TTLL7[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC132088736, LOC132088737 +557 more	Copy number loss	See cases	GPathogenic
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 2608239	NM_024686.6(TTLL7):c.2641A>G (p.Thr881Ala)	TTLL7 (T881A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184648	NM_024686.6(TTLL7):c.2630A>G (p.Asn877Ser)	TTLL7 (N877S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387817	NM_024686.6(TTLL7):c.2402C>T (p.Pro801Leu)	TTLL7 (P774L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261099	NM_024686.6(TTLL7):c.2389T>G (p.Phe797Val)	TTLL7 (F797V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184647	NM_024686.6(TTLL7):c.2333G>A (p.Arg778His)	TTLL7 (R751H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2558405	NM_024686.6(TTLL7):c.2331T>A (p.Ser777Arg)	TTLL7 (S777R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488391	NM_024686.6(TTLL7):c.2272G>A (p.Val758Ile)	TTLL7 (V731I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401238	NM_024686.6(TTLL7):c.2251C>T (p.Arg751Cys)	TTLL7 (R724C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399632	NM_024686.6(TTLL7):c.2026C>G (p.Gln676Glu)	TTLL7 (Q676E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355115	NM_024686.6(TTLL7):c.2006G>A (p.Arg669Gln)	TTLL7 (R669Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480412	NM_024686.6(TTLL7):c.2005C>T (p.Arg669Trp)	TTLL7 (R642W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515620	NM_024686.6(TTLL7):c.1951C>G (p.Leu651Val)	TTLL7 (L651V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330027	NM_024686.6(TTLL7):c.1909C>T (p.Arg637Trp)	TTLL7 (R637W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604570	NM_024686.6(TTLL7):c.1879A>G (p.Ile627Val)	TTLL7 (I600V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184646	NM_024686.6(TTLL7):c.1878G>A (p.Met626Ile)	TTLL7 (M599I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496201	NM_024686.6(TTLL7):c.1874A>G (p.Gln625Arg)	TTLL7 (Q598R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330025	NM_024686.6(TTLL7):c.1817G>A (p.Arg606Gln)	TTLL7 (R579Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184645	NM_024686.6(TTLL7):c.1813C>T (p.Pro605Ser)	TTLL7 (P578S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342671	NM_024686.6(TTLL7):c.1784C>T (p.Pro595Leu)	TTLL7 (P595L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264022	NM_024686.6(TTLL7):c.1777C>A (p.Gln593Lys)	TTLL7 (Q566K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307264	NM_024686.6(TTLL7):c.1727A>G (p.Glu576Gly)	TTLL7 (E549G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331407	NM_024686.6(TTLL7):c.1705G>A (p.Glu569Lys)	TTLL7 (E542K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307224	NM_024686.6(TTLL7):c.1667G>T (p.Ser556Ile)	TTLL7 (S556I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492105	NM_024686.6(TTLL7):c.1648G>A (p.Asp550Asn)	TTLL7 (D550N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330028	NM_024686.6(TTLL7):c.1634A>C (p.Lys545Thr)	TTLL7 (K545T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618192	NM_024686.6(TTLL7):c.1604C>T (p.Pro535Leu)	TTLL7 (P508L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365097	NM_024686.6(TTLL7):c.1565C>T (p.Thr522Ile)	TTLL7 (T522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524421	NM_024686.6(TTLL7):c.1337A>G (p.His446Arg)	TTLL7 (H419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556557	NM_024686.6(TTLL7):c.1328G>A (p.Arg443Gln)	TTLL7 (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554184	NM_024686.6(TTLL7):c.1202A>G (p.Tyr401Cys)	TTLL7 (Y401C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184651	NM_024686.6(TTLL7):c.976G>A (p.Glu326Lys)	TTLL7 (E299K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184650	NM_024686.6(TTLL7):c.727C>G (p.Gln243Glu)	TTLL7 (Q243E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321633	NM_024686.6(TTLL7):c.700A>G (p.Ile234Val)	TTLL7 (I234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184649	NM_024686.6(TTLL7):c.362G>A (p.Arg121Gln)	TTLL7 (R94Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366169	NM_024686.6(TTLL7):c.353T>G (p.Ile118Ser)	TTLL7 (I118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507557	NM_024686.6(TTLL7):c.201T>A (p.Asp67Glu)	TTLL7 (D67E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542476	NM_024686.6(TTLL7):c.170T>C (p.Ile57Thr)	TTLL7 (I57T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330026	NM_024686.6(TTLL7):c.118A>T (p.Thr40Ser)	TTLL7 (T40S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403681	NM_024686.6(TTLL7):c.43C>T (p.Pro15Ser)	TTLL7 (P15S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394855	NM_024686.6(TTLL7):c.16C>G (p.Gln6Glu)	TTLL7 (Q6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	IFI44L, LHX8 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527148	GRCh37/hg19 1p31.1-22.3(chr1:84084511-84921911)	DNASE2B, PRKACB +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 979897	GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)x3	LMO4, CLCA4 +33 more	Copy number gain	not provided	GLikely pathogenic
Select item 688852	GRCh37/hg19 1p31.1(chr1:84453218-84586599)x1	PRKACB, TTLL7	Copy number loss	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 635770	GRCh37/hg19 1p31.1(chr1:84264954-84731653)x1	PRKACB, TTLL7	Copy number loss	Delayed speech and language development	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 56