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	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +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	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +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	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +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	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +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	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 57360	GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1	ABCG1, B3GALT5 +224 more	Copy number loss	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +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	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +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	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 3218388	NM_001040424.3(PRDM15):c.3421T>A (p.Tyr1141Asn)	PRDM15 (Y1141N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381441	NM_001040424.3(PRDM15):c.3392C>T (p.Ala1131Val)	PRDM15 (A1197V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218386	NM_001040424.3(PRDM15):c.3313G>A (p.Ala1105Thr)	PRDM15 (A1171T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 3309760	NM_001040424.3(PRDM15):c.3299C>T (p.Pro1100Leu)	PRDM15 (P1100L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	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)	not specified	GUncertain significance
Select item 3218384	NM_001040424.3(PRDM15):c.3197A>T (p.Gln1066Leu)	PRDM15 (Q1086L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218383	NM_001040424.3(PRDM15):c.3032C>T (p.Ala1011Val)	PRDM15 (A223V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3218382	NM_001040424.3(PRDM15):c.2984C>T (p.Ser995Leu)	PRDM15 (S1061L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3309766	NM_001040424.3(PRDM15):c.2924C>T (p.Ala975Val)	PRDM15 (A975V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218381	NM_001040424.3(PRDM15):c.2779G>A (p.Gly927Arg)	PRDM15 (G993R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3309765	NM_001040424.3(PRDM15):c.2728G>A (p.Val910Ile)	PRDM15 (V910I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309764	NM_001040424.3(PRDM15):c.2710G>A (p.Ala904Thr)	PRDM15 (A970T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218380	NM_001040424.3(PRDM15):c.2707G>A (p.Asp903Asn)	PRDM15 (D969N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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 +1 more	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3218378	NM_001040424.3(PRDM15):c.2314A>G (p.Lys772Glu)	PRDM15 (K772E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309767	NM_001040424.3(PRDM15):c.2258A>G (p.Lys753Arg)	PRDM15 (K773R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3309768	NM_001040424.3(PRDM15):c.1936A>G (p.Met646Val)	LOC126653385, PRDM15 (M666V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309756	NM_001040424.3(PRDM15):c.1862C>T (p.Ser621Leu)	LOC126653385, PRDM15 (S641L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3218377	NM_001040424.3(PRDM15):c.1804G>A (p.Gly602Ser)	LOC126653385, PRDM15 (G602S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470342	NM_001040424.3(PRDM15):c.1801A>G (p.Ile601Val)	LOC126653385, PRDM15 (I621V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314308	NM_001040424.3(PRDM15):c.1768G>C (p.Ala590Pro)	LOC126653385, PRDM15 (A590P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309769	NM_001040424.3(PRDM15):c.1721G>A (p.Arg574His)	PRDM15 (R640H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3218375	NM_001040424.3(PRDM15):c.1589G>A (p.Arg530His)	PRDM15 (R596H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3218374	NM_001040424.3(PRDM15):c.1306G>A (p.Gly436Ser)	PRDM15 (G436S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3218373	NM_001040424.3(PRDM15):c.1213G>A (p.Ala405Thr)	PRDM15 (A405T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3218372	NM_001040424.3(PRDM15):c.1091A>C (p.Gln364Pro)	PRDM15 (Q364P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3218371	NM_001040424.3(PRDM15):c.1033C>T (p.Leu345Phe)	PRDM15 (L345F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218370	NM_001040424.3(PRDM15):c.1031C>T (p.Thr344Met)	PRDM15 (T344M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250733	NM_001040424.3(PRDM15):c.1026C>T (p.Thr342=)	PRDM15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3218368	NM_001040424.3(PRDM15):c.909T>G (p.Asp303Glu)	PRDM15 (D369E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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