ClinVar for Gene (Select 6302) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379296	NM_000075.4(CDK4):c.820-6C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3379277	NM_000075.4(CDK4):c.820-17T>C	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3379264	NM_000075.4(CDK4):c.867T>C (p.Ala289=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3379215	NM_000075.4(CDK4):c.684-19G>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3379205	NM_000075.4(CDK4):c.*2C>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3379189	NM_000075.4(CDK4):c.639C>G (p.Leu213=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3379079	NM_000075.4(CDK4):c.862C>A (p.Arg288=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3379078	NM_000075.4(CDK4):c.684-20_684-19del	CDK4, TSPAN31	Microsatellite (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378993	NM_000075.4(CDK4):c.820-20A>T	TSPAN31, CDK4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378820	NM_000075.4(CDK4):c.690T>A (p.Ile230=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378809	NM_000075.4(CDK4):c.900T>G (p.Gly300=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378796	NM_000075.4(CDK4):c.820-12C>T	TSPAN31, CDK4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378791	NM_000075.4(CDK4):c.*9G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378787	NM_000075.4(CDK4):c.765C>G (p.Arg255=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378786	NM_000075.4(CDK4):c.783A>T (p.Val261=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378778	NM_000075.4(CDK4):c.693G>C (p.Gly231=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378751	NM_000075.4(CDK4):c.*6G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378749	NM_000075.4(CDK4):c.633-13C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378747	NM_000075.4(CDK4):c.900T>C (p.Gly300=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378746	NM_000075.4(CDK4):c.780G>T (p.Val260=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378720	NM_000075.4(CDK4):c.816G>A (p.Leu272=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378699	NM_000075.4(CDK4):c.*10T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378684	NM_000075.4(CDK4):c.669G>A (p.Leu223=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378669	NM_000075.4(CDK4):c.820-19C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378668	NM_000075.4(CDK4):c.840A>T (p.Pro280=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378667	NM_000075.4(CDK4):c.811C>T (p.Leu271=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378665	NM_000075.4(CDK4):c.911G>A (p.Ter304=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378641	NM_000075.4(CDK4):c.684-17T>C	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378621	NM_000075.4(CDK4):c.807A>G (p.Ala269=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378566	NM_000075.4(CDK4):c.684-20A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378559	NM_000075.4(CDK4):c.820-7C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378555	NM_000075.4(CDK4):c.726A>T (p.Val242=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378537	NM_000075.4(CDK4):c.820-8C>T	TSPAN31, CDK4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3378477	NM_000075.4(CDK4):c.768A>G (p.Pro256=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378475	NM_000075.4(CDK4):c.759G>A (p.Gly253=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378470	NM_000075.4(CDK4):c.879T>C (p.Ser293=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378450	NM_000075.4(CDK4):c.672C>A (p.Gly224=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378435	NM_000075.4(CDK4):c.633-14C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3329654	NM_005981.5(TSPAN31):c.489G>C (p.Lys163Asn)	TSPAN31 (K85N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265478	NM_000075.4(CDK4):c.652T>C (p.Ser218Pro)	CDK4, TSPAN31 (S218P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265472	NM_000075.4(CDK4):c.636T>A (p.Pro212=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 3265470	NM_000075.4(CDK4):c.633-3T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265467	NM_000075.4(CDK4):c.869del (p.Leu290fs)	CDK4, TSPAN31 (L290fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256203	NM_000075.4(CDK4):c.819+50_819+53del	CDK4, TSPAN31	Microsatellite (intron variant +1 more)	not specified	GLikely benign
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3233673	NM_000075.4(CDK4):c.633-5C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GConflicting classifications of pathogenicity
Select item 3230249	NM_000075.4(CDK4):c.868C>G (p.Leu290Val)	CDK4, TSPAN31 (L290V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230248	NM_000075.4(CDK4):c.814C>T (p.Leu272=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230246	NM_000075.4(CDK4):c.784C>A (p.Pro262Thr)	CDK4, TSPAN31 (P262T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230244	NM_000075.4(CDK4):c.779T>C (p.Val260Ala)	CDK4, TSPAN31 (V260A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230243	NM_000075.4(CDK4):c.766C>A (p.Pro256Thr)	CDK4, TSPAN31 (P256T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230242	NM_000075.4(CDK4):c.676del (p.Ile226fs)	CDK4, TSPAN31 (I226fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3183826	NM_005981.5(TSPAN31):c.326A>G (p.Asn109Ser)	TSPAN31 (N26S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183825	NM_005981.5(TSPAN31):c.305G>C (p.Ser102Thr)	TSPAN31 (S102T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3061174	NM_000075.4(CDK4):c.888T>C (p.His296=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	CDK4-related disorder	GLikely benign
Select item 3010503	NM_000075.4(CDK4):c.796G>A (p.Glu266Lys)	CDK4, TSPAN31 (E266K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2989685	NM_000075.4(CDK4):c.799T>G (p.Ser267Ala)	CDK4, TSPAN31 (S267A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 2899466	NM_000075.4(CDK4):c.775T>C (p.Ser259Pro)	CDK4, TSPAN31 (S259P)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2889610	NM_000075.4(CDK4):c.633-10C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma +1 more	GLikely benign
Select item 2880617	NM_000075.4(CDK4):c.820-6C>G	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2865567	NM_000075.4(CDK4):c.820-13C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2862370	NM_000075.4(CDK4):c.765C>T (p.Arg255=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2856499	NM_000075.4(CDK4):c.893A>T (p.Asp298Val)	CDK4, TSPAN31 (D298V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2849443	NM_000075.4(CDK4):c.633-20T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2843394	NM_000075.4(CDK4):c.819+17T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2840080	NM_000075.4(CDK4):c.870G>A (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2839860	NM_000075.4(CDK4):c.644G>A (p.Cys215Tyr)	CDK4, TSPAN31 (C215Y)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2830043	NM_000075.4(CDK4):c.769G>A (p.Val257Met)	CDK4, TSPAN31 (V257M)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2827533	NM_000075.4(CDK4):c.768A>C (p.Pro256=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2816243	NM_000075.4(CDK4):c.699T>C (p.Pro233=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2812839	NM_000075.4(CDK4):c.899G>T (p.Gly300Val)	CDK4, TSPAN31 (G300V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2811134	NM_000075.4(CDK4):c.820-10C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2788831	NM_000075.4(CDK4):c.683+9C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2777318	NM_000075.4(CDK4):c.716C>T (p.Pro239Leu)	CDK4, TSPAN31 (P239L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2761613	NM_000075.4(CDK4):c.664C>A (p.Gln222Lys)	CDK4, TSPAN31 (Q222K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2758428	NM_000075.4(CDK4):c.837C>G (p.Asn279Lys)	CDK4, TSPAN31 (N279K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2746564	NM_000075.4(CDK4):c.907G>T (p.Glu303Ter)	CDK4, TSPAN31 (E303*)	Single nucleotide variant (nonsense +1 more)	Familial melanoma	GUncertain significance
Select item 2727130	NM_000075.4(CDK4):c.820-15T>A	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2705638	NM_000075.4(CDK4):c.805G>T (p.Ala269Ser)	CDK4, TSPAN31 (A269S)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2699604	NM_000075.4(CDK4):c.801G>T (p.Ser267=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2695753	NM_000075.4(CDK4):c.683+8A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2691920	NM_000075.4(CDK4):c.819+43G>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2619829	NM_005981.5(TSPAN31):c.28A>G (p.Lys10Glu)	TSPAN31 (K10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603199	NM_000075.4(CDK4):c.694_706dup (p.Asp236fs)	CDK4, TSPAN31 (D236fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2589657	NM_005981.5(TSPAN31):c.207C>A (p.Asn69Lys)	TSPAN31 (N69K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2586841	NM_000075.4(CDK4):c.743C>T (p.Ala248Val)	CDK4, TSPAN31 (A248V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586840	NM_000075.4(CDK4):c.642C>T (p.Phe214=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586838	NM_000075.4(CDK4):c.727T>C (p.Ser243Pro)	CDK4, TSPAN31 (S243P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586835	NM_000075.4(CDK4):c.819G>T (p.Leu273=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2579887	NM_000075.4(CDK4):c.833_834del (p.Thr277_Phe278insTer)	CDK4, TSPAN31	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2576687	NM_000075.4(CDK4):c.684C>G (p.Asp228Glu)	CDK4, TSPAN31 (D228E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575319	NM_000075.4(CDK4):c.683+48T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2566778	NM_000075.4(CDK4):c.774G>T (p.Gln258His)	CDK4, TSPAN31 (Q258H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566776	NM_000075.4(CDK4):c.776C>G (p.Ser259Trp)	CDK4, TSPAN31 (S259W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2484791	NM_005981.5(TSPAN31):c.43G>T (p.Ala15Ser)	TSPAN31 (A15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2452475	NM_000075.4(CDK4):c.754A>G (p.Arg252Gly)	CDK4, TSPAN31 (R252G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452474	NM_000075.4(CDK4):c.676A>C (p.Ile226Leu)	CDK4, TSPAN31 (I226L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452472	NM_000075.4(CDK4):c.750C>A (p.Pro250=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452469	NM_000075.4(CDK4):c.819+5T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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