ClinVar for Gene (Select 10216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362579	NM_005807.6(PRG4):c.3905_3909del (p.Arg1302fs)	PRG4, TPR (R1168fs +4 more)	Deletion (frameshift variant +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 3353168	NM_005807.6(PRG4):c.3327C>T (p.Leu1109=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3309903	NM_005807.6(PRG4):c.3305G>A (p.Gly1102Glu)	PRG4 (G1061E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309901	NM_005807.6(PRG4):c.1352C>T (p.Pro451Leu)	PRG4 (P358L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309900	NM_005807.6(PRG4):c.1895T>C (p.Leu632Pro)	PRG4 (L591P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3309899	NM_005807.6(PRG4):c.1874C>T (p.Thr625Met)	PRG4 (T582M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309898	NM_005807.6(PRG4):c.404G>A (p.Arg135His)	PRG4 (R94H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309897	NM_005807.6(PRG4):c.2699C>T (p.Thr900Ile)	PRG4 (T900I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309896	NM_005807.6(PRG4):c.1966C>A (p.Pro656Thr)	PRG4 (P522T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309895	NM_005807.6(PRG4):c.2774G>T (p.Arg925Leu)	PRG4 (R832L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309894	NM_005807.6(PRG4):c.3548G>A (p.Arg1183His)	PRG4 (R1142H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309893	NM_005807.6(PRG4):c.2773C>T (p.Arg925Cys)	PRG4 (R882C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218634	NM_005807.6(PRG4):c.985G>A (p.Ala329Thr)	PRG4 (A288T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218633	NM_005807.6(PRG4):c.892A>G (p.Thr298Ala)	PRG4 (T257A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218632	NM_005807.6(PRG4):c.731A>G (p.Asn244Ser)	PRG4 (N151S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218631	NM_005807.6(PRG4):c.707C>A (p.Pro236His)	PRG4 (P143H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218630	NM_005807.6(PRG4):c.431A>C (p.Lys144Thr)	PRG4 (K144T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218629	NM_005807.6(PRG4):c.3964C>T (p.Pro1322Ser)	PRG4, TPR (P1281S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218628	NM_005807.6(PRG4):c.3473G>A (p.Arg1158His)	PRG4 (R1117H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218627	NM_005807.6(PRG4):c.3191C>G (p.Pro1064Arg)	PRG4 (P1023R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218626	NM_005807.6(PRG4):c.2751C>G (p.Asp917Glu)	PRG4 (D876E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218625	NM_005807.6(PRG4):c.2572T>A (p.Ser858Thr)	PRG4 (S724T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218624	NM_005807.6(PRG4):c.2558C>A (p.Thr853Asn)	PRG4 (T760N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218623	NM_005807.6(PRG4):c.2462C>T (p.Thr821Ile)	PRG4 (T687I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218622	NM_005807.6(PRG4):c.2338G>A (p.Gly780Arg)	PRG4 (G646R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218621	NM_005807.6(PRG4):c.2062C>T (p.Pro688Ser)	PRG4 (P554S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218620	NM_005807.6(PRG4):c.1802C>T (p.Ala601Val)	PRG4 (A508V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218619	NM_005807.6(PRG4):c.1765C>T (p.Pro589Ser)	PRG4 (P546S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218618	NM_005807.6(PRG4):c.1547C>T (p.Pro516Leu)	PRG4 (P423L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218617	NM_005807.6(PRG4):c.1295C>A (p.Pro432His)	PRG4 (P298H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218616	NM_005807.6(PRG4):c.1230G>T (p.Lys410Asn)	PRG4 (K276N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218615	NM_005807.6(PRG4):c.1162T>C (p.Ser388Pro)	PRG4 (S254P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062118	NM_005807.6(PRG4):c.23_26dup (p.Leu11fs)	PRG4 (L11fs)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 3057176	NM_005807.6(PRG4):c.3813T>C (p.Tyr1271=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	PRG4-related disorder	GLikely benign
Select item 3054779	NM_005807.6(PRG4):c.3048G>A (p.Ala1016=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3053319	NM_005807.6(PRG4):c.2904C>T (p.Thr968=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3051358	NM_005807.6(PRG4):c.-1G>A	PRG4	Single nucleotide variant (5 prime UTR variant)	PRG4-related disorder	GLikely benign
Select item 3051195	NM_005807.6(PRG4):c.634C>T (p.Pro212Ser)	PRG4 (P119S +4 more)	Single nucleotide variant (missense variant)	PRG4-related disorder	GLikely benign
Select item 3049072	NM_005807.6(PRG4):c.77-9T>C	PRG4	Single nucleotide variant (intron variant)	PRG4-related disorder	GLikely benign
Select item 3046155	NM_005807.6(PRG4):c.756C>T (p.Ile252=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GBenign
Select item 3045729	NM_005807.6(PRG4):c.807T>C (p.Asp269=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3045263	NM_005807.6(PRG4):c.96G>A (p.Gly32=)	PRG4	Single nucleotide variant (synonymous variant +1 more)	PRG4-related disorder	GLikely benign
Select item 3037358	NM_005807.6(PRG4):c.3887C>T (p.Thr1296Met)	PRG4, TPR (T1162M +4 more)	Single nucleotide variant (missense variant +1 more)	PRG4-related disorder	GBenign
Select item 3037150	NM_005807.6(PRG4):c.713C>T (p.Thr238Met)	PRG4 (T104M +4 more)	Single nucleotide variant (missense variant)	PRG4-related disorder	GBenign
Select item 3036604	NM_005807.6(PRG4):c.720C>T (p.Thr240=)	PRG4	Single nucleotide variant (synonymous variant)	PRG4-related disorder	GLikely benign
Select item 3034776	NM_005807.6(PRG4):c.185G>A (p.Arg62Lys)	PRG4 (R62K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3034267	NM_005807.6(PRG4):c.3331C>T (p.Pro1111Ser)	PRG4 (P1018S +4 more)	Single nucleotide variant (missense variant)	PRG4-related disorder	GLikely benign
Select item 2639665	NM_005807.6(PRG4):c.4089C>T (p.Asp1363=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639664	NM_005807.6(PRG4):c.3714A>G (p.Gly1238=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639663	NM_005807.6(PRG4):c.3702A>G (p.Lys1234=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639662	NM_005807.6(PRG4):c.2586C>T (p.Thr862=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639661	NM_005807.6(PRG4):c.2466_2489del (p.Thr826_Glu833del)	PRG4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2639660	NM_005807.6(PRG4):c.2286T>C (p.Pro762=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639659	NM_005807.6(PRG4):c.2262T>C (p.Pro754=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639658	NM_005807.6(PRG4):c.2248G>A (p.Ala750Thr)	PRG4 (A616T +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639657	NM_005807.6(PRG4):c.1935T>A (p.Pro645=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639656	NM_005807.6(PRG4):c.1668C>T (p.Thr556=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639655	NM_005807.6(PRG4):c.1578C>T (p.Thr526=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639654	NM_005807.6(PRG4):c.1272C>T (p.Thr424=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639653	NM_005807.6(PRG4):c.1006G>A (p.Glu336Lys)	PRG4 (E202K +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639652	NM_005807.6(PRG4):c.996A>G (p.Thr332=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639651	NM_005807.6(PRG4):c.978A>G (p.Lys326=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639650	NM_005807.6(PRG4):c.879T>C (p.Asn293=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639649	NM_005807.6(PRG4):c.267A>G (p.Gln89=)	PRG4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639648	NM_005807.6(PRG4):c.198G>A (p.Ala66=)	PRG4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627391	NM_005807.6(PRG4):c.4029G>A (p.Trp1343Ter)	PRG4, TPR (W1209* +4 more)	Single nucleotide variant (nonsense +1 more)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GLikely pathogenic
Select item 2618028	NM_005807.6(PRG4):c.905A>T (p.Glu302Val)	PRG4 (E209V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616626	NM_005807.6(PRG4):c.3669A>G (p.Ile1223Met)	PRG4 (I1223M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603818	NM_005807.6(PRG4):c.1856C>A (p.Thr619Asn)	PRG4 (T526N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597239	NM_005807.6(PRG4):c.919G>A (p.Ala307Thr)	PRG4 (A214T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588900	NM_005807.6(PRG4):c.2455G>A (p.Ala819Thr)	PRG4 (A819T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577874	NM_005807.6(PRG4):c.2816_2817del (p.Lys939fs)	PRG4 (K805fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2577871	NM_005807.6(PRG4):c.1699del (p.Glu567fs)	PRG4 (E433fs +4 more)	Deletion (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2577870	NM_005807.6(PRG4):c.1134dup (p.Lys379fs)	PRG4 (K245fs +4 more)	Duplication (frameshift variant)	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	GPathogenic
Select item 2570744	NM_005807.6(PRG4):c.3560_3561del (p.Glu1187fs)	PRG4 (E1053fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2558322	NM_005807.6(PRG4):c.1132C>T (p.Pro378Ser)	PRG4 (P337S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551873	NM_005807.6(PRG4):c.354A>C (p.Lys118Asn)	PRG4 (K118N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541221	NM_005807.6(PRG4):c.1262C>T (p.Ala421Val)	PRG4 (A287V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535579	NM_005807.6(PRG4):c.202C>G (p.Leu68Val)	PRG4 (L27V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535502	NM_005807.6(PRG4):c.931C>A (p.Gln311Lys)	PRG4 (Q177K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532666	NM_005807.6(PRG4):c.2456C>T (p.Ala819Val)	PRG4 (A776V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531914	NM_005807.6(PRG4):c.1441G>A (p.Glu481Lys)	PRG4 (E481K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527811	NM_005807.6(PRG4):c.1576A>T (p.Thr526Ser)	PRG4 (T485S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525084	NM_005807.6(PRG4):c.2044C>T (p.Pro682Ser)	PRG4 (P639S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520899	NM_005807.6(PRG4):c.1457C>T (p.Ala486Val)	PRG4 (A393V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520705	NM_005807.6(PRG4):c.2509A>G (p.Thr837Ala)	PRG4 (T703A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520642	NM_005807.6(PRG4):c.2516C>A (p.Pro839His)	PRG4 (P705H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519390	NM_005807.6(PRG4):c.316G>A (p.Glu106Lys)	PRG4 (E106K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514156	NM_005807.6(PRG4):c.3173C>T (p.Thr1058Ile)	PRG4 (T1058I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508999	NM_005807.6(PRG4):c.1757C>T (p.Pro586Leu)	PRG4 (P493L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495329	NM_005807.6(PRG4):c.1550C>T (p.Thr517Ile)	PRG4 (T517I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494360	NM_005807.6(PRG4):c.2971A>G (p.Thr991Ala)	PRG4 (T857A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482300	NM_005807.6(PRG4):c.2480C>T (p.Ala827Val)	PRG4 (A693V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482299	NM_005807.6(PRG4):c.1421C>T (p.Pro474Leu)	PRG4 (P340L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479986	NM_005807.6(PRG4):c.3914A>G (p.Glu1305Gly)	PRG4, TPR (E1212G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468380	NM_005807.6(PRG4):c.2216A>G (p.Lys739Arg)	PRG4 (K739R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467718	NM_005807.6(PRG4):c.2425G>T (p.Gly809Trp)	PRG4 (G675W +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461799	NM_005807.6(PRG4):c.3455A>G (p.Asp1152Gly)	PRG4 (D1152G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454329	NM_005807.6(PRG4):c.1306G>A (p.Ala436Thr)	PRG4 (A302T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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