PRDM15[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066574, LOC130066575 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066796, LOC130066797 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC130066513, LOC130066514 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC126653326, LOC126653327 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	LOC130066833, LOC130066834 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	CBR1-AS1, CBR3 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066700, LOC130066701 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC130066665, LOC130066666 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653316, LOC126653317 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	LOC130066758, LOC130066759 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066436, LOC130066437 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	KRTAP13-3, KRTAP13-4 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	ABCG1, ADAMTS1 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, MIR6814 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC130066541, LOC130066542 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066593, LOC130066594 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066830, LOC130066831 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC129391220, LOC129391221 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LOC130066733, LOC130066734 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	AATBC, ABCG1 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	LOC130066879, LOC130066880 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	LOC108281150, LOC110121385 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AGPAT3, AIRE +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	LOC130066848, LOC130066849 +482 more	Copy number loss	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	LOC108254685, LOC108281139 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	AATBC, ABCG1 +416 more	Copy number loss	See cases	GPathogenic
Select item 155316	GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3	ABCG1, C2CD2 +114 more	Copy number gain	See cases	GLikely benign
Select item 151380	GRCh38/hg38 21q22.3(chr21:41702859-41855368)x3	LINC00112, LINC00479 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	LOC130066823, LOC130066824 +376 more	Copy number loss	See cases	GPathogenic
Select item 2381441	NM_001040424.3(PRDM15):c.3392C>T (p.Ala1131Val)	PRDM15 (A1197V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652684	NM_001040424.3(PRDM15):c.3306G>A (p.Thr1102=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652685	NM_001040424.3(PRDM15):c.3246G>A (p.Thr1082=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2560500	NM_001040424.3(PRDM15):c.3215C>G (p.Pro1072Arg)	PRDM15 (P1138R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409403	NM_001040424.3(PRDM15):c.3200C>T (p.Pro1067Leu)	PRDM15 (P1067L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527695	NM_001040424.3(PRDM15):c.3010A>T (p.Thr1004Ser)	PRDM15 (T1004S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624296	NM_001040424.3(PRDM15):c.2968A>C (p.Asn990His)	PRDM15 (N1010H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227234	NM_001040424.3(PRDM15):c.2767G>A (p.Glu923Lys)	PRDM15 (E989K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352869	NM_001040424.3(PRDM15):c.2506G>A (p.Asp836Asn)	PRDM15 (D48N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469386	NM_001040424.3(PRDM15):c.2500G>A (p.Val834Met)	PRDM15 (V46M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652686	NM_001040424.3(PRDM15):c.2496C>T (p.Cys832=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652687	NM_001040424.3(PRDM15):c.2493G>A (p.Thr831=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 871179	NM_001040424.3(PRDM15):c.2420G>A (p.Cys807Tyr)	PRDM15 (C827Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2219060	NM_001040424.3(PRDM15):c.2390C>T (p.Thr797Met)	PRDM15 (T9M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289779	NM_001040424.3(PRDM15):c.2384G>A (p.Arg795Gln)	PRDM15 (R815Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341258	NM_001040424.3(PRDM15):c.2334G>C (p.Glu778Asp)	PRDM15 (E798D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219977	NM_001040424.3(PRDM15):c.2231G>A (p.Arg744His)	PRDM15 (R810H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216745	NM_001040424.3(PRDM15):c.2213G>A (p.Arg738His)	PRDM15 (R758H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542963	NM_001040424.3(PRDM15):c.2029C>T (p.Arg677Cys)	LOC126653385, PRDM15 (R677C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362455	NM_001040424.3(PRDM15):c.1832A>C (p.Asn611Thr)	LOC126653385, PRDM15 (N611T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470342	NM_001040424.3(PRDM15):c.1801A>G (p.Ile601Val)	PRDM15, LOC126653385 (I621V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314308	NM_001040424.3(PRDM15):c.1768G>C (p.Ala590Pro)	PRDM15, LOC126653385 (A590P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544883	NM_001040424.3(PRDM15):c.1709G>A (p.Arg570His)	PRDM15 (R590H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380461	NM_001040424.3(PRDM15):c.1588C>T (p.Arg530Cys)	PRDM15 (R550C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509419	NM_001040424.3(PRDM15):c.1579A>G (p.Asn527Asp)	PRDM15 (N527D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408235	NM_001040424.3(PRDM15):c.1544G>A (p.Arg515Gln)	PRDM15 (R515Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388939	NM_001040424.3(PRDM15):c.1504A>G (p.Met502Val)	PRDM15 (M502V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211262	NM_001040424.3(PRDM15):c.1492C>T (p.Arg498Cys)	PRDM15 (R518C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302500	NM_001040424.3(PRDM15):c.1447G>A (p.Gly483Ser)	PRDM15 (G549S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507717	NM_001040424.3(PRDM15):c.1339G>A (p.Ala447Thr)	PRDM15 (A447T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478900	NM_001040424.3(PRDM15):c.1228C>T (p.Arg410Cys)	PRDM15 (R410C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247217	NM_001040424.3(PRDM15):c.1096G>A (p.Gly366Arg)	PRDM15 (G366R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212131	NM_001040424.3(PRDM15):c.1096G>C (p.Gly366Arg)	PRDM15 (G432R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261345	NM_001040424.3(PRDM15):c.1063C>T (p.His355Tyr)	PRDM15 (H421Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549526	NM_001040424.3(PRDM15):c.895G>A (p.Glu299Lys)	PRDM15 (E365K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652688	NM_001040424.3(PRDM15):c.894C>T (p.Thr298=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652689	NM_001040424.3(PRDM15):c.850G>A (p.Val284Met)	PRDM15 (V284M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2403341	NM_001040424.3(PRDM15):c.845T>C (p.Val282Ala)	PRDM15 (V348A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592692	NM_001040424.3(PRDM15):c.800G>A (p.Arg267Gln)	PRDM15 (R267Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363959	NM_001040424.3(PRDM15):c.692A>G (p.Gln231Arg)	PRDM15 (Q297R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536768	NM_001040424.3(PRDM15):c.691C>G (p.Gln231Glu)	PRDM15 (Q231E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623886	NM_001040424.3(PRDM15):c.638A>G (p.Asn213Ser)	PRDM15 (N213S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531866	NM_001040424.3(PRDM15):c.588G>T (p.Gln196His)	PRDM15 (Q196H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532500	NM_001040424.3(PRDM15):c.541G>A (p.Ala181Thr)	PRDM15 (A181T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652690	NM_001040424.3(PRDM15):c.520G>A (p.Ala174Thr)	LOC126653386, PRDM15 (A174T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2342198	NM_001040424.3(PRDM15):c.415G>A (p.Asp139Asn)	LOC126653386, PRDM15 (D205N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652691	NM_001040424.3(PRDM15):c.318C>T (p.Phe106=)	LOC126653386, PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2363282	NM_001040424.3(PRDM15):c.310G>A (p.Val104Met)	LOC126653386, PRDM15 (V104M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457575	NM_001040424.3(PRDM15):c.308C>G (p.Pro103Arg)	LOC126653386, PRDM15 (P103R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570456	NM_001040424.3(PRDM15):c.274T>C (p.Phe92Leu)	PRDM15 (F158L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486175	NM_001040424.3(PRDM15):c.212A>G (p.Lys71Arg)	PRDM15 (K137R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220224	NM_001040424.3(PRDM15):c.131+549T>A	PRDM15 (V106E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307184	NM_001040424.3(PRDM15):c.131+524A>C	PRDM15 (T98P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2334541	NM_001040424.3(PRDM15):c.131+502G>T	PRDM15 (Q90H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652692	NM_001040424.3(PRDM15):c.18C>T (p.Ser6=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2370650	NM_001040424.3(PRDM15):c.4G>A (p.Ala2Thr)	PRDM15 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2456927	NM_001040424.3(PRDM15):c.-9-1192C>T	PRDM15	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326542	NM_001040424.3(PRDM15):c.-9-1286G>A	PRDM15	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2652693	NM_001040424.3(PRDM15):c.-9-1296G>A	PRDM15	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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