79925[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 1269468	NC_000005.10:g.35617754C>T	SPEF2	Single nucleotide variant	not provided	GBenign
Select item 805986	NM_024867.4(SPEF2):c.13del (p.Leu5fs)	SPEF2 (L5fs)	Deletion (frameshift variant)	Spermatogenic failure 43	GPathogenic
Select item 2495960	NM_024867.4(SPEF2):c.83T>C (p.Phe28Ser)	SPEF2 (F28S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168864	NM_024867.4(SPEF2):c.91G>A (p.Gly31Ser)	SPEF2 (G31S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282434	NM_024867.4(SPEF2):c.161+156A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2356572	NM_024867.4(SPEF2):c.194G>T (p.Arg65Leu)	SPEF2 (R65L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403471	NM_024867.4(SPEF2):c.211A>C (p.Asn71His)	SPEF2 (N71H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1270915	NM_024867.4(SPEF2):c.220G>A (p.Gly74Ser)	SPEF2 (G74S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655395	NM_024867.4(SPEF2):c.222T>C (p.Gly74=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1182550	NM_024867.4(SPEF2):c.248A>G (p.His83Arg)	SPEF2 (H83R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036780	NM_024867.4(SPEF2):c.277G>A (p.Ala93Thr)	SPEF2 (A93T)	Single nucleotide variant (missense variant)	SPEF2-related condition	GLikely benign
Select item 722366	NM_024867.4(SPEF2):c.297A>G (p.Gln99=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3168842	NM_024867.4(SPEF2):c.304A>G (p.Ile102Val)	SPEF2 (I102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168849	NM_024867.4(SPEF2):c.364C>T (p.Arg122Cys)	SPEF2 (R122C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727928	NM_024867.4(SPEF2):c.398G>A (p.Ser133Asn)	SPEF2 (S133N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1181542	NM_024867.4(SPEF2):c.414+34C>T	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221024	NM_024867.4(SPEF2):c.415-121T>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3168853	NM_024867.4(SPEF2):c.437G>A (p.Arg146His)	SPEF2 (R146H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598181	NM_024867.4(SPEF2):c.452A>G (p.Asn151Ser)	SPEF2 (N151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168856	NM_024867.4(SPEF2):c.474G>T (p.Arg158Ser)	SPEF2 (R158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318585	NM_024867.4(SPEF2):c.574G>A (p.Asp192Asn)	SPEF2 (D192N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 403472	NM_024867.4(SPEF2):c.579T>C (p.Ile193=)	SPEF2	Single nucleotide variant (synonymous variant)	Spermatogenic failure 43 +2 more	GBenign
Select item 3024771	NM_024867.4(SPEF2):c.601A>G (p.Arg201Gly)	SPEF2 (R201G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608372	NM_024867.4(SPEF2):c.605G>A (p.Arg202Gln)	SPEF2 (R202Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257877	NM_024867.4(SPEF2):c.656A>C (p.Lys219Thr)	SPEF2 (K219T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531924	NM_024867.4(SPEF2):c.682G>A (p.Ala228Thr)	SPEF2 (A228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559562	NM_024867.4(SPEF2):c.699A>T (p.Lys233Asn)	SPEF2 (K233N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168862	NM_024867.4(SPEF2):c.704T>C (p.Met235Thr)	SPEF2 (M235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1287209	NM_024867.4(SPEF2):c.727-117A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269824	NM_024867.4(SPEF2):c.727-75C>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2209083	NM_024867.4(SPEF2):c.772G>C (p.Asp258His)	SPEF2 (D258H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375450	NM_024867.4(SPEF2):c.786A>C (p.Lys262Asn)	SPEF2 (K262N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241436	NM_024867.4(SPEF2):c.791+138T>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2271477	NM_024867.4(SPEF2):c.796T>C (p.Ser266Pro)	SPEF2 (S266P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495381	NM_024867.4(SPEF2):c.806C>T (p.Ser269Phe)	SPEF2 (S269F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3168863	NM_024867.4(SPEF2):c.829A>G (p.Thr277Ala)	SPEF2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655396	NM_024867.4(SPEF2):c.834C>T (p.Thr278=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 403473	NM_024867.4(SPEF2):c.861C>T (p.Asp287=)	SPEF2	Single nucleotide variant (synonymous variant)	Spermatogenic failure 43 +2 more	GBenign
Select item 2508984	NM_024867.4(SPEF2):c.878T>C (p.Ile293Thr)	SPEF2 (I293T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593833	NM_024867.4(SPEF2):c.935G>A (p.Arg312Gln)	SPEF2 (R312Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360169	NM_024867.4(SPEF2):c.952C>G (p.Gln318Glu)	SPEF2 (Q318E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655397	NM_024867.4(SPEF2):c.988C>A (p.Arg330=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2565055	NM_024867.4(SPEF2):c.1009C>T (p.Arg337Trp)	SPEF2 (R337W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362396	NM_024867.4(SPEF2):c.1010G>A (p.Arg337Gln)	SPEF2 (R337Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511933	NM_024867.4(SPEF2):c.1018C>T (p.Arg340Trp)	SPEF2 (R340W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402873	NM_024867.4(SPEF2):c.1037G>A (p.Arg346His)	SPEF2 (R346H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553625	NM_024867.4(SPEF2):c.1039A>G (p.Arg347Gly)	SPEF2 (R347G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533170	NM_024867.4(SPEF2):c.1045G>A (p.Ala349Thr)	SPEF2 (A349T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380757	NM_024867.4(SPEF2):c.1091A>G (p.Gln364Arg)	SPEF2 (Q364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259316	NM_024867.4(SPEF2):c.1097G>A (p.Arg366Lys)	SPEF2 (R366K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2568837	NM_024867.4(SPEF2):c.1130G>T (p.Arg377Leu)	SPEF2 (R377L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212433	NM_024867.4(SPEF2):c.1159C>G (p.Arg387Gly)	SPEF2 (R387G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524768	NM_024867.4(SPEF2):c.1166C>G (p.Ala389Gly)	SPEF2 (A389G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1262331	NM_024867.4(SPEF2):c.1167+46T>C	SPEF2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1277912	NM_024867.4(SPEF2):c.1168-85A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377902	NM_024867.4(SPEF2):c.1169C>G (p.Ala390Gly)	SPEF2 (A390G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525890	NM_024867.4(SPEF2):c.1220A>G (p.Lys407Arg)	SPEF2 (K407R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655398	NM_024867.4(SPEF2):c.1233T>C (p.Asp411=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 403482	NM_024867.4(SPEF2):c.1262G>A (p.Arg421His)	SPEF2 (R421H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2536448	NM_024867.4(SPEF2):c.1277A>G (p.Tyr426Cys)	SPEF2 (Y426C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212597	NM_024867.4(SPEF2):c.1300G>A (p.Asp434Asn)	SPEF2 (D434N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338920	NM_024867.4(SPEF2):c.1333G>A (p.Asp445Asn)	SPEF2 (D445N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 809743	NM_024867.4(SPEF2):c.1355+15dup	SPEF2	Duplication (intron variant)	not provided	GLikely benign
Select item 1275011	NM_024867.4(SPEF2):c.1355+150G>A	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571217	NM_024867.4(SPEF2):c.1356-5G>A	SPEF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2494417	NM_024867.4(SPEF2):c.1376T>C (p.Met459Thr)	SPEF2 (M459T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582765	NM_024867.4(SPEF2):c.1379A>G (p.His460Arg)	SPEF2 (H460R)	Single nucleotide variant (missense variant)	Spermatogenic failure 43	GUncertain significance
Select item 403474	NM_024867.4(SPEF2):c.1498G>A (p.Asp500Asn)	SPEF2 (D500N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1247405	NM_024867.4(SPEF2):c.1525-111C>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 722367	NM_024867.4(SPEF2):c.1569T>C (p.Asn523=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2313505	NM_024867.4(SPEF2):c.1610A>C (p.His537Pro)	SPEF2 (H537P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722368	NM_024867.4(SPEF2):c.1619C>T (p.Ala540Val)	SPEF2 (A540V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769650	NM_024867.4(SPEF2):c.1633C>T (p.Pro545Ser)	SPEF2 (P545S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 3168833	NM_024867.4(SPEF2):c.1640G>A (p.Arg547Gln)	SPEF2 (R547Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 805987	NM_024867.4(SPEF2):c.1745-2A>G	SPEF2	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 43	GPathogenic
Select item 3034024	NM_024867.4(SPEF2):c.1795C>T (p.Gln599Ter)	SPEF2 (Q599*)	Single nucleotide variant (nonsense)	SPEF2-related condition	GLikely pathogenic
Select item 2313264	NM_024867.4(SPEF2):c.1795C>G (p.Gln599Glu)	SPEF2 (Q599E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403475	NM_024867.4(SPEF2):c.1848T>A (p.Asn616Lys)	SPEF2 (N616K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2216962	NM_024867.4(SPEF2):c.1849G>A (p.Asp617Asn)	SPEF2 (D617N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1178513	NM_024867.4(SPEF2):c.1899+191G>A	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790021	NM_024867.4(SPEF2):c.1964A>G (p.Glu655Gly)	SPEF2 (E655G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1227803	NM_024867.4(SPEF2):c.1975+23del	SPEF2	Deletion (intron variant)	not provided	GBenign
Select item 403476	NM_024867.4(SPEF2):c.1983T>C (p.Asn661=)	SPEF2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1290188	NM_024867.4(SPEF2):c.2037+17A>C	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2392566	NM_024867.4(SPEF2):c.2096G>A (p.Ser699Asn)	SPEF2 (S699N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 722369	NM_024867.4(SPEF2):c.2127A>G (p.Ile709Met)	SPEF2 (I709M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1240821	NM_024867.4(SPEF2):c.2141+68A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179399	NM_024867.4(SPEF2):c.2141+130C>T	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260656	NM_024867.4(SPEF2):c.2141+187C>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250518	NM_024867.4(SPEF2):c.2142-226A>T	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246586	NM_024867.4(SPEF2):c.2142-171A>G	SPEF2	Single nucleotide variant (intron variant)	not provided	GBenign

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