ClinVar for Gene (Select 56979) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309846	NM_020227.4(PRDM9):c.274G>T (p.Asp92Tyr)	PRDM9 (D92Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309845	NM_020227.4(PRDM9):c.577G>A (p.Glu193Lys)	PRDM9 (E193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309844	NM_020227.4(PRDM9):c.364G>T (p.Ala122Ser)	PRDM9 (A122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309843	NM_020227.4(PRDM9):c.872A>C (p.Tyr291Ser)	PRDM9 (Y291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309842	NM_020227.4(PRDM9):c.1720C>T (p.His574Tyr)	PRDM9 (H574Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309841	NM_020227.4(PRDM9):c.562G>T (p.Gly188Cys)	PRDM9 (G188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309840	NM_020227.4(PRDM9):c.2377A>G (p.Ser793Gly)	PRDM9 (S793G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309839	NM_020227.4(PRDM9):c.1539T>G (p.Phe513Leu)	PRDM9 (F513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309838	NM_020227.4(PRDM9):c.2528A>G (p.Asn843Ser)	PRDM9 (N843S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218483	NM_020227.4(PRDM9):c.838A>G (p.Ile280Val)	PRDM9 (I280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218482	NM_020227.4(PRDM9):c.621G>A (p.Met207Ile)	PRDM9 (M207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218481	NM_020227.4(PRDM9):c.530A>C (p.Glu177Ala)	PRDM9 (E177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218480	NM_020227.4(PRDM9):c.2615G>C (p.Arg872Thr)	PRDM9 (R872T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218479	NM_020227.4(PRDM9):c.2195A>C (p.Lys732Thr)	PRDM9 (K732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218478	NM_020227.4(PRDM9):c.2065G>A (p.Glu689Lys)	PRDM9 (E689K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218477	NM_020227.4(PRDM9):c.1976C>T (p.Thr659Ile)	PRDM9 (T659I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218476	NM_020227.4(PRDM9):c.1949T>A (p.Val650Asp)	PRDM9 (V650D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218475	NM_020227.4(PRDM9):c.1933T>A (p.Phe645Ile)	PRDM9 (F645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218474	NM_020227.4(PRDM9):c.1681T>C (p.Phe561Leu)	PRDM9 (F561L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218473	NM_020227.4(PRDM9):c.1675C>T (p.Arg559Trp)	PRDM9 (R559W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218472	NM_020227.4(PRDM9):c.1411G>A (p.Glu471Lys)	PRDM9 (E471K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218471	NM_020227.4(PRDM9):c.1049G>A (p.Gly350Asp)	PRDM9 (G350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3062865	GRCh37/hg19 5p14.3-14.1(chr5:20705662-26089042)x3	CDH10, CDH12 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3055641	NM_020227.4(PRDM9):c.1024A>G (p.Arg342Gly)	PRDM9 (R342G)	Single nucleotide variant (missense variant)	PRDM9-related disorder	GLikely benign
Select item 3052780	NM_020227.4(PRDM9):c.968G>A (p.Arg323Gln)	PRDM9 (R323Q)	Single nucleotide variant (missense variant)	PRDM9-related disorder	GLikely benign
Select item 3052715	NM_020227.4(PRDM9):c.696G>C (p.Lys232Asn)	PRDM9 (K232N)	Single nucleotide variant (missense variant)	PRDM9-related disorder	GLikely benign
Select item 3039403	NM_020227.4(PRDM9):c.2127T>A (p.Thr709=)	PRDM9	Single nucleotide variant (synonymous variant)	PRDM9-related disorder	GLikely benign
Select item 3039250	NM_020227.4(PRDM9):c.2126C>G (p.Thr709Ser)	PRDM9 (T709S)	Single nucleotide variant (missense variant)	PRDM9-related disorder	GLikely benign
Select item 3038618	NM_020227.4(PRDM9):c.1016T>A (p.Ile339Asn)	PRDM9 (I339N)	Single nucleotide variant (missense variant)	PRDM9-related disorder	GLikely benign
Select item 3025107	NM_020227.4(PRDM9):c.1084G>A (p.Gly362Ser)	PRDM9 (G362S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2655374	NM_020227.4(PRDM9):c.2583C>T (p.Val861=)	PRDM9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655373	NM_020227.4(PRDM9):c.2043T>A (p.Thr681=)	PRDM9 (S681R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2655372	NM_020227.4(PRDM9):c.993G>A (p.Val331=)	PRDM9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600247	NM_020227.4(PRDM9):c.2327A>G (p.Tyr776Cys)	PRDM9 (Y776C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556973	NM_020227.4(PRDM9):c.1108G>C (p.Gly370Arg)	PRDM9 (G370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542799	NM_020227.4(PRDM9):c.170A>G (p.Asn57Ser)	PRDM9 (N57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542292	NM_020227.4(PRDM9):c.1327G>A (p.Asp443Asn)	PRDM9 (D443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540486	NM_020227.4(PRDM9):c.287C>T (p.Thr96Ile)	PRDM9 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523297	NM_020227.4(PRDM9):c.772C>T (p.Leu258Phe)	PRDM9 (L258F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487343	NM_020227.4(PRDM9):c.1796A>G (p.Gln599Arg)	PRDM9 (Q599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479927	NM_020227.4(PRDM9):c.1310A>G (p.Gln437Arg)	PRDM9 (Q437R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478699	NM_020227.4(PRDM9):c.1546G>A (p.Val516Ile)	PRDM9 (V516I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478174	NM_020227.4(PRDM9):c.657T>A (p.His219Gln)	PRDM9 (H219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476242	NM_020227.4(PRDM9):c.2099G>A (p.Gly700Asp)	PRDM9 (G700D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475018	NM_020227.4(PRDM9):c.769G>T (p.Gly257Trp)	PRDM9 (G257W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472680	NM_020227.4(PRDM9):c.2605T>A (p.Phe869Ile)	PRDM9 (F869I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471057	NM_020227.4(PRDM9):c.1676G>A (p.Arg559Gln)	PRDM9 (R559Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395648	NM_020227.4(PRDM9):c.55G>A (p.Glu19Lys)	PRDM9 (E19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387520	NM_020227.4(PRDM9):c.1339C>T (p.Arg447Cys)	PRDM9 (R447C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376134	NM_020227.4(PRDM9):c.1628A>G (p.Gln543Arg)	PRDM9 (Q543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362134	NM_020227.4(PRDM9):c.265G>A (p.Glu89Lys)	PRDM9 (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358543	NM_020227.4(PRDM9):c.337C>T (p.Arg113Cys)	PRDM9 (R113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327374	NM_020227.4(PRDM9):c.1297G>A (p.Gly433Arg)	PRDM9 (G433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321197	NM_020227.4(PRDM9):c.1828T>A (p.Cys610Ser)	PRDM9 (C610S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293810	NM_020227.4(PRDM9):c.2136G>T (p.Arg712Ser)	PRDM9 (R712S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291651	NM_020227.4(PRDM9):c.580G>A (p.Val194Ile)	PRDM9 (V194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279356	NM_020227.4(PRDM9):c.1895G>T (p.Gly632Val)	PRDM9 (G632V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274148	NM_020227.4(PRDM9):c.20A>G (p.Gln7Arg)	PRDM9 (Q7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262954	NM_020227.4(PRDM9):c.355A>T (p.Met119Leu)	PRDM9 (M119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262367	NM_020227.4(PRDM9):c.1975A>G (p.Thr659Ala)	PRDM9 (T659A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257163	NM_020227.4(PRDM9):c.2300A>G (p.Gln767Arg)	PRDM9 (Q767R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249964	NM_020227.4(PRDM9):c.2264G>C (p.Arg755Pro)	PRDM9 (R755P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227813	NM_020227.4(PRDM9):c.2087A>G (p.Glu696Gly)	PRDM9 (E696G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226818	NM_020227.4(PRDM9):c.1220T>C (p.Val407Ala)	PRDM9 (V407A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223761	NM_020227.4(PRDM9):c.463T>G (p.Ser155Ala)	PRDM9 (S155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1295150	NM_020227.4(PRDM9):c.301+43_301+44del	PRDM9	Deletion (intron variant)	not provided	GBenign
Select item 1278507	NM_020227.4(PRDM9):c.883-52C>T	PRDM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252878	NM_020227.4(PRDM9):c.301+67A>G	PRDM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250528	NM_020227.4(PRDM9):c.*37A>G	PRDM9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249566	NM_020227.4(PRDM9):c.301+44del	PRDM9	Deletion (intron variant)	not provided	GBenign
Select item 1246202	NM_020227.4(PRDM9):c.*125G>A	PRDM9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1242393	NM_020227.4(PRDM9):c.301+185G>T	PRDM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239553	NM_020227.4(PRDM9):c.1145-188T>A	PRDM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226826	NM_020227.4(PRDM9):c.509-41C>T	PRDM9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180241	NC_000005.10:g.23528117C>T	PRDM9	Single nucleotide variant	not provided	GBenign
Select item 1120013	NM_020227.4(PRDM9):c.677A>T (p.Lys226Met)	PRDM9 (K226M)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120012	NM_020227.4(PRDM9):c.638T>G (p.Ile213Ser)	PRDM9 (I213S)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1120011	NM_020227.4(PRDM9):c.229C>T (p.Arg77Ter)	PRDM9 (R77*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979513	GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3	LINC02899, MYO10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979511	GRCh37/hg19 5p14.3-14.2(chr5:22546550-23554888)x1	PRDM9, CDH12	Copy number loss	not provided	GUncertain significance
Select item 979510	GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3	CDH9, LINC02899 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979508	GRCh37/hg19 5p14.2(chr5:23486168-23572704)x1	PRDM9	Copy number loss	not provided	GLikely benign
Select item 814675	GRCh37/hg19 5p14.3-14.2(chr5:22840105-23682150)x4	PRDM9, CDH12	Copy number gain	not provided	GUncertain significance
Select item 814673	GRCh37/hg19 5p14.3-14.2(chr5:22265414-24492214)x3	CDH12, CDH10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 791624	NM_020227.4(PRDM9):c.432C>T (p.Gly144=)	PRDM9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769646	NM_020227.4(PRDM9):c.90C>T (p.Asp30=)	PRDM9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance

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