ClinVar for Gene (Select 8634) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315612	NM_003729.4(RTCA):c.619G>A (p.Ala207Thr)	RTCA (A220T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315611	NM_003729.4(RTCA):c.629T>C (p.Met210Thr)	RTCA (M223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315610	NM_003729.4(RTCA):c.962C>T (p.Thr321Met)	RTCA (T321M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156800	NM_003729.4(RTCA):c.926T>G (p.Val309Gly)	RTCA (V309G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156799	NM_003729.4(RTCA):c.737T>G (p.Ile246Arg)	RTCA (I246R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156798	NM_003729.4(RTCA):c.1020A>T (p.Lys340Asn)	RTCA (K353N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156797	NM_003729.4(RTCA):c.1003A>G (p.Lys335Glu)	RTCA (K335E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685521	GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1	AGL, AMY1A +23 more	Copy number loss	not provided	GUncertain significance
Select item 2606309	NM_003729.4(RTCA):c.422A>G (p.Lys141Arg)	RTCA (K141R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2603932	NM_003729.4(RTCA):c.106G>A (p.Val36Met)	RTCA (V36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552190	NM_003729.4(RTCA):c.506T>C (p.Ile169Thr)	RTCA (I182T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514492	NM_003729.4(RTCA):c.557G>T (p.Arg186Leu)	RTCA (R186L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489508	NM_003729.4(RTCA):c.139G>T (p.Gly47Cys)	RTCA (G47C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474553	NM_003729.4(RTCA):c.749C>A (p.Ala250Asp)	RTCA (A250D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472347	NM_003729.4(RTCA):c.252C>G (p.Ile84Met)	RTCA (I84M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462832	NM_003729.4(RTCA):c.920A>G (p.Asn307Ser)	RTCA (N307S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460774	NM_003729.4(RTCA):c.574A>G (p.Ile192Val)	RTCA (I192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459053	NM_003729.4(RTCA):c.314T>A (p.Val105Asp)	RTCA (V118D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424320	NC_000001.10:g.(?_100316599)_(101709564_?)dup	AGL, CDC14A +13 more	Duplication	Maple syrup urine disease	GUncertain significance
Select item 2407247	NM_003729.4(RTCA):c.929C>T (p.Ser310Phe)	RTCA (S310F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360938	NM_003729.4(RTCA):c.512G>A (p.Arg171Gln)	RTCA (R184Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356231	NM_003729.4(RTCA):c.387G>A (p.Met129Ile)	RTCA (M142I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325838	NM_003729.4(RTCA):c.313G>T (p.Val105Phe)	RTCA (V105F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308925	NM_003729.4(RTCA):c.889G>C (p.Asp297His)	RTCA (D310H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308309	NM_003729.4(RTCA):c.808G>A (p.Ala270Thr)	RTCA (A283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289542	NM_003729.4(RTCA):c.31A>G (p.Ser11Gly)	RTCA (S11G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287633	NM_003729.4(RTCA):c.491G>C (p.Gly164Ala)	RTCA (G164A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267265	NM_003729.4(RTCA):c.563G>A (p.Cys188Tyr)	RTCA (C188Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264454	NM_003729.4(RTCA):c.159A>C (p.Leu53Phe)	RTCA (L53F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245525	NM_003729.4(RTCA):c.601G>A (p.Val201Ile)	RTCA (V201I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229811	NM_003729.4(RTCA):c.267C>A (p.His89Gln)	RTCA (H102Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224778	NM_003729.4(RTCA):c.860A>G (p.His287Arg)	RTCA (H287R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1341033	GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1	AGL, AMY1A +22 more	Copy number loss	not provided	GUncertain significance
Select item 814111	GRCh37/hg19 1p21.2(chr1:100704867-101205009)x3	CDC14A, GPR88 +3 more	Copy number gain	not provided	GUncertain significance
Select item 776339	NM_003729.4(RTCA):c.579T>C (p.Tyr193=)	RTCA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 43