2798[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 59451	GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)x1	LOC129992665, LOC129992666 +103 more	Copy number loss	See cases	GPathogenic
Select item 57351	GRCh38/hg38 4q13.2(chr4:65873016-68743024)x3	CENPC, GNRHR +32 more	Copy number gain	See cases	GUncertain significance
Select item 57091	GRCh38/hg38 4q13.2-13.3(chr4:66842408-70831557)x1	AMBN, AMTN +76 more	Copy number loss	See cases	GPathogenic
Select item 349417	NM_000406.3(GNRHR):c.*3076T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 905842	NM_000406.3(GNRHR):c.*3011T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349418	NM_000406.3(GNRHR):c.*2919A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349419	NM_000406.3(GNRHR):c.*2802T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906354	NM_000406.3(GNRHR):c.*2772A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906355	NM_000406.3(GNRHR):c.*2767T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 906356	NM_000406.3(GNRHR):c.*2748C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349420	NM_000406.3(GNRHR):c.*2663G>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 906357	NM_000406.3(GNRHR):c.*2588C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349421	NM_000406.3(GNRHR):c.*2496G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 906358	NM_000406.3(GNRHR):c.*2441T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 349422	NM_000406.3(GNRHR):c.*2328A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907361	NM_000406.3(GNRHR):c.*2248T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907362	NM_000406.3(GNRHR):c.*2244T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907363	NM_000406.3(GNRHR):c.*2196G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349423	NM_000406.3(GNRHR):c.*2166G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 349424	NM_000406.3(GNRHR):c.*2165A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349425	NM_000406.3(GNRHR):c.*2055G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 349426	NM_000406.3(GNRHR):c.*2032dup	GNRHR	Duplication (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 349427	NM_000406.3(GNRHR):c.*2031dup	GNRHR	Duplication (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 349428	NM_000406.3(GNRHR):c.*1984T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349429	NM_000406.3(GNRHR):c.*1948C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349430	NM_000406.3(GNRHR):c.*1892C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349431	NM_000406.3(GNRHR):c.*1891T>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GBenign
Select item 904025	NM_000406.3(GNRHR):c.*1797A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349432	NM_000406.3(GNRHR):c.*1654C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349433	NM_000406.3(GNRHR):c.*1575del	GNRHR	Deletion (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 904026	NM_000406.3(GNRHR):c.*1532C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349434	NM_000406.3(GNRHR):c.*1347A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904027	NM_000406.3(GNRHR):c.*1302G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904805	NM_000406.3(GNRHR):c.*1301A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349435	NM_000406.3(GNRHR):c.*1295dup	GNRHR	Duplication (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 904806	NM_000406.3(GNRHR):c.*1275G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349436	NM_000406.3(GNRHR):c.*1260G>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349437	NM_000406.3(GNRHR):c.*1248A>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349438	NM_000406.3(GNRHR):c.*1193C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349439	NM_000406.3(GNRHR):c.*1155del	GNRHR	Deletion (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 349440	NM_000406.3(GNRHR):c.*1144A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904807	NM_000406.3(GNRHR):c.*928C>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904808	NM_000406.3(GNRHR):c.*912C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349441	NM_000406.3(GNRHR):c.*832T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349442	NM_000406.3(GNRHR):c.*829T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349443	NM_000406.3(GNRHR):c.*819A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349444	NM_000406.3(GNRHR):c.*809C>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349445	NM_000406.3(GNRHR):c.*806G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349446	NM_000406.3(GNRHR):c.*802G>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GBenign
Select item 349447	NM_000406.3(GNRHR):c.*730T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 906416	NM_000406.3(GNRHR):c.*696A>T	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907417	NM_000406.3(GNRHR):c.*668G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907418	NM_000406.3(GNRHR):c.*662T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907419	NM_000406.3(GNRHR):c.*622T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 349448	NM_000406.3(GNRHR):c.*583A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 349449	NM_000406.3(GNRHR):c.*513dup	GNRHR	Duplication (3 prime UTR variant)	Isolated GnRH Deficiency	GUncertain significance
Select item 349450	NM_000406.3(GNRHR):c.*495T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 907420	NM_000406.3(GNRHR):c.*474T>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907421	NM_000406.3(GNRHR):c.*466T>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 907422	NM_000406.3(GNRHR):c.*385A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely benign
Select item 349451	NM_000406.3(GNRHR):c.*349A>C	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 904090	NM_000406.3(GNRHR):c.*193A>G	GNRHR	Single nucleotide variant (3 prime UTR variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 1188166	NM_000406.3(GNRHR):c.*78G>A	GNRHR	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 778142	NM_000406.3(GNRHR):c.981T>C (p.Ser327=)	GNRHR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2414836	NM_000406.3(GNRHR):c.969T>C (p.Tyr323=)	GNRHR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16036	NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu)	GNRHR (P320L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 16029	NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter)	GNRHR (L314*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 2269477	NM_000406.3(GNRHR):c.910G>C (p.Val304Leu)	GNRHR (V304L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3100703	NM_000406.3(GNRHR):c.888G>C (p.Met296Ile)	GNRHR (M296I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1722804	NM_000406.3(GNRHR):c.868T>C (p.Tyr290His)	GNRHR (V247A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16025	NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)	GNRHR (Y284C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 2002400	NM_000406.3(GNRHR):c.848A>C (p.Tyr283Ser)	GNRHR (Y283S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755816	NM_000406.3(GNRHR):c.847T>C (p.Tyr283His)	GNRHR (Y283H +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GPathogenic
Select item 1709893	NM_000406.3(GNRHR):c.845C>T (p.Pro282Leu)	GNRHR (P282L)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GLikely pathogenic
Select item 126540	NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile)	GNRHR (T281I)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 2079685	NM_000406.3(GNRHR):c.840G>C (p.Trp280Cys)	GNRHR (W280C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301193	NM_000406.3(GNRHR):c.836G>A (p.Cys279Tyr)	GNRHR (C279Y)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1367186	NM_000406.3(GNRHR):c.820A>G (p.Thr274Ala)	GNRHR (T274A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3281823	NM_000406.3(GNRHR):c.808G>A (p.Val270Ile)	GNRHR (V270I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 140611	NM_000406.3(GNRHR):c.806C>T (p.Thr269Met)	GNRHR (T269M)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 1519153	NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)	GNRHR (L266R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 16024	NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	GNRHR (R262Q)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia +2 more	GPathogenic/Likely pathogenic
Select item 2151986	NM_000406.3(GNRHR):c.784C>T (p.Arg262Trp)	GNRHR (R262W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 717649	NM_000406.3(GNRHR):c.783A>G (p.Ala261=)	GNRHR (T219A)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3351455	NM_000406.3(GNRHR):c.777A>T (p.Pro259=)	GNRHR (K217*)	Single nucleotide variant (synonymous variant +1 more)	GNRHR-related disorder	GLikely pathogenic
Select item 349452	NM_000406.3(GNRHR):c.773T>C (p.Ile258Thr)	GNRHR (I258T)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 3100701	NM_000406.3(GNRHR):c.746T>C (p.Leu249Pro)	GNRHR (L249P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 349453	NM_000406.3(GNRHR):c.743-9A>G	GNRHR	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 154298	GRCh38/hg38 4q13.2-13.3(chr4:67744481-70267689)x1	CSN1S1, CSN2 +43 more	Copy number loss	See cases	GUncertain significance
Select item 1259894	NM_000406.3(GNRHR):c.742+35C>T	GNRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1641518	NM_000406.3(GNRHR):c.742+17G>A	GNRHR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729275	NM_000406.3(GNRHR):c.719G>A (p.Arg240Gln)	GNRHR (R240Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3233634	NM_000406.3(GNRHR):c.718C>T (p.Arg240Trp)	GNRHR (R240W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1310275	NM_000406.3(GNRHR):c.677T>C (p.Ile226Thr)	GNRHR (I226T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 904091	NM_000406.3(GNRHR):c.666C>T (p.Ile222=)	GNRHR (P180S)	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 2490947	NM_000406.3(GNRHR):c.652T>C (p.Cys218Arg)	GNRHR (C218R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 16027	NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg)	GNRHR (S217R +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia	GPathogenic
Select item 349454	NM_000406.3(GNRHR):c.648C>T (p.Phe216=)	GNRHR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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