"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574349	NM_000075.4(CDK4):c.905C>T (p.Pro302Leu)	CDK4, TSPAN31 (P302L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +3 more	GUncertain significance
Select item 841483	NM_000075.4(CDK4):c.881A>G (p.Tyr294Cys)	CDK4, TSPAN31 (Y294C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 801143	NM_000075.4(CDK4):c.880dup (p.Tyr294fs)	CDK4, TSPAN31 (Y294fs)	Duplication (frameshift variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 246278	NM_000075.4(CDK4):c.863G>A (p.Arg288Gln)	TSPAN31, CDK4 (R288Q)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 219965	NM_000075.4(CDK4):c.834T>C (p.Phe278=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 230297	NM_000075.4(CDK4):c.829A>G (p.Thr277Ala)	CDK4, TSPAN31 (T277A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 532302	NM_005981.5(TSPAN31):c.*1886del	CDK4, TSPAN31	Deletion (3 prime UTR variant +1 more)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 483283	NM_000075.4(CDK4):c.813G>A (p.Leu271=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 439048	NM_000075.4(CDK4):c.800C>T (p.Ser267Leu)	CDK4, TSPAN31 (S267L)	Single nucleotide variant (missense variant +1 more)	Ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 414927	NM_000075.4(CDK4):c.798G>A (p.Glu266=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +2 more	GLikely benign
Select item 1052125	NM_000075.4(CDK4):c.782T>C (p.Val261Ala)	CDK4, TSPAN31 (V261A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +2 more	GUncertain significance
Select item 182405	NM_000075.4(CDK4):c.779T>A (p.Val260Glu)	TSPAN31, CDK4 (V260E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 127520	NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)	CDK4, TSPAN31 (S259L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 219393	NM_000075.4(CDK4):c.771G>A (p.Val257=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma +3 more	GBenign/Likely benign
Select item 184333	NM_000075.4(CDK4):c.764G>A (p.Arg255His)	CDK4, TSPAN31 (R255H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 133877	NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)	CDK4, TSPAN31 (R255C)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +3 more	GConflicting classifications of pathogenicity
Select item 483286	NM_000075.4(CDK4):c.753C>A (p.Pro251=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 220063	NM_000075.4(CDK4):c.752C>G (p.Pro251Arg)	CDK4, TSPAN31 (P251R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 184151	NM_000075.4(CDK4):c.696G>A (p.Leu232=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 142091	NM_005981.5(TSPAN31):c.*2031T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 421369	NM_005981.5(TSPAN31):c.*2037dup	TSPAN31, CDK4	Duplication (3 prime UTR variant +1 more)	not specified +3 more	GLikely benign
Select item 993216	NM_000075.4(CDK4):c.680T>C (p.Phe227Ser)	CDK4, TSPAN31 (F227S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 133876	NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)	CDK4, TSPAN31 (D221N)	Single nucleotide variant (missense variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 387376	NM_000075.4(CDK4):c.660C>T (p.Ala220=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 439047	NM_000075.4(CDK4):c.632+5dup	CDK4	Duplication (intron variant)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 485496	NM_000075.4(CDK4):c.632A>C (p.Lys211Thr)	CDK4 (K211T)	Single nucleotide variant (missense variant)	Familial melanoma +3 more	GUncertain significance
Select item 135825	NM_000075.4(CDK4):c.625C>T (p.Arg209Cys)	CDK4 (R209C)	Single nucleotide variant (missense variant)	Familial melanoma +4 more	GConflicting classifications of pathogenicity
Select item 993215	NM_000075.4(CDK4):c.553G>A (p.Val185Ile)	CDK4 (V185I)	Single nucleotide variant (missense variant)	Familial melanoma +3 more	GUncertain significance
Select item 186813	NM_000075.4(CDK4):c.549C>T (p.Pro183=)	CDK4	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 133875	NM_000075.4(CDK4):c.523G>A (p.Val175Ile)	CDK4 (V175I)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 215439	NM_000075.4(CDK4):c.522+8G>A	CDK4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 825243	NM_000075.4(CDK4):c.486C>G (p.Ala162=)	CDK4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 483284	NM_000075.4(CDK4):c.481C>T (p.Leu161=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 483279	NM_000075.4(CDK4):c.458C>T (p.Thr153Ile)	CDK4 (T153I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 184152	NM_000075.4(CDK4):c.447A>G (p.Thr149=)	CDK4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 824901	NM_000075.4(CDK4):c.444G>T (p.Val148=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220499	NM_000075.4(CDK4):c.409G>C (p.Val137Leu)	CDK4 (V137L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 216268	NM_000075.4(CDK4):c.409G>A (p.Val137Ile)	CDK4 (V137I)	Single nucleotide variant (missense variant)	CDK4-related condition +3 more	GUncertain significance
Select item 233735	NM_000075.4(CDK4):c.385G>A (p.Asp129Asn)	CDK4 (D129N)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 954054	NM_000075.4(CDK4):c.345A>C (p.Glu115Asp)	CDK4 (E115D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 619827	NM_000075.4(CDK4):c.307T>A (p.Tyr103Asn)	CDK4 (Y103N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 386089	NM_000075.4(CDK4):c.306A>C (p.Thr102=)	CDK4	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 184409	NM_000075.4(CDK4):c.306A>G (p.Thr102=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +5 more	GBenign/Likely benign
Select item 619671	NM_000075.4(CDK4):c.255G>T (p.Arg85=)	CDK4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2681861	NM_000075.4(CDK4):c.232T>A (p.Cys78Ser)	CDK4 (C78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 236943	NM_000075.4(CDK4):c.228C>T (p.Asp76=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +3 more	GLikely benign
Select item 483288	NM_000075.4(CDK4):c.222G>A (p.Leu74=)	CDK4	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 439046	NM_000075.4(CDK4):c.155G>A (p.Ser52Asn)	CDK4, LOC130008148 (S52N)	Single nucleotide variant (missense variant)	Familial melanoma +4 more	GUncertain significance
Select item 135822	NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)	CDK4, LOC130008148 (N41S)	Single nucleotide variant (missense variant)	Familial melanoma +5 more	GConflicting classifications of pathogenicity
Select item 581775	NM_000075.4(CDK4):c.48C>G (p.Ala16=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GConflicting classifications of pathogenicity
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic

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Items: 53