RBM45[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 155530	GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1	AGPS, ATF2 +224 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	LOC129935258, LOC129935259 +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 2363028	NM_152945.4(RBM45):c.29G>T (p.Gly10Val)	LOC129935176, RBM45 (G10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152400	NM_152945.4(RBM45):c.281A>C (p.Asn94Thr)	RBM45 (N94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470752	NM_152945.4(RBM45):c.548G>A (p.Arg183Gln)	RBM45 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152401	NM_152945.4(RBM45):c.739C>T (p.Arg247Cys)	RBM45 (R247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277176	NM_152945.4(RBM45):c.801A>G (p.Ile267Met)	RBM45 (I269M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360883	NM_152945.4(RBM45):c.892A>T (p.Ile298Phe)	RBM45 (I298F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789708	NM_152945.4(RBM45):c.903A>G (p.Lys301=)	RBM45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778015	NM_152945.4(RBM45):c.924G>A (p.Gln308=)	RBM45	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408930	NM_152945.4(RBM45):c.932C>T (p.Pro311Leu)	RBM45 (P313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535754	NM_152945.4(RBM45):c.944T>C (p.Ile315Thr)	RBM45 (I317T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152402	NM_152945.4(RBM45):c.945A>G (p.Ile315Met)	RBM45 (I315M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223986	NM_152945.4(RBM45):c.1041G>C (p.Trp347Cys)	RBM45 (W347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527625	NM_152945.4(RBM45):c.1151C>G (p.Ala384Gly)	RBM45 (A384G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539986	NM_152945.4(RBM45):c.1337A>G (p.His446Arg)	RBM45 (H446R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425519	NC_000002.11:g.(?_178095513)_(179914668_?)dup	AGPS, CCDC141 +11 more	Duplication	not provided	GUncertain significance
Select item 2424718	NC_000002.11:g.(?_178095513)_(179914668_?)del	AGPS, CCDC141 +11 more	Deletion	not provided	GUncertain significance
Select item 1808725	GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1	AGPS, ATF2 +38 more	Copy number loss	not provided	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 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger syndactyly +1 more	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 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 979386	GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3	TTC30A, TTC30B +11 more	Copy number gain	not provided	GUncertain significance
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 688324	GRCh37/hg19 2q31.1-31.2(chr2:176310551-179092634)x1	AGPS, EVX2 +19 more	Copy number loss	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562627	GRCh37/hg19 2q31.2(chr2:178546905-179656720)x3	OSBPL6, FKBP7 +6 more	Copy number gain	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 43