PRDM16[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929179, LOC129929180 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58040	GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GPathogenic
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 153267	GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3	ACTRT2, LOC110120751 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 146771	GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GLikely benign
Select item 144367	GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1	ACTRT2, LOC105378604 +20 more	Copy number loss	See cases	GUncertain significance
Select item 144153	GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146248	GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	ACTRT2, ARHGEF16 +29 more	Copy number gain	See cases	GLikely benign
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 153985	GRCh38/hg38 1p36.32(chr1:2999618-3203165)x3	ACTRT2, LOC124903827 +8 more	Copy number gain	See cases	GUncertain significance
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 671193	NM_022114.3(PRDM16):c.-412G>A	LOC124903827, PRDM16	Single nucleotide variant	not provided	GBenign
Select item 1223395	NC_000001.11:g.3068981G>C	LOC124903827, PRDM16	Single nucleotide variant	not provided	GLikely benign
Select item 1276988	NC_000001.11:g.3069058GCG[7]	LOC124903827, PRDM16	Microsatellite	not provided	GBenign
Select item 649061	NC_000001.10:g.(?_2985804)_(2985880_?)dup	LOC124903827, PRDM16	Duplication	Left ventricular noncompaction 8	GUncertain significance
Select item 474400	NC_000001.11:g.(?_3069240)_(3433831_?)del	LOC105378604, LOC110120751 +14 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 509097	NM_022114.4(PRDM16):c.-17T>C	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 228319	NM_022114.4(PRDM16):c.-14C>A	LOC124903827, PRDM16	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 3336933	NM_022114.4(PRDM16):c.5G>C (p.Arg2Pro)	LOC124903827, PRDM16 (R2P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426495	NM_022114.4(PRDM16):c.5G>A (p.Arg2Gln)	PRDM16, LOC124903827 (R2Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 390136	NM_022114.4(PRDM16):c.21G>A (p.Ala7=)	LOC124903827, PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1087348	NM_022114.4(PRDM16):c.28C>T (p.Leu10=)	LOC124903827, PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1110471	NM_022114.4(PRDM16):c.30A>G (p.Leu10=)	LOC124903827, PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1943324	NM_022114.4(PRDM16):c.37+23_37+55del	PRDM16, LOC124903827	Deletion (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 674706	NM_022114.4(PRDM16):c.37+25C>G	LOC124903827, PRDM16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193752	NM_022114.4(PRDM16):c.37+256dup	LOC124903827, PRDM16	Duplication (intron variant)	not provided	GLikely benign
Select item 1201135	NM_022114.4(PRDM16):c.38-315C>T	PRDM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679886	NM_022114.4(PRDM16):c.38-169C>A	PRDM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214413	NM_022114.4(PRDM16):c.38-37C>T	PRDM16	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622005	NM_022114.4(PRDM16):c.38-20C>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1587332	NM_022114.4(PRDM16):c.38-20C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 2037602	NM_022114.4(PRDM16):c.38-19G>A	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8	GLikely benign
Select item 227038	NM_022114.4(PRDM16):c.38-15C>T	PRDM16	Single nucleotide variant (intron variant)	Left ventricular noncompaction 8 +2 more	GBenign
Select item 229168	NM_022114.4(PRDM16):c.38-14G>A	PRDM16	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 700796	NM_022114.4(PRDM16):c.39T>C (p.Ser13=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1083420	NM_022114.4(PRDM16):c.42C>T (p.Asp14=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 451384	NM_022114.4(PRDM16):c.43G>A (p.Gly15Ser)	PRDM16 (G15S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696820	NM_022114.4(PRDM16):c.48C>T (p.Asp16=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 569498	NM_022114.4(PRDM16):c.51_53del (p.Val18del)	PRDM16 (V18del)	Deletion (inframe_deletion)	Left ventricular noncompaction 8	GUncertain significance
Select item 474438	NM_022114.4(PRDM16):c.49G>T (p.Val17Phe)	PRDM16 (V17F)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 474437	NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)	PRDM16 (V17I)	Single nucleotide variant (missense variant)	PRDM16-related disorder +2 more	GLikely benign
Select item 3309777	NM_022114.4(PRDM16):c.55A>G (p.Asn19Asp)	PRDM16 (N19D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2921101	NM_022114.4(PRDM16):c.60T>C (p.Asn20=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2459507	NM_022114.4(PRDM16):c.71C>A (p.Pro24His)	PRDM16 (P24H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965479	NM_022114.4(PRDM16):c.72C>T (p.Pro24=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign
Select item 1199894	NM_022114.4(PRDM16):c.75C>T (p.Asn25=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GLikely benign
Select item 474439	NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)	PRDM16 (R26W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 650830	NM_022114.4(PRDM16):c.77G>A (p.Arg26Gln)	PRDM16 (R26Q)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 654772	NM_022114.4(PRDM16):c.91A>G (p.Ser31Gly)	PRDM16 (S31G)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 961865	NM_022114.4(PRDM16):c.93C>G (p.Ser31Arg)	PRDM16 (S31R)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	GUncertain significance
Select item 2144948	NM_022114.4(PRDM16):c.99C>T (p.Ser33=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8	GLikely benign

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