TTLL9[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 2549016	NM_001008409.5(TTLL9):c.89A>T (p.His30Leu)	TTLL9 (H30L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184654	NM_001008409.5(TTLL9):c.166G>A (p.Asp56Asn)	TTLL9 (G65E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184655	NM_001008409.5(TTLL9):c.224T>G (p.Phe75Cys)	TTLL9 (F75C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553734	NM_001008409.5(TTLL9):c.266A>G (p.His89Arg)	TTLL9 (H89R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596081	NM_001008409.5(TTLL9):c.272A>G (p.Tyr91Cys)	TTLL9 (Y91C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361855	NM_001008409.5(TTLL9):c.289C>T (p.Arg97Trp)	TTLL9 (R97W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514672	NM_001008409.5(TTLL9):c.305G>T (p.Arg102Leu)	TTLL9 (R102L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293168	NM_001008409.5(TTLL9):c.326G>A (p.Arg109Gln)	LOC112694701, TTLL9 (R109Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519893	NM_001008409.5(TTLL9):c.361C>T (p.Arg121Trp)	LOC112694701, TTLL9 (R121W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184656	NM_001008409.5(TTLL9):c.371T>G (p.Leu124Arg)	LOC112694701, TTLL9 (L124R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536166	NM_001008409.5(TTLL9):c.442G>A (p.Glu148Lys)	LOC112694701, TTLL9 (E148K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472487	NM_001008409.5(TTLL9):c.509C>A (p.Ala170Asp)	TTLL9 (A170D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3184657	NM_001008409.5(TTLL9):c.520G>A (p.Gly174Arg)	TTLL9 (G174R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362888	NM_001008409.5(TTLL9):c.532T>C (p.Phe178Leu)	TTLL9 (F178L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247972	NM_001008409.5(TTLL9):c.548T>C (p.Leu183Pro)	TTLL9 (L183P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2412573	NM_001008409.5(TTLL9):c.591C>A (p.Asp197Glu)	TTLL9 (D197E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218539	NM_001008409.5(TTLL9):c.592G>A (p.Asp198Asn)	TTLL9 (D198N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184658	NM_001008409.5(TTLL9):c.658A>T (p.Ile220Leu)	TTLL9 (I220L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330031	NM_001008409.5(TTLL9):c.668G>A (p.Arg223His)	TTLL9 (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330033	NM_001008409.5(TTLL9):c.702G>A (p.Met234Ile)	TTLL9 (M121I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330032	NM_001008409.5(TTLL9):c.1005G>A (p.Pro335=)	TTLL9	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2570463	NM_001008409.5(TTLL9):c.1009C>A (p.Leu337Ile)	TTLL9 (L337I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330035	NM_001008409.5(TTLL9):c.1056A>T (p.Glu352Asp)	TTLL9 (E254D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309018	NM_001008409.5(TTLL9):c.1090A>G (p.Thr364Ala)	TTLL9 (T266A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600022	NM_001008409.5(TTLL9):c.1091C>A (p.Thr364Asn)	TTLL9 (T266N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184653	NM_001008409.5(TTLL9):c.1100T>C (p.Val367Ala)	TTLL9 (V367A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330030	NM_001008409.5(TTLL9):c.1115C>T (p.Ala372Val)	TTLL9 (A274V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330034	NM_001008409.5(TTLL9):c.1166A>G (p.Asn389Ser)	TTLL9 (N291S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466739	NM_001008409.5(TTLL9):c.1264A>G (p.Lys422Glu)	TTLL9 (K422E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808851	GRCh37/hg19 20q11.21(chr20:30299729-30687587)x3	BCL2L1, CCM2L +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340735	GRCh37/hg19 20q11.21(chr20:30239509-30494851)x3	BCL2L1, DUSP15 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 979729	GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	DEFB115, DEFB123 +15 more	Copy number gain	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 53