ClinVar for Gene (Select 59335) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365401	NM_021619.3(PRDM12):c.6G>A (p.Met2Ile)	PRDM12 (M2I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309748	NM_021619.3(PRDM12):c.59C>G (p.Pro20Arg)	PRDM12 (P20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245345	NC_000009.11:g.(?_133540041)_(133761070_?)del	ABL1, EXOSC2 +1 more	Deletion	not provided	GUncertain significance
Select item 3245343	NC_000009.11:g.(?_133540041)_(133884994_?)dup	ABL1, EXOSC2 +4 more	Duplication	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	BARHL1, C9orf50 +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3218346	NM_021619.3(PRDM12):c.641G>T (p.Gly214Val)	PRDM12 (G214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218344	NM_021619.3(PRDM12):c.58C>T (p.Pro20Ser)	PRDM12 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218343	NM_021619.3(PRDM12):c.496T>C (p.Cys166Arg)	PRDM12 (C166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218342	NM_021619.3(PRDM12):c.473G>A (p.Arg158Gln)	PRDM12 (R158Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218341	NM_021619.3(PRDM12):c.371C>A (p.Pro124Gln)	LOC126860775, PRDM12 (P124Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065701	NM_021619.3(PRDM12):c.286C>T (p.Pro96Ser)	LOC126860775, PRDM12 (P96S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3017394	NM_021619.3(PRDM12):c.592C>T (p.Leu198=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 3001568	NM_021619.3(PRDM12):c.683-18G>C	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2995735	NM_021619.3(PRDM12):c.414+9G>C	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2980851	NM_021619.3(PRDM12):c.471C>T (p.His157=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2920472	NM_021619.3(PRDM12):c.415-13C>A	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2913168	NM_021619.3(PRDM12):c.1009C>T (p.Leu337=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2912479	NM_021619.3(PRDM12):c.723C>T (p.Gly241=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2912240	NM_021619.3(PRDM12):c.714C>A (p.Gly238=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2911353	NM_021619.3(PRDM12):c.683-27CCCCG[2]	LOC130002813, PRDM12	Microsatellite (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2910086	NM_021619.3(PRDM12):c.318G>A (p.Thr106=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2900382	NM_021619.3(PRDM12):c.224-7G>A	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2895764	NM_021619.3(PRDM12):c.683-17C>T	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2895347	NM_021619.3(PRDM12):c.224-5C>T	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2892371	NM_021619.3(PRDM12):c.528G>A (p.Glu176=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2891191	NM_021619.3(PRDM12):c.771C>T (p.Asn257=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2880026	NM_021619.3(PRDM12):c.223+9A>G	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2867954	NM_021619.3(PRDM12):c.972_985dup (p.Ala329fs)	PRDM12 (A329fs)	Duplication (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2849244	NM_021619.3(PRDM12):c.1062C>T (p.Ala354=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2847927	NM_021619.3(PRDM12):c.683-18G>A	LOC130002813, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2784337	NM_021619.3(PRDM12):c.415-15T>G	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2782693	NM_021619.3(PRDM12):c.93C>T (p.Asp31=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2782172	NM_021619.3(PRDM12):c.735C>T (p.Cys245=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2738476	NM_021619.3(PRDM12):c.75C>A (p.Ala25=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2733578	NM_021619.3(PRDM12):c.250C>T (p.Leu84=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2732125	NM_021619.3(PRDM12):c.224-8C>G	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2731799	NM_021619.3(PRDM12):c.224-7G>T	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2728024	NM_021619.3(PRDM12):c.682+19dup	PRDM12	Duplication (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GBenign
Select item 2721131	NM_021619.3(PRDM12):c.415-20C>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2720556	NM_021619.3(PRDM12):c.744C>T (p.Cys248=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2718166	NM_021619.3(PRDM12):c.177C>T (p.Pro59=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2716722	NM_021619.3(PRDM12):c.372G>A (p.Pro124=)	LOC126860775, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2716247	NM_021619.3(PRDM12):c.702C>T (p.Asp234=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2715630	NM_021619.3(PRDM12):c.168C>T (p.His56=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2706647	NM_021619.3(PRDM12):c.578dup (p.Pro194fs)	PRDM12 (P194fs)	Duplication (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 2693056	NM_021619.3(PRDM12):c.663C>T (p.Asp221=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2685365	GRCh37/hg19 9q34.11-34.12(chr9:132590008-133880465)x1	ABL1, ASS1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2614523	NM_021619.3(PRDM12):c.425A>G (p.Glu142Gly)	PRDM12 (E142G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534490	NM_021619.3(PRDM12):c.982A>G (p.Thr328Ala)	PRDM12 (T328A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2534489	NM_021619.3(PRDM12):c.715C>A (p.Pro239Thr)	LOC130002813, PRDM12 (P239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2524119	NM_021619.3(PRDM12):c.341T>C (p.Met114Thr)	LOC126860775, PRDM12 (M114T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513661	NM_021619.3(PRDM12):c.2T>C (p.Met1Thr)	PRDM12 (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2375820	NM_021619.3(PRDM12):c.223G>A (p.Glu75Lys)	PRDM12 (E75K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327626	NM_021619.3(PRDM12):c.983C>T (p.Thr328Ile)	PRDM12 (T328I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239577	NM_021619.3(PRDM12):c.983C>G (p.Thr328Ser)	PRDM12 (T328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239575	NM_021619.3(PRDM12):c.982A>T (p.Thr328Ser)	PRDM12 (T328S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239574	NM_021619.3(PRDM12):c.976C>G (p.Pro326Ala)	PRDM12 (P326A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236236	NM_021619.3(PRDM12):c.974C>T (p.Pro325Leu)	PRDM12 (P325L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200567	NM_021619.3(PRDM12):c.570+17G>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2199746	NM_021619.3(PRDM12):c.1076C>T (p.Ala359Val)	PRDM12 (A359V)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2198000	NM_021619.3(PRDM12):c.128A>G (p.Asn43Ser)	PRDM12 (N43S)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2179478	NM_021619.3(PRDM12):c.138G>A (p.Gly46=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2178230	NM_021619.3(PRDM12):c.989T>C (p.Leu330Pro)	PRDM12 (L330P)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2177808	NM_021619.3(PRDM12):c.1007C>T (p.Ala336Val)	PRDM12 (A336V)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2158419	NM_021619.3(PRDM12):c.31C>A (p.Leu11Met)	PRDM12 (L11M)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2158270	NM_021619.3(PRDM12):c.224-14C>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2153067	NM_021619.3(PRDM12):c.224-15G>T	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2148139	NM_021619.3(PRDM12):c.996A>C (p.Ala332=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2148033	NM_021619.3(PRDM12):c.1001C>T (p.Ser334Leu)	PRDM12 (S334L)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2145918	NM_021619.3(PRDM12):c.1035C>T (p.Pro345=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2143987	NM_021619.3(PRDM12):c.70C>T (p.Leu24=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2142650	NM_021619.3(PRDM12):c.224-11C>G	LOC126860775, PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2142018	NM_021619.3(PRDM12):c.1005C>G (p.Pro335=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2130551	NM_021619.3(PRDM12):c.1043_1044insTGC (p.Ala359_His360insAla)	PRDM12	Insertion (inframe_insertion)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2126604	NM_021619.3(PRDM12):c.662A>C (p.Asp221Ala)	PRDM12 (D221A)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2121418	NM_021619.3(PRDM12):c.367G>A (p.Ala123Thr)	LOC126860775, PRDM12 (A123T)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2121350	NM_021619.3(PRDM12):c.48G>A (p.Gly16=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2111734	NM_021619.3(PRDM12):c.683-8G>C	PRDM12, LOC130002813	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2093520	NM_021619.3(PRDM12):c.388T>C (p.Cys130Arg)	LOC126860775, PRDM12 (C130R)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2092371	NM_021619.3(PRDM12):c.303del (p.Ile102fs)	LOC126860775, PRDM12 (I102fs)	Deletion (frameshift variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GPathogenic
Select item 2084987	NM_021619.3(PRDM12):c.682+8T>A	PRDM12	Single nucleotide variant (intron variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2083542	NM_021619.3(PRDM12):c.708G>C (p.Ala236=)	LOC130002813, PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2078331	NM_021619.3(PRDM12):c.945C>G (p.Arg315=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2075854	NM_021619.3(PRDM12):c.975G>A (p.Pro325=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2071798	NM_021619.3(PRDM12):c.439C>T (p.Arg147Cys)	PRDM12 (R147C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2067805	NM_021619.3(PRDM12):c.794A>C (p.His265Pro)	PRDM12 (H265P)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2063792	NM_021619.3(PRDM12):c.570+1GT[3]	PRDM12	Microsatellite (splice donor variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2063146	NM_021619.3(PRDM12):c.738C>T (p.Val246=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2056762	NM_021619.3(PRDM12):c.57G>T (p.Ala19=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2047624	NM_021619.3(PRDM12):c.431G>C (p.Gly144Ala)	PRDM12 (G144A)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2046913	NM_021619.3(PRDM12):c.897C>T (p.Tyr299=)	PRDM12	Single nucleotide variant (synonymous variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GLikely benign
Select item 2046683	NM_021619.3(PRDM12):c.996_1016dup (p.Ala339_Pro340insHisSerProAlaLeuProAla)	PRDM12	Duplication (inframe_insertion)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2046277	NM_021619.3(PRDM12):c.16C>T (p.Leu6Phe)	PRDM12 (L6F)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance
Select item 2044284	NM_021619.3(PRDM12):c.400A>C (p.Asn134His)	LOC126860775, PRDM12 (N134H)	Single nucleotide variant (missense variant)	Congenital insensitivity to pain-hypohidrosis syndrome	GUncertain significance

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