TTLL6[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 154833	GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1	ABI3, ATP5MC1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155384	GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3	ABI3, ATP5MC1 +92 more	Copy number gain	See cases	GUncertain significance
Select item 59588	GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1	ABI3, ATP5MC1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2267309	NM_001130918.3(TTLL6):c.2630A>G (p.Tyr877Cys)	TTLL6 (Y570C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398971	NM_001130918.3(TTLL6):c.2578A>G (p.Arg860Gly)	TTLL6 (R553G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268873	NM_001130918.3(TTLL6):c.2533C>A (p.Leu845Met)	TTLL6 (L845M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330022	NM_001130918.3(TTLL6):c.2476G>A (p.Asp826Asn)	TTLL6 (D826N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469315	NM_001130918.3(TTLL6):c.2443C>T (p.Arg815Cys)	TTLL6 (R815C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2530829	NM_001130918.3(TTLL6):c.2393G>T (p.Gly798Val)	TTLL6 (G491V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392554	NM_001130918.3(TTLL6):c.2345T>A (p.Leu782Gln)	TTLL6 (L475Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255259	NM_001130918.3(TTLL6):c.2323G>A (p.Glu775Lys)	TTLL6 (E468K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225872	NM_001130918.3(TTLL6):c.2313T>G (p.His771Gln)	TTLL6 (H464Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356650	NM_001130918.3(TTLL6):c.2252G>A (p.Ser751Asn)	TTLL6 (S444N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184640	NM_001130918.3(TTLL6):c.2164G>A (p.Val722Ile)	TTLL6 (V415I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207444	NM_001130918.3(TTLL6):c.2153C>T (p.Thr718Met)	TTLL6 (T411M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1263302	NM_001130918.3(TTLL6):c.2136G>T (p.Glu712Asp)	TTLL6 (E405D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2356059	NM_001130918.3(TTLL6):c.2125G>A (p.Ala709Thr)	TTLL6 (A402T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2222090	NM_001130918.3(TTLL6):c.2105C>T (p.Pro702Leu)	TTLL6 (P395L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184639	NM_001130918.3(TTLL6):c.2084T>C (p.Leu695Pro)	TTLL6 (L388P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347024	NM_001130918.3(TTLL6):c.2083C>G (p.Leu695Val)	TTLL6 (L695V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3184638	NM_001130918.3(TTLL6):c.2053G>T (p.Val685Leu)	TTLL6 (V378L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184637	NM_001130918.3(TTLL6):c.2023G>A (p.Val675Ile)	TTLL6 (V522I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2512820	NM_001130918.3(TTLL6):c.1928C>T (p.Pro643Leu)	TTLL6 (P643L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258527	NM_001130918.3(TTLL6):c.1927C>A (p.Pro643Thr)	TTLL6 (P643T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184636	NM_001130918.3(TTLL6):c.1868C>T (p.Thr623Met)	TTLL6 (T470M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184635	NM_001130918.3(TTLL6):c.1826G>A (p.Arg609Lys)	TTLL6 (R302K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240901	NM_001130918.3(TTLL6):c.1754C>A (p.Ser585Tyr)	TTLL6 (S278Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340939	NM_001130918.3(TTLL6):c.1751C>T (p.Ala584Val)	TTLL6 (A431V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211614	NM_001130918.3(TTLL6):c.1678G>A (p.Glu560Lys)	TTLL6 (E407K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184634	NM_001130918.3(TTLL6):c.1623G>T (p.Glu541Asp)	TTLL6 (E541D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330024	NM_001130918.3(TTLL6):c.1619G>C (p.Arg540Pro)	TTLL6 (R540P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595668	NM_001130918.3(TTLL6):c.1618C>T (p.Arg540Trp)	TTLL6 (R540W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184633	NM_001130918.3(TTLL6):c.1505C>T (p.Ser502Leu)	TTLL6 (S502L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330020	NM_001130918.3(TTLL6):c.1502A>C (p.Asn501Thr)	TTLL6 (N194T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327658	NM_001130918.3(TTLL6):c.1487T>C (p.Ile496Thr)	TTLL6 (I343T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317995	NM_001130918.3(TTLL6):c.1481G>A (p.Arg494Gln)	TTLL6 (R341Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400466	NM_001130918.3(TTLL6):c.1451C>T (p.Thr484Met)	TTLL6 (T177M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216573	NM_001130918.3(TTLL6):c.1424G>A (p.Arg475Gln)	TTLL6 (R168Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359400	NM_001130918.3(TTLL6):c.1356A>T (p.Arg452Ser)	TTLL6 (R145S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184632	NM_001130918.3(TTLL6):c.1348G>C (p.Glu450Gln)	TTLL6 (E143Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316789	NM_001130918.3(TTLL6):c.1266T>G (p.Asp422Glu)	TTLL6 (D422E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613967	NM_001130918.3(TTLL6):c.1258C>T (p.Arg420Trp)	TTLL6 (R267W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368059	NM_001130918.3(TTLL6):c.1252G>A (p.Asp418Asn)	TTLL6 (D111N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455508	NM_001130918.3(TTLL6):c.1159G>A (p.Ala387Thr)	TTLL6 (A80T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590394	NM_001130918.3(TTLL6):c.1075G>A (p.Val359Ile)	TTLL6 (V52I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3330021	NM_001130918.3(TTLL6):c.1019C>G (p.Ala340Gly)	TTLL6 (A33G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338770	NM_001130918.3(TTLL6):c.1016G>A (p.Ser339Asn)	TTLL6 (S32N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613415	NM_001130918.3(TTLL6):c.710G>A (p.Arg237Gln)	TTLL6 (R237Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374465	NM_001130918.3(TTLL6):c.709C>T (p.Arg237Trp)	TTLL6 (R84W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184644	NM_001130918.3(TTLL6):c.548G>T (p.Arg183Leu)	TTLL6 (R183L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602740	NM_001130918.3(TTLL6):c.548G>A (p.Arg183His)	TTLL6 (R183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246557	NM_001130918.3(TTLL6):c.517C>T (p.Arg173Trp)	TTLL6 (R173W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495145	NM_001130918.3(TTLL6):c.499G>A (p.Gly167Arg)	TTLL6 (G167R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556770	NM_001130918.3(TTLL6):c.488A>G (p.Asn163Ser)	TTLL6 (N10S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184643	NM_001130918.3(TTLL6):c.473G>A (p.Ser158Asn)	TTLL6 (S5N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407787	NM_001130918.3(TTLL6):c.455G>A (p.Arg152Gln)	TTLL6 (R152Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184642	NM_001130918.3(TTLL6):c.442G>A (p.Val148Met)	TTLL6 (V148M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617958	NM_001130918.3(TTLL6):c.421C>T (p.Leu141Phe)	TTLL6 (L141F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184641	NM_001130918.3(TTLL6):c.385G>A (p.Gly129Ser)	TTLL6 (G129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375096	NM_001130918.3(TTLL6):c.365G>T (p.Arg122Leu)	TTLL6 (R122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514563	NM_001130918.3(TTLL6):c.349C>T (p.Arg117Trp)	TTLL6 (R117W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330023	NM_001130918.3(TTLL6):c.241G>A (p.Ala81Thr)	TTLL6 (A81T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547205	NM_001130918.3(TTLL6):c.232G>A (p.Val78Ile)	TTLL6 (V78I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 769921	NM_001130918.3(TTLL6):c.154_170del (p.Cys52fs)	TTLL6 (C52fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 3184631	NM_001130918.3(TTLL6):c.125C>T (p.Ala42Val)	TTLL6 (A42V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244799	NM_001130918.3(TTLL6):c.118C>T (p.Pro40Ser)	TTLL6 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373128	NM_001130918.3(TTLL6):c.11T>C (p.Leu4Ser)	TTLL6 (L4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063504	GRCh37/hg19 17q21.32(chr17:46867374-46972775)x3	ATP5MC1, CALCOCO2 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2684851	GRCh37/hg19 17q21.32(chr17:46612536-46845102)x3	HOXB13, HOXB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807609	GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3	ABI3, ATP5MC1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688217	GRCh37/hg19 17q21.32(chr17:46874271-47158974)x3	ATP5MC1, CALCOCO2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 80