gly)	RBM44 (E513G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232551	NM_001080504.3(RBM44):c.1628A>G (p.Lys543Arg)	RBM44 (K543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242993	NM_001080504.3(RBM44):c.1726C>G (p.His576Asp)	RBM44 (H576D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455630	NM_001080504.3(RBM44):c.1752T>A (p.Phe584Leu)	RBM44 (F584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544225	NM_001080504.3(RBM44):c.1758T>G (p.Asp586Glu)	RBM44 (D586E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152382	NM_001080504.3(RBM44):c.1775C>T (p.Pro592Leu)	RBM44 (P592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152383	NM_001080504.3(RBM44):c.1798A>C (p.Met600Leu)	RBM44 (M600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260484	NM_001080504.3(RBM44):c.1825C>T (p.His609Tyr)	RBM44 (H609Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152384	NM_001080504.3(RBM44):c.1837G>A (p.Val613Ile)	RBM44 (V613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310455	NM_001080504.3(RBM44):c.1850T>C (p.Met617Thr)	RBM44 (M617T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313289	NM_001080504.3(RBM44):c.1855C>T (p.Arg619Cys)	RBM44 (R619C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152385	NM_001080504.3(RBM44):c.1949G>A (p.Gly650Glu)	RBM44 (G650E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393037	NM_001080504.3(RBM44):c.1988G>T (p.Arg663Ile)	RBM44 (R663I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313294	NM_001080504.3(RBM44):c.2020G>A (p.Gly674Ser)	RBM44 (G674S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558697	NM_001080504.3(RBM44):c.2023A>G (p.Ile675Val)	RBM44 (I675V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600477	NM_001080504.3(RBM44):c.2126C>T (p.Ser709Leu)	RBM44 (S709L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471172	NM_001080504.3(RBM44):c.2146G>A (p.Asp716Asn)	RBM44 (D716N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303363	NM_001080504.3(RBM44):c.2206A>T (p.Met736Leu)	RBM44 (M736L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210148	NM_001080504.3(RBM44):c.2245A>G (p.Ile749Val)	RBM44 (I749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282139	NM_001080504.3(RBM44):c.2247A>G (p.Ile749Met)	RBM44 (I749M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409732	NM_001080504.3(RBM44):c.2330A>G (p.His777Arg)	RBM44 (H777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152387	NM_001080504.3(RBM44):c.2345G>A (p.Ser782Asn)	RBM44 (S782N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379838	NM_001080504.3(RBM44):c.2347G>A (p.Glu783Lys)	RBM44 (E783K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152388	NM_001080504.3(RBM44):c.2389G>A (p.Val797Ile)	RBM44 (V797I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152389	NM_001080504.3(RBM44):c.2396G>T (p.Gly799Val)	RBM44 (G799V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292319	NM_001080504.3(RBM44):c.2531C>A (p.Ala844Asp)	RBM44 (A844D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551942	NM_001080504.3(RBM44):c.2578A>G (p.Ile860Val)	RBM44 (I860V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591059	NM_001080504.3(RBM44):c.2590A>G (p.Thr864Ala)	RBM44 (T864A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525932	NM_001080504.3(RBM44):c.2667A>G (p.Ile889Met)	RBM44 (I889M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279935	NM_001080504.3(RBM44):c.2755A>G (p.Ile919Val)	RBM44 (I919V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152391	NM_001080504.3(RBM44):c.2762C>T (p.Ser921Leu)	RBM44 (S921L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2225808	NM_001080504.3(RBM44):c.2808C>G (p.Phe936Leu)	RBM44 (F936L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324956	NM_001080504.3(RBM44):c.2839C>T (p.Arg947Trp)	RBM44 (R947W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512483	NM_001080504.3(RBM44):c.2881G>A (p.Asp961Asn)	RBM44 (D961N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152392	NM_001080504.3(RBM44):c.2944G>A (p.Val982Ile)	RBM44 (V982I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152393	NM_001080504.3(RBM44):c.2948A>G (p.Gln983Arg)	RBM44 (Q983R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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