ClinVar for Gene (Select 10432) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313189	NM_006328.4(RBM14):c.515A>T (p.Asp172Val)	RBM14, RBM14-RBM4 (D172V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313188	NM_006328.4(RBM14):c.583A>G (p.Thr195Ala)	RBM14, RBM14-RBM4 (T195A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313187	NM_006328.4(RBM14):c.1298T>C (p.Val433Ala)	RBM14, RBM14-RBM4 (V433A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313186	NM_006328.4(RBM14):c.1511A>G (p.Tyr504Cys)	RBM14, RBM14-RBM4 (Y504C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313184	NM_006328.4(RBM14):c.564G>T (p.Gln188His)	RBM14, RBM14-RBM4 (Q188H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313183	NM_006328.4(RBM14):c.823G>A (p.Ala275Thr)	RBM14, RBM14-RBM4 (A275T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313182	NM_006328.4(RBM14):c.545C>G (p.Ser182Cys)	RBM14, RBM14-RBM4 (S182C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313181	NM_006328.4(RBM14):c.992A>G (p.Tyr331Cys)	RBM14, RBM14-RBM4 (Y331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152192	NM_006328.4(RBM14):c.782A>G (p.Tyr261Cys)	RBM14, RBM14-RBM4 (Y261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152191	NM_006328.4(RBM14):c.623C>A (p.Pro208His)	RBM14, RBM14-RBM4 (P208H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152190	NM_006328.4(RBM14):c.1364C>G (p.Thr455Ser)	RBM14, RBM14-RBM4 (T455S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641998	NM_006328.4(RBM14):c.597T>C (p.Asp199=)	RBM14, RBM14-RBM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622935	NM_006328.4(RBM14):c.958G>A (p.Gly320Ser)	RBM14, RBM14-RBM4 (G320S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617512	NM_006328.4(RBM14):c.1445T>C (p.Leu482Pro)	RBM14, RBM14-RBM4 (L482P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570245	NM_006328.4(RBM14):c.950C>G (p.Ser317Cys)	RBM14, RBM14-RBM4 (S317C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530794	NM_006328.4(RBM14):c.893C>G (p.Ala298Gly)	RBM14, RBM14-RBM4 (A298G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495375	NM_006328.4(RBM14):c.919G>A (p.Gly307Arg)	RBM14, RBM14-RBM4 (G307R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494884	NM_006328.4(RBM14):c.1754G>A (p.Arg585Gln)	RBM14, RBM14-RBM4 (R585Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494883	NM_006328.4(RBM14):c.1267G>A (p.Ala423Thr)	RBM14, RBM14-RBM4 (A423T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470234	NM_006328.4(RBM14):c.653G>A (p.Arg218His)	RBM14, RBM14-RBM4 (R218H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2354806	NM_006328.4(RBM14):c.727G>A (p.Val243Met)	RBM14, RBM14-RBM4 (V243M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337621	NM_006328.4(RBM14):c.647C>G (p.Pro216Arg)	RBM14, RBM14-RBM4 (P216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335176	NM_006328.4(RBM14):c.800C>T (p.Thr267Ile)	RBM14, RBM14-RBM4 (T267I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325478	NM_006328.4(RBM14):c.1058C>T (p.Ala353Val)	RBM14, RBM14-RBM4 (A353V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317063	NM_006328.4(RBM14):c.980C>T (p.Ser327Leu)	RBM14, RBM14-RBM4 (S327L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305713	NM_006328.4(RBM14):c.1682T>C (p.Met561Thr)	RBM14, RBM14-RBM4 (M561T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282688	NM_006328.4(RBM14):c.1880C>T (p.Ser627Leu)	RBM14, RBM14-RBM4 (S627L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2269051	NM_006328.4(RBM14):c.622C>T (p.Pro208Ser)	RBM14, RBM14-RBM4 (P208S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225757	NM_006328.4(RBM14):c.896C>T (p.Ala299Val)	RBM14, RBM14-RBM4 (A299V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221359	NM_006328.4(RBM14):c.1394C>T (p.Pro465Leu)	RBM14, RBM14-RBM4 (P465L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208158	NM_006328.4(RBM14):c.520G>A (p.Ala174Thr)	RBM14, RBM14-RBM4 (A174T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206292	NM_006328.4(RBM14):c.1721C>T (p.Pro574Leu)	RBM14, RBM14-RBM4 (P574L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527645	GRCh37/hg19 11q13.2(chr11:66188172-66402747)	ACTN3, BBS1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 48