ClinVar for Gene (Select 116512) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295853	NM_198923.2(MRGPRD):c.245C>T (p.Thr82Met)	MRGPRD (T82M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295852	NM_198923.2(MRGPRD):c.242C>A (p.Ser81Tyr)	MRGPRD (S81Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295851	NM_198923.2(MRGPRD):c.806G>C (p.Ser269Thr)	MRGPRD (S269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295850	NM_198923.2(MRGPRD):c.760C>A (p.Gln254Lys)	MRGPRD (Q254K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295848	NM_198923.2(MRGPRD):c.362C>T (p.Thr121Ile)	MRGPRD (T121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295847	NM_198923.2(MRGPRD):c.845G>A (p.Arg282Gln)	MRGPRD (R282Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295846	NM_198923.2(MRGPRD):c.895G>A (p.Ala299Thr)	MRGPRD (A299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295845	NM_198923.2(MRGPRD):c.577G>A (p.Val193Met)	MRGPRD (V193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204315	NM_198923.2(MRGPRD):c.685G>C (p.Val229Leu)	MRGPRD (V229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204310	NM_198923.2(MRGPRD):c.676T>G (p.Ser226Ala)	MRGPRD (S226A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204300	NM_198923.2(MRGPRD):c.640C>T (p.Arg214Trp)	MRGPRD (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204284	NM_198923.2(MRGPRD):c.467T>G (p.Met156Arg)	MRGPRD (M156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204273	NM_198923.2(MRGPRD):c.340A>G (p.Ser114Gly)	MRGPRD (S114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204262	NM_198923.2(MRGPRD):c.217C>T (p.Leu73Phe)	MRGPRD (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204257	NM_198923.2(MRGPRD):c.206C>T (p.Ala69Val)	MRGPRD (A69V)	Single nucleotide variant (missense variant)	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 2600380	NM_198923.2(MRGPRD):c.410G>A (p.Arg137Gln)	MRGPRD (R137Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2592426	NM_198923.2(MRGPRD):c.562G>A (p.Gly188Arg)	MRGPRD (G188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524695	NM_198923.2(MRGPRD):c.548C>T (p.Ala183Val)	MRGPRD (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518740	NM_198923.2(MRGPRD):c.799G>T (p.Val267Leu)	MRGPRD (V267L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486858	NM_198923.2(MRGPRD):c.368G>A (p.Arg123His)	MRGPRD (R123H)	Single nucleotide variant (missense variant)	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 2411601	NM_198923.2(MRGPRD):c.820G>A (p.Val274Ile)	MRGPRD (V274I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411089	NM_198923.2(MRGPRD):c.641G>A (p.Arg214Gln)	MRGPRD (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386014	NM_198923.2(MRGPRD):c.940G>A (p.Val314Met)	MRGPRD (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384701	NM_198923.2(MRGPRD):c.58G>A (p.Gly20Arg)	MRGPRD (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316492	NM_198923.2(MRGPRD):c.845G>C (p.Arg282Pro)	MRGPRD (R282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316444	NM_198923.2(MRGPRD):c.251G>T (p.Ser84Ile)	MRGPRD (S84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236039	NM_198923.2(MRGPRD):c.865A>C (p.Thr289Pro)	MRGPRD (T289P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221691	NM_198923.2(MRGPRD):c.913G>A (p.Glu305Lys)	MRGPRD (E305K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220466	NM_198923.2(MRGPRD):c.953A>G (p.Glu318Gly)	MRGPRD (E318G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217859	NM_198923.2(MRGPRD):c.520C>T (p.Arg174Trp)	MRGPRD (R174W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208550	NM_198923.2(MRGPRD):c.811G>A (p.Ala271Thr)	MRGPRD (A271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204584	NM_198923.2(MRGPRD):c.904G>A (p.Glu302Lys)	MRGPRD (E302K)	Single nucleotide variant (missense variant)	not specified	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	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 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 148930	GRCh38/hg38 11q13.2-13.3(chr11:68205963-69580475)x3	C11orf24, CPT1A +96 more	Copy number gain	See cases	GLikely benign
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 43