64518[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Autosomal recessive Dejerine-Sottas syndrome +2 more	GPathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	CDRT15, CDRT3 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58103	GRCh38/hg38 17p12(chr17:14186983-15563870)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 160871	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 154772	GRCh38/hg38 17p12(chr17:14208455-15579558)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 149424	GRCh38/hg38 17p12(chr17:14208455-15579558)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 148562	GRCh38/hg38 17p12(chr17:14208455-15538755)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148561	GRCh38/hg38 17p12(chr17:14208455-15538755)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 147669	GRCh38/hg38 17p12(chr17:14208455-15588434)x1	CDRT15, CDRT3 +23 more	Copy number loss	See cases	GPathogenic
Select item 33735	GRCh38/hg38 17p12(chr17:14208455-15538752)x3	CDRT15, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 32888	GRCh38/hg38 17p12(chr17:14208455-15538752)x1	CDRT15, CDRT3 +21 more	Copy number loss	See cases	GPathogenic
Select item 148716	GRCh38/hg38 17p12(chr17:14671118-15952996)x1	ADORA2B, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 154394	GRCh38/hg38 17p12(chr17:15140036-15708439)x3	CDRT3, CDRT4 +15 more	Copy number gain	See cases	GUncertain significance
Select item 150382	GRCh38/hg38 17p12(chr17:15190283-15952996)x3	ADORA2B, CDRT3 +21 more	Copy number gain	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 2212515	NM_031898.3(TEKT3):c.1454G>A (p.Arg485Gln)	TEKT3 (R485Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175749	NM_031898.3(TEKT3):c.1448C>G (p.Thr483Ser)	TEKT3 (T483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325262	NM_031898.3(TEKT3):c.1405G>A (p.Asp469Asn)	TEKT3 (D469N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273692	NM_031898.3(TEKT3):c.1405G>C (p.Asp469His)	TEKT3 (D469H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479370	NM_031898.3(TEKT3):c.1367A>G (p.Glu456Gly)	TEKT3 (E456G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325265	NM_031898.3(TEKT3):c.1288A>G (p.Thr430Ala)	TEKT3 (T430A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286312	NM_031898.3(TEKT3):c.1268A>C (p.Glu423Ala)	TEKT3 (E423A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362556	NM_031898.3(TEKT3):c.1267G>A (p.Glu423Lys)	TEKT3 (E423K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175748	NM_031898.3(TEKT3):c.1249C>G (p.Gln417Glu)	TEKT3 (Q417E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514546	NM_031898.3(TEKT3):c.1220C>T (p.Pro407Leu)	TEKT3 (P407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175747	NM_031898.3(TEKT3):c.1064C>T (p.Ala355Val)	TEKT3 (A355V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515318	NM_031898.3(TEKT3):c.1052T>C (p.Ile351Thr)	TEKT3 (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386120	NM_031898.3(TEKT3):c.991G>T (p.Val331Leu)	TEKT3 (V331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312537	NM_031898.3(TEKT3):c.929G>A (p.Arg310His)	TEKT3 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222284	NM_031898.3(TEKT3):c.925C>G (p.Leu309Val)	TEKT3 (L309V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624008	NM_031898.3(TEKT3):c.913G>A (p.Asp305Asn)	TEKT3 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325264	NM_031898.3(TEKT3):c.871G>T (p.Asp291Tyr)	TEKT3 (D291Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325261	NM_031898.3(TEKT3):c.824G>A (p.Arg275His)	TEKT3 (R275H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175756	NM_031898.3(TEKT3):c.796C>T (p.Arg266Trp)	TEKT3 (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270490	NM_031898.3(TEKT3):c.790G>T (p.Ala264Ser)	TEKT3 (A264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358446	NM_031898.3(TEKT3):c.788C>T (p.Thr263Met)	TEKT3 (T263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515684	NM_031898.3(TEKT3):c.758A>G (p.Glu253Gly)	TEKT3 (E253G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443975	NM_031898.3(TEKT3):c.752A>C (p.Gln251Pro)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 2344538	NM_031898.3(TEKT3):c.662C>T (p.Thr221Met)	TEKT3 (T221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249365	NM_031898.3(TEKT3):c.631G>T (p.Val211Phe)	TEKT3 (V211F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314247	NM_031898.3(TEKT3):c.568G>A (p.Ala190Thr)	TEKT3 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443974	NM_031898.3(TEKT3):c.548G>A (p.Arg183Gln)	TEKT3	Single nucleotide variant (missense variant)	Spermatogenic failure 81	GPathogenic
Select item 3175755	NM_031898.3(TEKT3):c.547C>T (p.Arg183Trp)	TEKT3 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443973	NM_031898.3(TEKT3):c.543_547delinsTTGA (p.Glu182_Arg183delinsTer)	TEKT3	Indel (nonsense)	Spermatogenic failure 81	GPathogenic
Select item 3175754	NM_031898.3(TEKT3):c.546G>T (p.Glu182Asp)	TEKT3 (E182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325263	NM_031898.3(TEKT3):c.523A>C (p.Thr175Pro)	TEKT3 (T175P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341636	NM_031898.3(TEKT3):c.491T>A (p.Leu164Ter)	TEKT3 (L164*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3175753	NM_031898.3(TEKT3):c.488A>G (p.Glu163Gly)	TEKT3 (E163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175752	NM_031898.3(TEKT3):c.470A>C (p.Lys157Thr)	TEKT3 (K157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175751	NM_031898.3(TEKT3):c.461G>T (p.Gly154Val)	TEKT3 (G154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241897	NM_031898.3(TEKT3):c.445C>A (p.Arg149Ser)	TEKT3 (R149S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225196	NM_031898.3(TEKT3):c.376C>T (p.Arg126Cys)	TEKT3 (R126C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365480	NM_031898.3(TEKT3):c.320A>G (p.Tyr107Cys)	TEKT3 (Y107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590475	NM_031898.3(TEKT3):c.308A>G (p.Asn103Ser)	TEKT3 (N103S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266507	NM_031898.3(TEKT3):c.287C>G (p.Pro96Arg)	TEKT3 (P96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219426	NM_031898.3(TEKT3):c.200C>T (p.Pro67Leu)	TEKT3 (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485372	NM_031898.3(TEKT3):c.122A>G (p.Asn41Ser)	TEKT3 (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588257	NM_031898.3(TEKT3):c.106C>T (p.Arg36Cys)	TEKT3 (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261958	NM_031898.3(TEKT3):c.96C>A (p.Ser32Arg)	TEKT3 (S32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410817	NM_031898.3(TEKT3):c.26C>T (p.Thr9Met)	TEKT3 (T9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148867	GRCh37/hg19 17p12(chr17:14070220-15482833)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 3148860	GRCh37/hg19 17p12(chr17:14073536-15503234)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685596	GRCh37/hg19 17p12(chr17:14690080-15313716)x1	PMP22, TEKT3	Copy number loss	not provided	GPathogenic
Select item 2672715	GRCh37/hg19 17p12(chr17:14095306-15472344)x1	CDRT4, COX10 +6 more	Copy number loss	not provided	GPathogenic
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	GPathogenic
Select item 2580333	GRCh37/hg19 17p12(chr17:14095256-15477547)x1	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 2498729	GRCh37/hg19 17p12(chr17:14095306-15472344)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2498728	GRCh37/hg19 17p12(chr17:14095306-15466762)x3	CDRT4, CDRT15 +6 more	Copy number gain	not provided	GPathogenic
Select item 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808978	GRCh37/hg19 17p12(chr17:14078283-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808684	GRCh37/hg19 17p12(chr17:14087934-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808667	GRCh37/hg19 17p12(chr17:14083055-15484859)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808665	GRCh37/hg19 17p12(chr17:14087934-15484358)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808614	GRCh37/hg19 17p12(chr17:14073563-15479923)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808605	GRCh37/hg19 17p12(chr17:14087934-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808529	GRCh37/hg19 17p12(chr17:14077819-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807927	GRCh37/hg19 17p12(chr17:14087788-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807821	GRCh37/hg19 17p12(chr17:14083055-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807816	GRCh37/hg19 17p12(chr17:14082945-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807743	GRCh37/hg19 17p12(chr17:14087934-15484630)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1807700	GRCh37/hg19 17p12(chr17:14087934-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic

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