ClinVar for Gene (Select 100533111) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3477912	NM_020394.5(ZNF695):c.664A>G (p.Asn222Asp)	ZNF670-ZNF695, ZNF695 (N222D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477911	NM_020394.5(ZNF695):c.1060T>C (p.Cys354Arg)	ZNF670-ZNF695, ZNF695 (C354R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477910	NM_020394.5(ZNF695):c.1391A>T (p.Tyr464Phe)	ZNF670-ZNF695, ZNF695 (Y464F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477909	NM_020394.5(ZNF695):c.1307A>C (p.Tyr436Ser)	ZNF670-ZNF695, ZNF695 (Y436S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477908	NM_020394.5(ZNF695):c.763C>G (p.Leu255Val)	ZNF670-ZNF695, ZNF695 (L255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477906	NM_020394.5(ZNF695):c.737A>G (p.Asn246Ser)	ZNF670-ZNF695, ZNF695 (N246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477905	NM_020394.5(ZNF695):c.502T>G (p.Phe168Val)	ZNF670-ZNF695, ZNF695 (F168V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477904	NM_020394.5(ZNF695):c.175A>C (p.Met59Leu)	ZNF670-ZNF695, ZNF695 (M59L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3477903	NM_020394.5(ZNF695):c.1187T>G (p.Ile396Ser)	ZNF670-ZNF695, ZNF695 (I396S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477902	NM_020394.5(ZNF695):c.1087C>A (p.Gln363Lys)	ZNF670-ZNF695, ZNF695 (Q363K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3477756	NM_033213.5(ZNF670):c.377T>C (p.Ile126Thr)	ZNF670, ZNF670-ZNF695 (I125T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3477755	NM_033213.5(ZNF670):c.926A>G (p.Tyr309Cys)	ZNF670, ZNF670-ZNF695 (Y309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3477754	NM_033213.5(ZNF670):c.413A>G (p.Glu138Gly)	ZNF670, ZNF670-ZNF695 (E138G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259226	NM_020394.5(ZNF695):c.755G>T (p.Cys252Phe)	ZNF670-ZNF695, ZNF695 (C252F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259224	NM_020394.5(ZNF695):c.1250T>C (p.Phe417Ser)	ZNF670-ZNF695, ZNF695 (F417S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259223	NM_020394.5(ZNF695):c.598A>T (p.Thr200Ser)	ZNF670-ZNF695, ZNF695 (T200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259222	NM_020394.5(ZNF695):c.604C>G (p.Gln202Glu)	ZNF670-ZNF695, ZNF695 (Q202E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259126	NM_033213.5(ZNF670):c.312A>C (p.Glu104Asp)	ZNF670, ZNF670-ZNF695 (E103D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259125	NM_033213.5(ZNF670):c.601C>T (p.His201Tyr)	ZNF670, ZNF670-ZNF695 (H201Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259124	NM_033213.5(ZNF670):c.944G>A (p.Gly315Asp)	ZNF670, ZNF670-ZNF695 (G314D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197785	NM_020394.5(ZNF695):c.869A>G (p.His290Arg)	ZNF670-ZNF695, ZNF695 (H290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197784	NM_020394.5(ZNF695):c.803A>C (p.Tyr268Ser)	ZNF670-ZNF695, ZNF695 (Y268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197783	NM_020394.5(ZNF695):c.689G>A (p.Cys230Tyr)	ZNF670-ZNF695, ZNF695 (C230Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197782	NM_020394.5(ZNF695):c.661T>A (p.Phe221Ile)	ZNF670-ZNF695, ZNF695 (F221I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197781	NM_020394.5(ZNF695):c.425A>G (p.Asn142Ser)	ZNF670-ZNF695, ZNF695 (N142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197780	NM_020394.5(ZNF695):c.407G>A (p.Gly136Glu)	ZNF670-ZNF695, ZNF695 (G136E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197779	NM_020394.5(ZNF695):c.167G>A (p.Ser56Asn)	ZNF670-ZNF695, ZNF695 (S56N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3197778	NM_020394.5(ZNF695):c.1489T>C (p.Cys497Arg)	ZNF670-ZNF695, ZNF695 (C497R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197777	NM_020394.5(ZNF695):c.146A>G (p.Asn49Ser)	ZNF670-ZNF695, ZNF695 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197776	NM_020394.5(ZNF695):c.1463G>A (p.Arg488Lys)	ZNF670-ZNF695, ZNF695 (R488K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197775	NM_020394.5(ZNF695):c.1384A>G (p.Lys462Glu)	ZNF670-ZNF695, ZNF695 (K462E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197774	NM_020394.5(ZNF695):c.1213C>A (p.Gln405Lys)	ZNF670-ZNF695, ZNF695 (Q405K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197773	NM_020394.5(ZNF695):c.1201A>T (p.Ile401Phe)	ZNF670-ZNF695, ZNF695 (I401F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197772	NM_020394.5(ZNF695):c.1162G>A (p.Ala388Thr)	ZNF670-ZNF695, ZNF695 (A388T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197771	NM_020394.5(ZNF695):c.1058G>A (p.Arg353Gln)	ZNF670-ZNF695, ZNF695 (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197614	NM_033213.5(ZNF670):c.721C>T (p.Arg241Cys)	ZNF670, ZNF670-ZNF695 (R240C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197613	NM_033213.5(ZNF670):c.547G>A (p.Val183Ile)	ZNF670, ZNF670-ZNF695 (V183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197612	NM_033213.5(ZNF670):c.265A>G (p.Asn89Asp)	ZNF670, ZNF670-ZNF695 (N89D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618705	NM_033213.5(ZNF670):c.352C>T (p.Leu118Phe)	ZNF670, ZNF670-ZNF695 (L117F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615946	NM_033213.5(ZNF670):c.763T>C (p.Cys255Arg)	ZNF670, ZNF670-ZNF695 (C254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601465	NM_020394.5(ZNF695):c.1488A>C (p.Glu496Asp)	ZNF670-ZNF695, ZNF695 (E496D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599952	NM_020394.5(ZNF695):c.1019C>G (p.Thr340Ser)	ZNF670-ZNF695, ZNF695 (T340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590334	NM_020394.5(ZNF695):c.988G>A (p.Gly330Ser)	ZNF670-ZNF695, ZNF695 (G330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2559568	NM_020394.5(ZNF695):c.953A>G (p.His318Arg)	ZNF670-ZNF695, ZNF695 (H318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522266	NM_020394.5(ZNF695):c.814G>C (p.Glu272Gln)	ZNF670-ZNF695, ZNF695 (E272Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507856	NM_020394.5(ZNF695):c.353G>A (p.Cys118Tyr)	ZNF670-ZNF695, ZNF695 (C118Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490038	NM_020394.5(ZNF695):c.1013A>G (p.Tyr338Cys)	ZNF670-ZNF695, ZNF695 (Y338C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486972	NM_020394.5(ZNF695):c.328A>G (p.Met110Val)	ZNF670-ZNF695, ZNF695 (M110V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2481671	NM_033213.5(ZNF670):c.791G>C (p.Arg264Pro)	ZNF670, ZNF670-ZNF695 (R264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478624	NM_020394.5(ZNF695):c.28G>A (p.Ala10Thr)	ZNF670-ZNF695, ZNF695 (A10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2472228	NM_033213.5(ZNF670):c.1142G>A (p.Arg381Gln)	ZNF670, ZNF670-ZNF695 (R381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467662	NM_020394.5(ZNF695):c.229G>A (p.Val77Met)	ZNF670-ZNF695, ZNF695 (V77M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467322	NM_033213.5(ZNF670):c.319G>A (p.Val107Met)	ZNF670, ZNF670-ZNF695 (V107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465277	NM_033213.5(ZNF670):c.341G>A (p.Cys114Tyr)	ZNF670, ZNF670-ZNF695 (C114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463740	NM_033213.5(ZNF670):c.659C>T (p.Thr220Ile)	ZNF670, ZNF670-ZNF695 (T219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461612	NM_020394.5(ZNF695):c.581G>C (p.Cys194Ser)	ZNF670-ZNF695, ZNF695 (C194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459619	NM_033213.5(ZNF670):c.337A>G (p.Ile113Val)	ZNF670, ZNF670-ZNF695 (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458844	NM_020394.5(ZNF695):c.725G>C (p.Cys242Ser)	ZNF670-ZNF695, ZNF695 (C242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398654	NM_033213.5(ZNF670):c.1016G>A (p.Cys339Tyr)	ZNF670, ZNF670-ZNF695 (C339Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391054	NM_033213.5(ZNF670):c.140C>T (p.Ser47Leu)	ZNF670, ZNF670-ZNF695 (S47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388805	NM_020394.5(ZNF695):c.877G>C (p.Glu293Gln)	ZNF670-ZNF695, ZNF695 (E293Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377699	NM_020394.5(ZNF695):c.925C>T (p.Pro309Ser)	ZNF670-ZNF695, ZNF695 (P309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376638	NM_020394.5(ZNF695):c.857A>T (p.His286Leu)	ZNF670-ZNF695, ZNF695 (H286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366653	NM_033213.5(ZNF670):c.605G>A (p.Cys202Tyr)	ZNF670, ZNF670-ZNF695 (C202Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354146	NM_020394.5(ZNF695):c.468T>G (p.Phe156Leu)	ZNF670-ZNF695, ZNF695 (F156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343570	NM_020394.5(ZNF695):c.668A>G (p.Glu223Gly)	ZNF670-ZNF695, ZNF695 (E223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342398	NM_020394.5(ZNF695):c.560A>G (p.Lys187Arg)	ZNF670-ZNF695, ZNF695 (K187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335911	NM_020394.5(ZNF695):c.59G>A (p.Cys20Tyr)	ZNF670-ZNF695, ZNF695 (C20Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334355	NM_020394.5(ZNF695):c.883C>G (p.Pro295Ala)	ZNF670-ZNF695, ZNF695 (P295A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333086	NM_033213.5(ZNF670):c.370T>G (p.Ser124Ala)	ZNF670, ZNF670-ZNF695 (S124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309118	NM_033213.5(ZNF670):c.101A>G (p.Gln34Arg)	ZNF670, ZNF670-ZNF695 (Q34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293579	NM_033213.5(ZNF670):c.380G>C (p.Gly127Ala)	ZNF670, ZNF670-ZNF695 (G126A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280308	NM_033213.5(ZNF670):c.839C>T (p.Pro280Leu)	ZNF670, ZNF670-ZNF695 (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278231	NM_020394.5(ZNF695):c.1100T>G (p.Leu367Arg)	ZNF670-ZNF695, ZNF695 (L367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273621	NM_020394.5(ZNF695):c.484G>A (p.Val162Met)	ZNF670-ZNF695, ZNF695 (V162M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245933	NM_033213.5(ZNF670):c.620A>G (p.Asn207Ser)	ZNF670, ZNF670-ZNF695 (N207S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243304	NM_033213.5(ZNF670):c.212T>C (p.Leu71Pro)	ZNF670, ZNF670-ZNF695 (L70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224524	NM_020394.5(ZNF695):c.99G>A (p.Met33Ile)	ZNF670-ZNF695, ZNF695 (M33I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2208828	NM_033213.5(ZNF670):c.982G>A (p.Glu328Lys)	ZNF670, ZNF670-ZNF695 (E327K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 549578	NC_000001.11:g.246924924_247245758dup	AHCTF1, FLJ39095 +18 more	Duplication	Primary amenorrhea	GLikely benign
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 154859	GRCh38/hg38 1q44(chr1:246961051-247245763)x3	FLJ39095, LINC02897 +14 more	Copy number gain	See cases	GLikely benign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146568	GRCh38/hg38 1q44(chr1:247037209-247101457)x1	ZNF669, ZNF670 +1 more	Copy number loss	See cases	GBenign
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic

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