ClinVar for Gene (Select 8634) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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	ANGPTL7, C1orf127 +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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +194 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40