ClinVar for Gene (Select 375316) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3313294	NM_001080504.3(RBM44):c.2020G>A (p.Gly674Ser)	RBM44 (G674S)	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 3313291	NM_001080504.3(RBM44):c.865A>G (p.Met289Val)	RBM44 (M289V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3313289	NM_001080504.3(RBM44):c.1855C>T (p.Arg619Cys)	RBM44 (R619C)	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 3313287	NM_001080504.3(RBM44):c.699A>C (p.Glu233Asp)	RBM44 (E233D)	Single nucleotide variant (missense variant)	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 3152398	NM_001080504.3(RBM44):c.466G>A (p.Gly156Ser)	RBM44 (G156S)	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 3152396	NM_001080504.3(RBM44):c.352G>A (p.Glu118Lys)	RBM44 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152395	NM_001080504.3(RBM44):c.3126A>T (p.Ser1042=)	RBM44	Single nucleotide variant (synonymous 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
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 3152391	NM_001080504.3(RBM44):c.2762C>T (p.Ser921Leu)	RBM44 (S921L)	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 3152388	NM_001080504.3(RBM44):c.2389G>A (p.Val797Ile)	RBM44 (V797I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3152385	NM_001080504.3(RBM44):c.1949G>A (p.Gly650Glu)	RBM44 (G650E)	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 3152383	NM_001080504.3(RBM44):c.1798A>C (p.Met600Leu)	RBM44 (M600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3152381	NM_001080504.3(RBM44):c.1334A>G (p.Asn445Ser)	RBM44 (N445S)	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 3152379	NM_001080504.3(RBM44):c.1172C>T (p.Ser391Phe)	RBM44 (S391F)	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 3152377	NM_001080504.3(RBM44):c.1144A>T (p.Thr382Ser)	RBM44 (T382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148871	GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3	ASB1, COL6A3 +16 more	Copy number gain	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 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 2685885	GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3	COL6A3, ERFE +13 more	Copy number gain	not provided	GUncertain significance
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 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
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 2599635	NM_001080504.3(RBM44):c.2991G>C (p.Lys997Asn)	RBM44 (K997N)	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 2558697	NM_001080504.3(RBM44):c.2023A>G (p.Ile675Val)	RBM44 (I675V)	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 2551942	NM_001080504.3(RBM44):c.2578A>G (p.Ile860Val)	RBM44 (I860V)	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 2544225	NM_001080504.3(RBM44):c.1758T>G (p.Asp586Glu)	RBM44 (D586E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539132	NM_001080504.3(RBM44):c.3112G>A (p.Val1038Met)	RBM44 (V1038M)	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 2512483	NM_001080504.3(RBM44):c.2881G>A (p.Asp961Asn)	RBM44 (D961N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2471172	NM_001080504.3(RBM44):c.2146G>A (p.Asp716Asn)	RBM44 (D716N)	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 2425085	NC_000002.11:g.(?_236403331)_(242801596_?)del	ANO7, ACKR3 +59 more	Deletion	Bethlem myopathy 1A	GPathogenic
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 2393037	NM_001080504.3(RBM44):c.1988G>T (p.Arg663Ile)	RBM44 (R663I)	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 2379838	NM_001080504.3(RBM44):c.2347G>A (p.Glu783Lys)	RBM44 (E783K)	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 2337428	NM_001080504.3(RBM44):c.289A>G (p.Ser97Gly)	RBM44 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2324956	NM_001080504.3(RBM44):c.2839C>T (p.Arg947Trp)	RBM44 (R947W)	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 2309575	NM_001080504.3(RBM44):c.52A>G (p.Asn18Asp)	RBM44 (N18D)	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 2303363	NM_001080504.3(RBM44):c.2206A>T (p.Met736Leu)	RBM44 (M736L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2300973	NM_001080504.3(RBM44):c.576A>C (p.Glu192Asp)	RBM44 (E192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2292319	NM_001080504.3(RBM44):c.2531C>A (p.Ala844Asp)	RBM44 (A844D)	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 2279935	NM_001080504.3(RBM44):c.2755A>G (p.Ile919Val)	RBM44 (I919V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2260484	NM_001080504.3(RBM44):c.1825C>T (p.His609Tyr)	RBM44 (H609Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245143	NM_001080504.3(RBM44):c.2954T>C (p.Ile985Thr)	RBM44 (I985T)	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 2238060	NM_001080504.3(RBM44):c.892G>A (p.Val298Ile)	RBM44 (V298I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2225808	NM_001080504.3(RBM44):c.2808C>G (p.Phe936Leu)	RBM44 (F936L)	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 2210148	NM_001080504.3(RBM44):c.2245A>G (p.Ile749Val)	RBM44 (I749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808622	GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1	ACKR3, AGAP1 +59 more	Copy number loss	not provided	GPathogenic
Select item 1807819	GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 1703652	GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384)	HES6, ILKAP +58 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	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 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1411455	NC_000002.11:g.(?_238233417)_(242801596_?)del	AGXT, ANKMY1 +53 more	Deletion	D-2-hydroxyglutaric aciduria 1	GPathogenic
Select item 1411130	NC_000002.11:g.(?_238233417)_(242800990_?)dup	ANKMY1, ATG4B +53 more	Duplication	D-2-hydroxyglutaric aciduria 1 +3 more	GUncertain significance
Select item 1371785	NC_000002.11:g.(?_236403331)_(242801596_?)dup	ACKR3, AGAP1 +59 more	Duplication	not provided	GUncertain significance
Select item 1340528	GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1	PASK, RAB17 +53 more	Copy number loss	not provided	GPathogenic
Select item 1340464	GRCh37/hg19 2q37.3(chr2:238131823-238750046)x3	COL6A3, LRRFIP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 997810	Single allele	D2HGDH, DTYMK +57 more	Deletion	Intellectual disability	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 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 980018	GRCh37/hg19 2q37.3(chr2:238509115-239053313)x3	ESPNL, LRRFIP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 816588	GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1	ACKR3, AGAP1 +37 more	Copy number loss	not provided	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic

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