C2677491[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 303944	NM_003476.5(CSRP3):c.*638T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303945	NM_003476.5(CSRP3):c.*629T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GBenign
Select item 303946	NM_003476.5(CSRP3):c.*575T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 878158	NM_003476.5(CSRP3):c.*559G>A	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303947	NM_003476.5(CSRP3):c.*504A>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303948	NM_003476.5(CSRP3):c.*450T>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GLikely benign
Select item 878159	NM_003476.5(CSRP3):c.*415A>G	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 878160	NM_003476.5(CSRP3):c.*292A>T	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303949	NM_003476.5(CSRP3):c.*245T>C	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303950	NM_003476.5(CSRP3):c.*159C>T	CSRP3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 632157	NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg)	CSRP3 (N138K)	Single nucleotide variant (missense variant +1 more)	CSRP3-Related Disorders +3 more	GUncertain significance
Select item 303951	NM_003476.5(CSRP3):c.537G>A (p.Thr179=)	CSRP3 (R123Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 303952	NM_003476.5(CSRP3):c.415-11G>T	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GConflicting classifications of pathogenicity
Select item 303953	NM_003476.5(CSRP3):c.414+6A>G	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 44696	NM_003476.5(CSRP3):c.336G>A (p.Ala112=)	CSRP3 (R56Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 44695	NM_003476.5(CSRP3):c.312C>G (p.Thr104=)	CSRP3 (P48R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 303954	NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)	CSRP3 (S101L +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 44694	NM_003476.5(CSRP3):c.299G>A (p.Arg100His)	CSRP3 (R100H +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 879980	NM_003476.5(CSRP3):c.282-15G>C	CSRP3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 163012	NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)	CSRP3 (G89S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 201694	NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser)	CSRP3 (A77S)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12 +3 more	GUncertain significance
Select item 879981	NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu)	CSRP3 (G74E)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 879982	NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp)	CSRP3 (G72W)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 44692	NM_003476.5(CSRP3):c.213C>T (p.Ile71=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +5 more	GBenign/Likely benign
Select item 137035	NM_003476.5(CSRP3):c.162G>A (p.Ser54=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +4 more	GConflicting classifications of pathogenicity
Select item 44688	NM_003476.5(CSRP3):c.150G>A (p.Ala50=)	CSRP3	Single nucleotide variant (synonymous variant +1 more)	Hypertrophic cardiomyopathy 12 +4 more	GBenign/Likely benign
Select item 137036	NM_003476.4(CSRP3):c.-74A>C	CSRP3-AS1, CSRP3	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 303956	NM_003476.4(CSRP3):c.-157G>A	CSRP3, CSRP3-AS1	Single nucleotide variant	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303957	NM_003476.4(CSRP3):c.-158A>G	CSRP3, CSRP3-AS1	Single nucleotide variant	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303960	NM_003476.4(CSRP3):c.-163A>G	CSRP3, CSRP3-AS1	Single nucleotide variant	Hypertrophic cardiomyopathy 12	GUncertain significance
Select item 303963	NM_003476.4(CSRP3):c.-195G>A	CSRP3-AS1, CSRP3	Single nucleotide variant	Hypertrophic cardiomyopathy 12 +1 more	GUncertain significance
Select item 877187	NM_003476.4(CSRP3):c.-211C>T	CSRP3, CSRP3-AS1	Single nucleotide variant	Hypertrophic cardiomyopathy 12	GUncertain significance

ClinVar

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Items: 32