DPY19L2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 157255	NC_000012.12:g.63548869_63724778dup	DPY19L2, LOC108720144 +1 more	Duplication	Preeclampsia	Gnot provided
Select item 221743	GRCh38/hg38 12q14.2(chr12:63552276-63722379)x1	LOC130008194, DPY19L2	Copy number loss	Premature ovarian failure	GBenign
Select item 145752	GRCh38/hg38 12q14.2(chr12:63553952-63684390)x3	DPY19L2, LOC130008194	Copy number gain	See cases	GBenign
Select item 145751	GRCh38/hg38 12q14.2(chr12:63553952-63684390)x1	DPY19L2, LOC130008194	Copy number loss	See cases	GBenign
Select item 145012	GRCh38/hg38 12q14.2(chr12:63553952-63722729)x1	DPY19L2, LOC130008194	Copy number loss	See cases	GBenign/Likely benign
Select item 145010	GRCh38/hg38 12q14.2(chr12:63553952-63722729)x3	DPY19L2, LOC130008194	Copy number gain	See cases	GBenign/Likely benign
Select item 31083	NC_000012.12:g.(?_63558913)_(63669201_?)del	DPY19L2, LOC130008194	Deletion	Spermatogenic failure 9	GPathogenic
Select item 2372684	NM_173812.5(DPY19L2):c.2215G>A (p.Ala739Thr)	DPY19L2 (A739T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400101	NM_173812.5(DPY19L2):c.2212G>C (p.Asp738His)	DPY19L2 (D738H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408026	NM_173812.5(DPY19L2):c.2185C>T (p.Pro729Ser)	DPY19L2 (P729S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517094	NM_173812.5(DPY19L2):c.2120G>C (p.Arg707Thr)	DPY19L2 (R707T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458231	NM_173812.5(DPY19L2):c.2064A>T (p.Lys688Asn)	DPY19L2 (K688N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 101505	NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter)	DPY19L2 (K680*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2592563	NM_173812.5(DPY19L2):c.2006G>A (p.Arg669Gln)	DPY19L2 (R669Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441030	NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)	DPY19L2 (R606C)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GUncertain significance
Select item 2295934	NM_173812.5(DPY19L2):c.1797A>G (p.Ile599Met)	DPY19L2 (I599M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085613	NM_173812.5(DPY19L2):c.1777A>G (p.Ile593Val)	DPY19L2 (I593V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085612	NM_173812.5(DPY19L2):c.1768A>T (p.Ile590Phe)	DPY19L2 (I590F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366065	NM_173812.5(DPY19L2):c.1667T>A (p.Leu556Gln)	DPY19L2 (L556Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300243	NM_173812.5(DPY19L2):c.1645C>A (p.Leu549Ile)	DPY19L2 (L549I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1709852	NM_173812.5(DPY19L2):c.1616A>G (p.His539Arg)	DPY19L2 (H539R)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GUncertain significance
Select item 783667	NM_173812.5(DPY19L2):c.1570A>T (p.Ile524Phe)	DPY19L2 (I524F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3085611	NM_173812.5(DPY19L2):c.1528A>G (p.Lys510Glu)	DPY19L2 (K510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399143	NM_173812.5(DPY19L2):c.1460C>T (p.Ala487Val)	DPY19L2 (A487V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578685	NM_173812.5(DPY19L2):c.1414A>T (p.Thr472Ser)	DPY19L2 (T472S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2394221	NM_173812.5(DPY19L2):c.1403C>G (p.Thr468Arg)	DPY19L2 (T468R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607286	NM_173812.5(DPY19L2):c.1336A>C (p.Lys446Gln)	DPY19L2 (K446Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351087	NM_173812.5(DPY19L2):c.1294G>A (p.Ala432Thr)	DPY19L2 (A432T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720483	NM_173812.5(DPY19L2):c.1218+10T>G	DPY19L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 101509	NM_173812.5(DPY19L2):c.1218+1G>A	DPY19L2	Single nucleotide variant (splice donor variant)	Spermatogenic failure 9	GPathogenic
Select item 2590619	NM_173812.5(DPY19L2):c.1213A>T (p.Thr405Ser)	DPY19L2 (T405S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 101506	NM_173812.5(DPY19L2):c.1183del (p.Ser395fs)	DPY19L2 (S395fs)	Deletion (frameshift variant)	Spermatogenic failure 9	GPathogenic
Select item 2617724	NM_173812.5(DPY19L2):c.1175T>C (p.Met392Thr)	DPY19L2 (M392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460620	NM_173812.5(DPY19L2):c.1166G>A (p.Gly389Glu)	DPY19L2 (G389E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407056	NM_173812.5(DPY19L2):c.975G>T (p.Arg325Ser)	DPY19L2 (R325S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355704	NM_173812.5(DPY19L2):c.968A>G (p.Asp323Gly)	DPY19L2 (D323G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676200	NM_173812.5(DPY19L2):c.893G>A (p.Arg298His)	DPY19L2	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 101508	NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys)	DPY19L2 (R298C)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 2556931	NM_173812.5(DPY19L2):c.880A>G (p.Thr294Ala)	DPY19L2 (T294A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612017	NM_173812.5(DPY19L2):c.869G>C (p.Arg290Pro)	DPY19L2 (R290P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 101504	NM_173812.5(DPY19L2):c.869G>A (p.Arg290His)	DPY19L2 (R290H)	Single nucleotide variant (missense variant)	Spermatogenic failure 9	GPathogenic
Select item 145692	GRCh38/hg38 12q14.2(chr12:63626512-63722729)x3	DPY19L2, LOC130008194	Copy number gain	See cases	GBenign
Select item 402795	NM_173812.5(DPY19L2):c.804-14_804-13dup	DPY19L2	Duplication (intron variant)	not specified	GBenign
Select item 3085618	NM_173812.5(DPY19L2):c.722C>T (p.Pro241Leu)	DPY19L2 (P241L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352395	NM_173812.5(DPY19L2):c.694G>A (p.Val232Ile)	DPY19L2 (V232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085617	NM_173812.5(DPY19L2):c.581A>T (p.Tyr194Phe)	DPY19L2 (Y194F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085616	NM_173812.5(DPY19L2):c.550A>T (p.Ile184Leu)	DPY19L2 (I184L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643156	NM_173812.5(DPY19L2):c.495G>A (p.Ser165=)	DPY19L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608972	NM_173812.5(DPY19L2):c.491C>G (p.Pro164Arg)	DPY19L2 (P164R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2798122	NM_173812.5(DPY19L2):c.451-9dup	DPY19L2	Duplication (intron variant)	not provided	GBenign
Select item 712121	NM_173812.5(DPY19L2):c.292G>T (p.Glu98Ter)	DPY19L2 (E98*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2323534	NM_173812.5(DPY19L2):c.269C>T (p.Ala90Val)	DPY19L2 (A90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352460	NM_173812.5(DPY19L2):c.242C>T (p.Pro81Leu)	DPY19L2 (P81L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3085614	NM_173812.5(DPY19L2):c.239G>A (p.Gly80Asp)	DPY19L2 (G80D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582906	NM_173812.5(DPY19L2):c.67C>T (p.Arg23Cys)	DPY19L2 (R23C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715043	NM_173812.5(DPY19L2):c.28C>T (p.Arg10Trp)	DPY19L2 (R10W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2243255	NM_173812.5(DPY19L2):c.5G>C (p.Arg2Thr)	DPY19L2 (R2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 831821	NC_000012.12:g.(?_63595966)_(63596037_?)del	DPY19L2	Deletion	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395672	GRCh37/hg19 12q14.2(chr12:63947732-64116509)x1	DPY19L2	Copy number loss	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221851	GRCh37/hg19 12q14.2(chr12:63946056-64116159)x3	DPY19L2	Copy number gain	Premature ovarian failure	GBenign
Select item 101507	NG_031909.1:g.(12232_26209)_(29173_47048)del	DPY19L2	Deletion	Spermatogenic failure 9	GPathogenic

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Items: 67