ClinVar for Gene (Select 83887) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329994	NM_031949.5(TTLL2):c.1367A>C (p.Asp456Ala)	TTLL2 (D383A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329993	NM_031949.5(TTLL2):c.283A>T (p.Thr95Ser)	TTLL2 (T22S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329992	NM_031949.5(TTLL2):c.1201G>T (p.Val401Leu)	TTLL2 (V328L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184586	NM_031949.5(TTLL2):c.968C>A (p.Thr323Lys)	TTLL2 (T250K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184585	NM_031949.5(TTLL2):c.859C>G (p.Leu287Val)	TTLL2 (L214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184584	NM_031949.5(TTLL2):c.739T>G (p.Leu247Val)	TTLL2 (L174V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184582	NM_031949.5(TTLL2):c.652C>T (p.Arg218Cys)	TTLL2 (R218C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184581	NM_031949.5(TTLL2):c.603G>A (p.Met201Ile)	TTLL2 (M128I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184580	NM_031949.5(TTLL2):c.508T>C (p.Tyr170His)	TTLL2 (Y97H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184579	NM_031949.5(TTLL2):c.486C>A (p.His162Gln)	TTLL2 (H89Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184578	NM_031949.5(TTLL2):c.419C>T (p.Pro140Leu)	TTLL2 (P140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184577	NM_031949.5(TTLL2):c.386C>T (p.Ser129Phe)	TTLL2 (S129F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184575	NM_031949.5(TTLL2):c.268C>T (p.Arg90Cys)	TTLL2 (R90C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184574	NM_031949.5(TTLL2):c.1672C>A (p.Leu558Ile)	TTLL2 (L485I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184573	NM_031949.5(TTLL2):c.1295A>G (p.His432Arg)	TTLL2 (H359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184572	NM_031949.5(TTLL2):c.112C>G (p.Gln38Glu)	TTLL2 (Q38E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3184571	NM_031949.5(TTLL2):c.1088C>T (p.Ala363Val)	TTLL2 (A290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2552427	NM_031949.5(TTLL2):c.313G>A (p.Glu105Lys)	TTLL2 (E105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533840	NM_031949.5(TTLL2):c.547G>A (p.Val183Ile)	TTLL2 (V110I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527632	NM_031949.5(TTLL2):c.1686C>G (p.Phe562Leu)	TTLL2 (F489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525482	NM_031949.5(TTLL2):c.1040G>T (p.Arg347Leu)	TTLL2 (R347L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524470	NM_031949.5(TTLL2):c.221T>C (p.Met74Thr)	TTLL2 (M74T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516496	NM_031949.5(TTLL2):c.11G>A (p.Arg4Gln)	TTLL2 (R4Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2516485	NM_031949.5(TTLL2):c.1450C>T (p.Pro484Ser)	TTLL2 (P411S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514241	NM_031949.5(TTLL2):c.1270G>A (p.Gly424Arg)	TTLL2 (G351R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493682	NM_031949.5(TTLL2):c.995G>A (p.Arg332His)	TTLL2 (R259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485146	NM_031949.5(TTLL2):c.106A>G (p.Thr36Ala)	TTLL2 (T36A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471465	NM_031949.5(TTLL2):c.1616C>A (p.Pro539Gln)	TTLL2 (P539Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411939	NM_031949.5(TTLL2):c.1435C>T (p.Arg479Cys)	TTLL2 (R406C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2392310	NM_031949.5(TTLL2):c.916G>A (p.Gly306Arg)	TTLL2 (G233R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390435	NM_031949.5(TTLL2):c.1456T>C (p.Ser486Pro)	TTLL2 (S413P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383517	NM_031949.5(TTLL2):c.1399G>A (p.Glu467Lys)	TTLL2 (E394K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366864	NM_031949.5(TTLL2):c.1574C>T (p.Ala525Val)	TTLL2 (A525V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363004	NM_031949.5(TTLL2):c.821A>C (p.Gln274Pro)	TTLL2 (Q201P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355320	NM_031949.5(TTLL2):c.707T>C (p.Met236Thr)	TTLL2 (M236T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346065	NM_031949.5(TTLL2):c.578C>T (p.Ala193Val)	TTLL2 (A193V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336803	NM_031949.5(TTLL2):c.770G>C (p.Arg257Pro)	TTLL2 (R184P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288539	NM_031949.5(TTLL2):c.1175C>A (p.Ala392Asp)	TTLL2 (A319D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282605	NM_031949.5(TTLL2):c.1485G>T (p.Gln495His)	TTLL2 (Q422H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272557	NM_031949.5(TTLL2):c.352G>A (p.Ala118Thr)	TTLL2 (A118T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263716	NM_031949.5(TTLL2):c.1309A>G (p.Ile437Val)	TTLL2 (I364V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2234635	NM_031949.5(TTLL2):c.878A>G (p.Asn293Ser)	TTLL2 (N220S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220281	NM_031949.5(TTLL2):c.770G>A (p.Arg257His)	TTLL2 (R184H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1340871	GRCh37/hg19 6q27(chr6:167263995-167774832)x3	CCR6, CEP43 +5 more	Copy number gain	not provided	GUncertain significance
Select item 979749	GRCh37/hg19 6q27(chr6:167580012-170919482)x1	AFDN, C6orf120 +17 more	Copy number loss	not provided	GPathogenic
Select item 979597	GRCh37/hg19 6q27(chr6:166083476-170919482)x3	AFDN, C6orf120 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 979595	GRCh37/hg19 6q27(chr6:167560907-168051206)x3	GPR31, UNC93A +1 more	Copy number gain	not provided	GLikely benign
Select item 814905	GRCh37/hg19 6q27(chr6:167440417-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 814901	GRCh37/hg19 6q26-27(chr6:162661108-170919482)x1	CEP43, DACT2 +33 more	Copy number loss	not provided	GPathogenic
Select item 814897	GRCh37/hg19 6q26-27(chr6:162452035-170919482)x1	GPR31, KIF25 +33 more	Copy number loss	not provided	GPathogenic
Select item 780669	NM_031949.5(TTLL2):c.605T>C (p.Leu202Pro)	TTLL2 (L202P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778926	NM_031949.5(TTLL2):c.1675G>A (p.Val559Ile)	TTLL2 (V559I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685707	GRCh37/hg19 6q27(chr6:166607593-170919482)x1	AFDN, C6orf120 +25 more	Copy number loss	not provided	GPathogenic
Select item 626287	Single allele	AFDN, C6orf118 +33 more	Deletion	not provided	GLikely pathogenic
Select item 625656	GRCh37/hg19 6q27(chr6:166517762-170919470)	AFDN, C6orf120 +26 more	Copy number loss	not provided	GPathogenic
Select item 563258	GRCh37/hg19 6q27(chr6:167388817-170919482)x1	AFDN, C6orf120 +20 more	Copy number loss	not provided	GPathogenic
Select item 563255	GRCh37/hg19 6q27(chr6:165190527-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	not provided	GPathogenic
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442494	GRCh37/hg19 6q26-27(chr6:164276935-170919482)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 442252	GRCh37/hg19 6q27(chr6:166110423-170919482)x1	AFDN, C6orf120 +28 more	Copy number loss	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 253576	GRCh37/hg19 6q27(chr6:165443824-170892302)x1	AFDN, C6orf118 +30 more	Copy number loss	See cases	GPathogenic
Select item 202226	GRCh37/hg19 6q26-27(chr6:162865436-170901287)x3	DACT2, QKI +33 more	Copy number gain	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 59550	GRCh38/hg38 6q27(chr6:166907168-167368489)x3	CCR6, CEP43 +42 more	Copy number gain	See cases	GUncertain significance
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 99