30212[HGNC] - ClinVar - NCBI

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	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 151771	GRCh38/hg38 17q23.2-23.3(chr17:61631101-63219455)x1	BRIP1, EFCAB3 +39 more	Copy number loss	See cases	GLikely pathogenic
Select item 3341385	NM_001394998.1(TANC2):c.1A>G (p.Met1Val)	TANC2 (M1V)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2576746	NM_001394998.1(TANC2):c.29T>G (p.Leu10Arg)	TANC2 (L10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2225665	NM_001394998.1(TANC2):c.53A>G (p.Lys18Arg)	TANC2 (K18R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2648033	NM_001394998.1(TANC2):c.68-24166A>C	TANC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3324359	NM_001394998.1(TANC2):c.76A>G (p.Ser26Gly)	TANC2 (S26G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581696	NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn)	TANC2 (S26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648034	NM_001394998.1(TANC2):c.85C>G (p.Pro29Ala)	TANC2 (P29A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2648035	NM_001394998.1(TANC2):c.90G>A (p.Pro30=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1385449	NM_001394998.1(TANC2):c.91del (p.Asp31fs)	TANC2 (D31fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2635571	NM_001394998.1(TANC2):c.94C>G (p.Arg32Gly)	TANC2 (R32G)	Single nucleotide variant (missense variant)	TANC2-related disorder	GUncertain significance
Select item 1316038	NM_001394998.1(TANC2):c.94C>T (p.Arg32Ter)	TANC2 (R32*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2648036	NM_001394998.1(TANC2):c.97A>C (p.Arg33=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1702750	NM_001394998.1(TANC2):c.98G>C (p.Arg33Thr)	TANC2 (R33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662600	NM_001394998.1(TANC2):c.101A>G (p.Gln34Arg)	TANC2 (Q34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648037	NM_001394998.1(TANC2):c.114C>T (p.Asp38=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2377803	NM_001394998.1(TANC2):c.118C>T (p.Arg40Cys)	TANC2 (R40C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3324349	NM_001394998.1(TANC2):c.127C>T (p.Arg43Cys)	TANC2 (R43C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2648038	NM_001394998.1(TANC2):c.128G>A (p.Arg43His)	TANC2 (R43H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2532996	NM_001394998.1(TANC2):c.143G>A (p.Gly48Asp)	TANC2 (G48D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335289	NM_001394998.1(TANC2):c.146T>C (p.Ile49Thr)	TANC2 (I49T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442523	NM_001394998.1(TANC2):c.158G>A (p.Ser53Asn)	TANC2 (S53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207753	NM_001394998.1(TANC2):c.160G>A (p.Asp54Asn)	TANC2 (D54N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures +2 more	GUncertain significance
Select item 2231447	NM_001394998.1(TANC2):c.163T>C (p.Cys55Arg)	TANC2 (C55R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710641	NM_001394998.1(TANC2):c.178G>A (p.Asp60Asn)	TANC2 (D60N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573698	NM_001394998.1(TANC2):c.180C>A (p.Asp60Glu)	TANC2 (D60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335290	NM_001394998.1(TANC2):c.184G>A (p.Ala62Thr)	TANC2 (A62T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3250630	NM_001394998.1(TANC2):c.189C>T (p.Val63=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582961	NM_001394998.1(TANC2):c.197T>C (p.Leu66Pro)	TANC2 (L66P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2619151	NM_001394998.1(TANC2):c.202G>T (p.Val68Leu)	TANC2 (V68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029048	NM_001394998.1(TANC2):c.206G>A (p.Ser69Asn)	TANC2 (S69N)	Single nucleotide variant (missense variant)	TANC2-related disorder	GLikely benign
Select item 1690562	NM_001394998.1(TANC2):c.206G>C (p.Ser69Thr)	TANC2 (S69T)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1687310	NM_001394998.1(TANC2):c.213_228dup (p.Ile77fs)	TANC2 (I77fs)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2648039	NM_001394998.1(TANC2):c.321T>C (p.Thr107=)	TANC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1696750	NM_001394998.1(TANC2):c.323-24667_323-24660del	TANC2	Deletion (intron variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3324362	NM_001394998.1(TANC2):c.524A>C (p.Lys175Thr)	TANC2 (K175T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335937	NM_001394998.1(TANC2):c.538C>G (p.Gln180Glu)	TANC2 (Q106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067724	NM_001394998.1(TANC2):c.547G>A (p.Asp183Asn)	TANC2 (D109N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570997	NM_001394998.1(TANC2):c.564A>G (p.Glu188=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1804484	NM_001394998.1(TANC2):c.569A>G (p.Gln190Arg)	TANC2 (Q116R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692534	NM_001394998.1(TANC2):c.587C>G (p.Ser196Ter)	TANC2 (S122* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GLikely pathogenic
Select item 718300	NM_001394998.1(TANC2):c.594C>T (p.Ile198=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3362461	NM_001394998.1(TANC2):c.599A>C (p.Gln200Pro)	TANC2 (Q126P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2436946	NM_001394998.1(TANC2):c.601C>T (p.Arg201Trp)	TANC2 (R127W +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1690461	NM_001394998.1(TANC2):c.604A>G (p.Ile202Val)	TANC2 (I128V +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3024923	NM_001394998.1(TANC2):c.639C>T (p.Ala213=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442398	NM_001394998.1(TANC2):c.674C>T (p.Pro225Leu)	TANC2 (P151L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782551	NM_001394998.1(TANC2):c.680T>G (p.Ile227Ser)	TANC2 (I153S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3255072	NM_001394998.1(TANC2):c.713A>G (p.Tyr238Cys)	TANC2 (Y164C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2509843	NM_001394998.1(TANC2):c.718G>T (p.Ala240Ser)	TANC2 (A166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3173745	NM_001394998.1(TANC2):c.745G>A (p.Glu249Lys)	TANC2 (E249K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 922128	NM_001394998.1(TANC2):c.769+1G>A	TANC2	Single nucleotide variant (splice donor variant)	INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES +1 more	GPathogenic/Likely pathogenic
Select item 2648040	NM_001394998.1(TANC2):c.770-3C>T	TANC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317142	NM_001394998.1(TANC2):c.772A>G (p.Thr258Ala)	TANC2 (T184A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648041	NM_001394998.1(TANC2):c.802C>T (p.Arg268Cys)	TANC2 (R194C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3236454	NM_001394998.1(TANC2):c.803G>A (p.Arg268His)	TANC2 (R194H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 782158	NM_001394998.1(TANC2):c.804C>T (p.Arg268=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2292829	NM_001394998.1(TANC2):c.824G>A (p.Ser275Asn)	TANC2 (S201N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173750	NM_001394998.1(TANC2):c.832G>A (p.Glu278Lys)	TANC2 (E278K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1318856	NM_001394998.1(TANC2):c.864G>A (p.Trp288Ter)	TANC2 (W214* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3059740	NM_001394998.1(TANC2):c.867G>A (p.Gln289=)	TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GBenign
Select item 1199222	NM_001394998.1(TANC2):c.881G>T (p.Ser294Ile)	TANC2 (S220I +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2317566	NM_001394998.1(TANC2):c.885G>T (p.Met295Ile)	TANC2 (M295I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343676	NM_001394998.1(TANC2):c.893G>C (p.Cys298Ser)	TANC2 (C298S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498718	NM_001394998.1(TANC2):c.897G>A (p.Leu299=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191266	NM_001394998.1(TANC2):c.929C>G (p.Thr310Ser)	TANC2 (T310S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436943	NM_001394998.1(TANC2):c.936T>G (p.Ser312Arg)	TANC2 (S238R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 2843130	NM_001394998.1(TANC2):c.952G>A (p.Glu318Lys)	TANC2 (E244K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629979	NM_001394998.1(TANC2):c.954G>C (p.Glu318Asp)	TANC2 (E244D +1 more)	Single nucleotide variant (missense variant)	TANC2-related disorder	GUncertain significance
Select item 2573751	NM_001394998.1(TANC2):c.976T>C (p.Ser326Pro)	TANC2 (S252P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053666	NM_001394998.1(TANC2):c.981A>G (p.Gln327=)	TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GLikely benign
Select item 2209425	NM_001394998.1(TANC2):c.994A>G (p.Ile332Val)	TANC2 (I258V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482426	NM_001394998.1(TANC2):c.1004A>G (p.Tyr335Cys)	TANC2 (Y261C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305659	NM_001394998.1(TANC2):c.1009A>C (p.Met337Leu)	TANC2 (M263L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648042	NM_001394998.1(TANC2):c.1020A>C (p.Pro340=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234567	NM_001394998.1(TANC2):c.1033+8T>G	TANC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648043	NM_001394998.1(TANC2):c.1033+9TTG[8]	TANC2	Microsatellite (intron variant)	not provided	GBenign
Select item 736087	NM_001394998.1(TANC2):c.1034-6T>C	TANC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2247724	NM_001394998.1(TANC2):c.1034-3C>T	TANC2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1997615	NM_001394998.1(TANC2):c.1039A>G (p.Ser347Gly)	TANC2 (S347G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065027	NM_001394998.1(TANC2):c.1042T>A (p.Ser348Thr)	TANC2 (S274T +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 1325789	NM_001394998.1(TANC2):c.1048_1060dup (p.Leu354fs)	TANC2 (L280fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GPathogenic
Select item 2614947	NM_001394998.1(TANC2):c.1079A>G (p.Gln360Arg)	TANC2 (Q286R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675685	NM_001394998.1(TANC2):c.1086T>C (p.His362=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3252966	NM_001394998.1(TANC2):c.1090C>G (p.Pro364Ala)	TANC2 (P290A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436950	NM_001394998.1(TANC2):c.1111A>G (p.Met371Val)	TANC2 (M297V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GUncertain significance
Select item 3024265	NM_001394998.1(TANC2):c.1123_1124del (p.Ser375fs)	TANC2 (S301fs +1 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder with autistic features and language delay, with or without seizures	GLikely pathogenic
Select item 2421671	NM_001394998.1(TANC2):c.1125C>G (p.Ser375Arg)	TANC2 (S301R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2224610	NM_001394998.1(TANC2):c.1139G>A (p.Arg380His)	TANC2 (R380H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1320747	NM_001394998.1(TANC2):c.1171C>T (p.Pro391Ser)	TANC2 (P317S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878725	NM_001394998.1(TANC2):c.1222A>C (p.Ser408Arg)	TANC2 (S334R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648044	NM_001394998.1(TANC2):c.1229C>T (p.Thr410Ile)	TANC2 (T336I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506713	NM_001394998.1(TANC2):c.1268A>T (p.His423Leu)	TANC2 (H349L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029028	NM_001394998.1(TANC2):c.1280C>T (p.Ala427Val)	TANC2 (A353V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034648	NM_001394998.1(TANC2):c.1344C>T (p.Phe448=)	TANC2	Single nucleotide variant (synonymous variant)	TANC2-related disorder	GLikely benign
Select item 3324350	NM_001394998.1(TANC2):c.1360A>G (p.Ile454Val)	TANC2 (I380V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576031	NM_001394998.1(TANC2):c.1372G>A (p.Val458Met)	TANC2 (V384M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648045	NM_001394998.1(TANC2):c.1380C>G (p.Leu460=)	TANC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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