PRDM1[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 155190	GRCh38/hg38 6q21(chr6:105833853-106582592)x3	ATG5, CRYBG1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 155040	GRCh38/hg38 6q21(chr6:105922825-106683920)x3	ATG5, CRYBG1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2337351	NM_001198.4(PRDM1):c.28G>A (p.Val10Met)	PRDM1 (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511472	NM_001198.4(PRDM1):c.47C>T (p.Ala16Val)	PRDM1 (A16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527306	NM_001198.4(PRDM1):c.53A>G (p.Lys18Arg)	PRDM1 (K18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318129	NM_001198.4(PRDM1):c.73A>G (p.Arg25Gly)	PRDM1 (R25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518743	NM_001198.4(PRDM1):c.75G>C (p.Arg25Ser)	PRDM1 (R25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309737	NM_001198.4(PRDM1):c.189C>T (p.Asn63=)	PRDM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 135074	NM_001198.4(PRDM1):c.220G>A (p.Gly74Ser)	PRDM1 (G74S)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2509525	NM_001198.4(PRDM1):c.230T>C (p.Val77Ala)	PRDM1 (V77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053989	NM_001198.4(PRDM1):c.239A>T (p.Glu80Val)	PRDM1 (E80V)	Single nucleotide variant (missense variant)	PRDM1-related disorder	GLikely benign
Select item 2293809	NM_001198.4(PRDM1):c.250C>G (p.Pro84Ala)	PRDM1 (P84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666912	NM_001198.4(PRDM1):c.281del (p.Asn94fs)	PRDM1 (N94fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 716138	NM_001198.4(PRDM1):c.387C>T (p.Asn129=)	PRDM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3309738	NM_001198.4(PRDM1):c.425G>A (p.Gly142Glu)	LOC126859755, PRDM1 (G142E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135077	NM_001198.4(PRDM1):c.448G>A (p.Gly150Ser)	LOC126859755, PRDM1 (G150S +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3309740	NM_001198.4(PRDM1):c.500C>T (p.Ser167Phe)	PRDM1 (S167F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135075	NM_001198.4(PRDM1):c.502C>G (p.Pro168Ala)	PRDM1 (P168A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3309734	NM_001198.4(PRDM1):c.604C>T (p.Arg202Trp)	PRDM1 (R68W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218322	NM_001198.4(PRDM1):c.605G>A (p.Arg202Gln)	PRDM1 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135076	NM_001198.4(PRDM1):c.609C>G (p.Asp203Glu)	PRDM1 (D203E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3309736	NM_001198.4(PRDM1):c.640G>A (p.Gly214Arg)	PRDM1 (G80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218323	NM_001198.4(PRDM1):c.652A>G (p.Met218Val)	PRDM1 (M218V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407114	NM_001198.4(PRDM1):c.674A>G (p.Gln225Arg)	PRDM1 (Q91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410177	NM_001198.4(PRDM1):c.740A>G (p.Glu247Gly)	PRDM1 (E113G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218324	NM_001198.4(PRDM1):c.784A>G (p.Lys262Glu)	PRDM1 (K262E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135078	NM_001198.4(PRDM1):c.811A>G (p.Ile271Val)	PRDM1 (I271V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210764	NM_001198.4(PRDM1):c.841G>A (p.Asp281Asn)	PRDM1 (D147N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135085	NM_001198.4(PRDM1):c.857G>C (p.Arg286Pro)	PRDM1 (R286P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2464371	NM_001198.4(PRDM1):c.931A>C (p.Lys311Gln)	PRDM1 (K177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592271	NM_001198.4(PRDM1):c.1010C>A (p.Pro337His)	PRDM1 (P203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135086	NM_001198.4(PRDM1):c.1061G>A (p.Ser354Asn)	PRDM1 (S354N +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135081	NM_001198.4(PRDM1):c.1100C>T (p.Ser367Phe)	PRDM1 (S367F +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2555621	NM_001198.4(PRDM1):c.1136C>A (p.Ala379Glu)	PRDM1 (A245E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135088	NM_001198.4(PRDM1):c.1141T>C (p.Tyr381His)	PRDM1 (Y381H +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135079	NM_001198.4(PRDM1):c.1147A>G (p.Thr383Ala)	PRDM1 (T383A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135082	NM_001198.4(PRDM1):c.1148C>T (p.Thr383Met)	PRDM1 (T383M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3218316	NM_001198.4(PRDM1):c.1156T>A (p.Leu386Met)	PRDM1 (L252M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309739	NM_001198.4(PRDM1):c.1172G>A (p.Gly391Asp)	PRDM1 (G391D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293608	NM_001198.4(PRDM1):c.1192C>G (p.Leu398Val)	PRDM1 (L264V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268435	NM_001198.4(PRDM1):c.1195C>T (p.Pro399Ser)	PRDM1 (P399S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656804	NM_001198.4(PRDM1):c.1207A>G (p.Ile403Val)	PRDM1 (I269V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 135087	NM_001198.4(PRDM1):c.1222G>C (p.Ala408Pro)	PRDM1 (A408P +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135080	NM_001198.4(PRDM1):c.1306A>G (p.Asn436Asp)	PRDM1 (N436D +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2532568	NM_001198.4(PRDM1):c.1327C>G (p.Leu443Val)	PRDM1 (L309V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261344	NM_001198.4(PRDM1):c.1346A>G (p.Asn449Ser)	PRDM1 (N315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135083	NM_001198.4(PRDM1):c.1348C>T (p.Leu450Phe)	PRDM1 (L450F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2225021	NM_001198.4(PRDM1):c.1358G>A (p.Gly453Glu)	PRDM1 (G453E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293808	NM_001198.4(PRDM1):c.1388C>T (p.Pro463Leu)	PRDM1 (P463L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218318	NM_001198.4(PRDM1):c.1396C>T (p.Leu466Phe)	PRDM1 (L332F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135084	NM_001198.4(PRDM1):c.1400C>T (p.Pro467Leu)	PRDM1 (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2269320	NM_001198.4(PRDM1):c.1460T>C (p.Val487Ala)	PRDM1 (V487A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551872	NM_001198.4(PRDM1):c.1474C>T (p.Pro492Ser)	PRDM1 (P358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050600	NM_001198.4(PRDM1):c.1557G>A (p.Ala519=)	PRDM1	Single nucleotide variant (synonymous variant)	PRDM1-related disorder	GLikely benign
Select item 3309742	NM_001198.4(PRDM1):c.1591C>T (p.Pro531Ser)	PRDM1 (P397S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304403	NM_001198.4(PRDM1):c.1609G>A (p.Ala537Thr)	PRDM1 (A403T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218320	NM_001198.4(PRDM1):c.1630G>A (p.Asp544Asn)	PRDM1 (D544N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748986	NM_001198.4(PRDM1):c.1881A>G (p.Gly627=)	PRDM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3309733	NM_001198.4(PRDM1):c.1948C>A (p.Leu650Met)	PRDM1 (L516M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055453	NM_001198.4(PRDM1):c.1961C>T (p.Ser654Phe)	PRDM1 (S520F +1 more)	Single nucleotide variant (missense variant)	PRDM1-related disorder	GUncertain significance
Select item 3309735	NM_001198.4(PRDM1):c.2048G>A (p.Arg683Gln)	PRDM1 (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371702	NM_001198.4(PRDM1):c.2141C>T (p.Pro714Leu)	PRDM1 (P580L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520216	NM_001198.4(PRDM1):c.2186A>T (p.Glu729Val)	PRDM1 (E595V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135090	NM_001198.4(PRDM1):c.2233G>A (p.Val745Met)	PRDM1 (V745M +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 2234470	NM_001198.4(PRDM1):c.2284G>A (p.Val762Met)	PRDM1 (V628M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 135091	NM_001198.4(PRDM1):c.2312G>A (p.Gly771Asp)	PRDM1 (G771D +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3218321	NM_001198.4(PRDM1):c.2414G>A (p.Ser805Asn)	PRDM1 (S671N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 135089	NM_001198.4(PRDM1):c.2464C>A (p.Pro822Thr)	PRDM1 (P822T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1527273	GRCh37/hg19 6q21(chr6:105930050-107970442)	ATG5, BEND3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527272	GRCh37/hg19 6q21(chr6:105550491-107378236)	ATG5, BVES +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980219	GRCh37/hg19 6q21(chr6:106330947-106730123)x3	ATG5, PRDM1	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816617	GRCh37/hg19 6q21(chr6:106427169-106641115)x3	ATG5, PRDM1	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic
Select item 442063	GRCh37/hg19 6q16.1-21(chr6:97384446-110247755)x1	AFG1L, AK9 +44 more	Copy number loss	See cases	GPathogenic
Select item 253989	GRCh37/hg19 6q21(chr6:106281728-107019722)x3	CRYBG1, ATG5 +2 more	Copy number gain	See cases	GUncertain significance

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Items: 88