ClinVar for Gene (Select 80185) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184494	NM_001102401.4(TTI2):c.908C>G (p.Pro303Arg)	TTI2 (P303R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184493	NM_001102401.4(TTI2):c.687C>G (p.Phe229Leu)	TTI2 (F229L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184492	NM_001102401.4(TTI2):c.668C>T (p.Pro223Leu)	TTI2 (P223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184490	NM_001102401.4(TTI2):c.448G>A (p.Val150Ile)	TTI2 (V150I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3184489	NM_001102401.4(TTI2):c.1475A>G (p.Tyr492Cys)	MAK16, TTI2 (Y461C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3184488	NM_001102401.4(TTI2):c.1439T>G (p.Ile480Ser)	MAK16, TTI2 (I449S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184487	NM_001102401.4(TTI2):c.1426C>G (p.Leu476Val)	MAK16, TTI2 (L476V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184486	NM_001102401.4(TTI2):c.1030C>T (p.Arg344Trp)	TTI2 (R344W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068682	NM_001102401.4(TTI2):c.-100+1G>A	TTI2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GBenign
Select item 3068291	NM_001102401.4(TTI2):c.356T>C (p.Leu119Pro)	TTI2 (L119P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 3065604	NM_001102401.4(TTI2):c.1115+2T>C	TTI2	Single nucleotide variant (splice donor variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GLikely pathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3052742	NM_001102401.4(TTI2):c.585A>G (p.Glu195=)	TTI2	Single nucleotide variant (synonymous variant)	TTI2-related disorder	GLikely benign
Select item 3046396	NM_001102401.4(TTI2):c.687C>T (p.Phe229=)	TTI2	Single nucleotide variant (synonymous variant)	TTI2-related disorder	GLikely benign
Select item 3042945	NM_001102401.4(TTI2):c.796C>T (p.Leu266=)	TTI2	Single nucleotide variant (synonymous variant)	TTI2-related disorder	GLikely benign
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2663493	NM_001102401.4(TTI2):c.1399C>T (p.Arg467Cys)	MAK16, TTI2 (R436C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662639	NM_001102401.4(TTI2):c.326C>T (p.Ala109Val)	TTI2 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658534	NM_001102401.4(TTI2):c.290A>C (p.Lys97Thr)	TTI2 (K97T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2658533	NM_001102401.4(TTI2):c.750C>T (p.Pro250=)	TTI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2658532	NM_001102401.4(TTI2):c.1038C>T (p.Ile346=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658531	NM_001102401.4(TTI2):c.1117T>C (p.Leu373=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619218	NM_001102401.4(TTI2):c.215G>T (p.Gly72Val)	TTI2 (G72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607669	NM_001102401.4(TTI2):c.1423G>A (p.Gly475Ser)	MAK16, TTI2 (G444S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589419	NM_001102401.4(TTI2):c.955T>C (p.Phe319Leu)	TTI2 (F319L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552470	NM_001102401.4(TTI2):c.914A>G (p.His305Arg)	TTI2 (H305R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506447	NM_001102401.4(TTI2):c.575T>C (p.Leu192Pro)	TTI2 (L192P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2506446	NM_001102401.4(TTI2):c.539T>C (p.Leu180Pro)	TTI2 (L180P)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2506444	NM_001102401.4(TTI2):c.1075C>T (p.Arg359Cys)	TTI2 (R359C +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic
Select item 2488331	NM_001102401.4(TTI2):c.758T>C (p.Leu253Ser)	TTI2 (L253S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470991	NM_001102401.4(TTI2):c.1297T>G (p.Leu433Val)	MAK16, TTI2 (L402V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463492	NM_001102401.4(TTI2):c.709A>G (p.Thr237Ala)	TTI2 (T237A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2437396	NM_001102401.4(TTI2):c.160G>T (p.Asp54Tyr)	TTI2 (D54Y)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 2408213	NM_001102401.4(TTI2):c.1357G>A (p.Ala453Thr)	MAK16, TTI2 (A422T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400269	NM_001102401.4(TTI2):c.713G>A (p.Arg238Gln)	TTI2 (R238Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399026	NM_001102401.4(TTI2):c.985A>G (p.Lys329Glu)	TTI2 (K329E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392493	NM_001102401.4(TTI2):c.1087G>A (p.Ala363Thr)	TTI2 (A363T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359748	NM_001102401.4(TTI2):c.1166T>C (p.Ile389Thr)	TTI2 (I358T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357738	NM_001102401.4(TTI2):c.1190G>A (p.Gly397Glu)	TTI2 (G366E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282008	NM_001102401.4(TTI2):c.569G>T (p.Gly190Val)	TTI2 (G190V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253698	NM_001102401.4(TTI2):c.446C>T (p.Pro149Leu)	TTI2 (P149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244798	NM_001102401.4(TTI2):c.764T>C (p.Ile255Thr)	TTI2 (I255T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230006	NM_001102401.4(TTI2):c.1076G>A (p.Arg359His)	TTI2 (R328H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229458	NM_001102401.4(TTI2):c.119C>T (p.Pro40Leu)	TTI2 (P40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227938	NM_001102401.4(TTI2):c.647+1G>A	TTI2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 1807790	GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1	ADGRA2, ADRB3 +59 more	Copy number loss	not provided	GPathogenic
Select item 1722857	NM_001102401.4(TTI2):c.1259+2dup	TTI2	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1711134	Single allele	ADAM32, ADAM7 +250 more	Complex	See cases	GPathogenic
Select item 1703665	Single allele	ASAH1-AS1, ASH2L +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1699094	NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter)	TTI2 (Y331* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1691272	NM_001102401.4(TTI2):c.950A>T (p.Asp317Val)	TTI2 (D286V +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GPathogenic/Likely pathogenic
Select item 1685191	NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala)	MAK16, TTI2 (D435A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342859	NM_001102401.4(TTI2):c.-99-31C>T	TTI2	Single nucleotide variant (5 prime UTR variant +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GBenign
Select item 1342858	NM_001102401.4(TTI2):c.138T>C (p.Asn46=)	TTI2	Single nucleotide variant (synonymous variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GBenign
Select item 1342857	NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly)	TTI2 (E63G)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GBenign
Select item 1338395	NM_001102401.4(TTI2):c.489del (p.Pro162_Trp163insTer)	TTI2	Deletion (nonsense)	not specified	GUncertain significance
Select item 1337372	NM_001102401.4(TTI2):c.1135C>T (p.Arg379Trp)	TTI2 (R348W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1337216	NM_001102401.4(TTI2):c.1107C>T (p.Phe369=)	TTI2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1336577	NM_001102401.4(TTI2):c.1250C>G (p.Thr417Ser)	TTI2 (T386S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1299112	NM_001102401.4(TTI2):c.796C>G (p.Leu266Val)	TTI2 (L266V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032622	NM_001102401.4(TTI2):c.55G>C (p.Glu19Gln)	TTI2 (E19Q)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1031831	NM_001102401.4(TTI2):c.127_131delinsAA (p.Arg43_Arg44delinsLys)	TTI2	Indel (inframe_indel)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 1029082	NM_001102401.4(TTI2):c.638A>G (p.Asp213Gly)	TTI2 (D213G)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1029081	NM_001102401.4(TTI2):c.1001G>A (p.Arg334Gln)	TTI2 (R303Q +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	GUncertain significance
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	AP3M2, FAM86B1 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 988938	GRCh37/hg19 8p12(chr8:32691933-33893567)x3	DUSP26, FUT10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 871558	NM_001102401.4(TTI2):c.1121_1122dup (p.Ile375fs)	TTI2 (I344fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 858891	NM_001102401.4(TTI2):c.21_22insAAGCGCTCTG (p.Glu8fs)	TTI2 (E8fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 813602	NM_001102401.4(TTI2):c.1064G>A (p.Arg355His)	TTI2 (R355H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 813601	NM_001102401.4(TTI2):c.1414C>T (p.Arg472Trp)	MAK16, TTI2 (R441W +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 797418	NM_001102401.4(TTI2):c.1167T>C (p.Ile389=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789295	NM_001102401.4(TTI2):c.137A>G (p.Asn46Ser)	TTI2 (N46S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768234	NM_001102401.4(TTI2):c.723G>A (p.Leu241=)	TTI2	Single nucleotide variant (synonymous variant)	TTI2-related disorder +1 more	GBenign
Select item 768233	NM_001102401.4(TTI2):c.1031G>A (p.Arg344Gln)	TTI2 (R313Q +1 more)	Single nucleotide variant (missense variant)	TTI2-related disorder +1 more	GBenign
Select item 764915	NM_001102401.4(TTI2):c.1506C>T (p.Gly502=)	MAK16, TTI2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 755601	NM_001102401.4(TTI2):c.117C>T (p.Arg39=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754933	NM_001102401.4(TTI2):c.276T>C (p.Tyr92=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 752519	NM_001102401.4(TTI2):c.1086C>T (p.Tyr362=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751486	NM_001102401.4(TTI2):c.310G>A (p.Asp104Asn)	TTI2 (D104N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 748211	NM_001102401.4(TTI2):c.105C>T (p.His35=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738475	NM_001102401.4(TTI2):c.258A>G (p.Ala86=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737813	NM_001102401.4(TTI2):c.1260-9T>C	MAK16, TTI2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 726597	NM_001102401.4(TTI2):c.414A>C (p.Ala138=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725679	NM_001102401.4(TTI2):c.1068T>C (p.Leu356=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709878	NM_001102401.4(TTI2):c.567A>G (p.Ala189=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708486	NM_001102401.4(TTI2):c.127C>A (p.Arg43=)	TTI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685669	GRCh37/hg19 8p12(chr8:29103983-35728509)x1	DCTN6, DUSP26 +20 more	Copy number loss	not provided	GUncertain significance
Select item 626288	Single allele	ADAM28, ADAM7 +124 more	Duplication	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic
Select item 593064	NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter)	MAK16, TTI2 (K420* +1 more)	Duplication (nonsense +1 more)	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome +1 more	GConflicting classifications of pathogenicity

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