ZNF687[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 2407012	NM_020832.3(ZNF687):c.16A>G (p.Thr6Ala)	ZNF687 (T6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244316	NM_020832.3(ZNF687):c.17C>A (p.Thr6Asn)	ZNF687 (T6N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1942569	NM_020832.3(ZNF687):c.18C>T (p.Thr6=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907039	NM_020832.3(ZNF687):c.69G>A (p.Ala23=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528210	NM_020832.3(ZNF687):c.76G>A (p.Ala26Thr)	ZNF687 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792864	NM_020832.3(ZNF687):c.87T>C (p.Ser29=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088691	NM_020832.3(ZNF687):c.139G>A (p.Val47Ile)	ZNF687 (V47I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2534992	NM_020832.3(ZNF687):c.167C>T (p.Ala56Val)	ZNF687 (A56V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224203	NM_020832.3(ZNF687):c.208T>G (p.Ser70Ala)	ZNF687 (S70A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2268052	NM_020832.3(ZNF687):c.211G>T (p.Asp71Tyr)	ZNF687 (D71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905653	NM_020832.3(ZNF687):c.219C>T (p.Gly73=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721623	NM_020832.3(ZNF687):c.225A>G (p.Pro75=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888869	NM_020832.3(ZNF687):c.227C>T (p.Pro76Leu)	ZNF687 (P76L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2165534	NM_020832.3(ZNF687):c.228G>A (p.Pro76=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551248	NM_020832.3(ZNF687):c.247A>T (p.Ser83Cys)	ZNF687 (S83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1611976	NM_020832.3(ZNF687):c.276C>T (p.Pro92=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2828905	NM_020832.3(ZNF687):c.285T>C (p.Ser95=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991066	NM_020832.3(ZNF687):c.316G>A (p.Gly106Arg)	ZNF687 (G106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714896	NM_020832.3(ZNF687):c.321C>T (p.Ala107=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903787	NM_020832.3(ZNF687):c.334G>A (p.Val112Ile)	ZNF687 (V112I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779222	NM_020832.3(ZNF687):c.346G>A (p.Gly116Arg)	ZNF687 (G116R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2711945	NM_020832.3(ZNF687):c.364C>T (p.Arg122Ter)	ZNF687 (R122*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2712589	NM_020832.3(ZNF687):c.388C>T (p.Pro130Ser)	ZNF687 (P130S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150079	NM_020832.3(ZNF687):c.398C>T (p.Ser133Phe)	ZNF687 (S133F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719593	NM_020832.3(ZNF687):c.402C>T (p.Leu134=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2002507	NM_020832.3(ZNF687):c.434G>T (p.Ser145Ile)	ZNF687 (S145I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740673	NM_020832.3(ZNF687):c.477C>A (p.Pro159=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798935	NM_020832.3(ZNF687):c.524A>C (p.Asp175Ala)	ZNF687 (D175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075548	NM_020832.3(ZNF687):c.527C>T (p.Pro176Leu)	ZNF687 (P176L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026893	NM_020832.3(ZNF687):c.550C>T (p.Pro184Ser)	ZNF687 (P184S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174642	NM_020832.3(ZNF687):c.557G>A (p.Arg186Gln)	ZNF687 (R186Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413628	NM_020832.3(ZNF687):c.559G>A (p.Glu187Lys)	ZNF687 (E187K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3259204	NM_020832.3(ZNF687):c.562G>A (p.Gly188Arg)	ZNF687 (G188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307545	NM_020832.3(ZNF687):c.563G>A (p.Gly188Glu)	ZNF687 (G188E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2971022	NM_020832.3(ZNF687):c.605C>T (p.Ala202Val)	ZNF687 (A202V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274713	NM_020832.3(ZNF687):c.608A>G (p.Gln203Arg)	ZNF687 (Q203R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1922476	NM_020832.3(ZNF687):c.612G>A (p.Glu204=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717810	NM_020832.3(ZNF687):c.652T>C (p.Leu218=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2542830	NM_020832.3(ZNF687):c.653T>C (p.Leu218Ser)	ZNF687 (L218S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001172	NM_020832.3(ZNF687):c.657G>A (p.Gly219=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2143261	NM_020832.3(ZNF687):c.661T>C (p.Leu221=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083560	NM_020832.3(ZNF687):c.678C>T (p.Cys226=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166185	NM_020832.3(ZNF687):c.684C>T (p.Pro228=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2961955	NM_020832.3(ZNF687):c.687T>G (p.His229Gln)	ZNF687 (H229Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891801	NM_020832.3(ZNF687):c.700C>G (p.Leu234Val)	ZNF687 (L234V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803387	NM_020832.3(ZNF687):c.702A>G (p.Leu234=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769508	NM_020832.3(ZNF687):c.709C>G (p.Gln237Glu)	ZNF687 (Q237E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222988	NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile)	ZNF687 (S242I)	Single nucleotide variant (missense variant)	Paget disease of bone 6	GPathogenic
Select item 3004889	NM_020832.3(ZNF687):c.732G>T (p.Lys244Asn)	ZNF687 (K244N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756178	NM_020832.3(ZNF687):c.740A>G (p.Asp247Gly)	ZNF687 (D247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979151	NM_020832.3(ZNF687):c.752G>A (p.Ser251Asn)	ZNF687 (S251N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1897212	NM_020832.3(ZNF687):c.754G>A (p.Ala252Thr)	ZNF687 (A252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923013	NM_020832.3(ZNF687):c.768A>G (p.Pro256=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659135	NM_020832.3(ZNF687):c.776G>A (p.Gly259Glu)	ZNF687 (G259E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2047525	NM_020832.3(ZNF687):c.784TTC[1] (p.Phe263del)	ZNF687 (F263del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2969691	NM_020832.3(ZNF687):c.784T>C (p.Phe262Leu)	ZNF687 (F262L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608909	NM_020832.3(ZNF687):c.792G>C (p.Lys264Asn)	ZNF687 (K264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2994954	NM_020832.3(ZNF687):c.825C>T (p.Ser275=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191103	NM_020832.3(ZNF687):c.830A>G (p.Lys277Arg)	ZNF687 (K277R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 719244	NM_020832.3(ZNF687):c.837C>T (p.Pro279=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2038751	NM_020832.3(ZNF687):c.838G>A (p.Val280Ile)	ZNF687 (V280I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019706	NM_020832.3(ZNF687):c.861A>T (p.Glu287Asp)	ZNF687 (E287D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913293	NM_020832.3(ZNF687):c.864TGA[2] (p.Asp290del)	ZNF687 (D290del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1896990	NM_020832.3(ZNF687):c.873G>T (p.Glu291Asp)	ZNF687 (E291D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2082513	NM_020832.3(ZNF687):c.899G>T (p.Gly300Val)	ZNF687 (G300V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2903365	NM_020832.3(ZNF687):c.919A>G (p.Ser307Gly)	ZNF687 (S307G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192209	NM_020832.3(ZNF687):c.925G>A (p.Ala309Thr)	ZNF687 (A309T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2181731	NM_020832.3(ZNF687):c.927C>T (p.Ala309=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960151	NM_020832.3(ZNF687):c.950A>G (p.Asn317Ser)	ZNF687 (N317S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909890	NM_020832.3(ZNF687):c.953_967del (p.Asp318_Ser323delinsGly)	ZNF687	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2090052	NM_020832.3(ZNF687):c.959C>G (p.Pro320Arg)	ZNF687 (P320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992036	NM_020832.3(ZNF687):c.966C>T (p.Ser322=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955850	NM_020832.3(ZNF687):c.975T>C (p.Ser325=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1940115	NM_020832.3(ZNF687):c.978G>A (p.Arg326=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1931899	NM_020832.3(ZNF687):c.979C>T (p.Pro327Ser)	ZNF687 (P327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336329	NM_020832.3(ZNF687):c.988G>T (p.Val330Leu)	ZNF687 (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201321	NM_020832.3(ZNF687):c.1017C>T (p.Cys339=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883494	NM_020832.3(ZNF687):c.1061A>G (p.Asp354Gly)	ZNF687 (D354G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075195	NM_020832.3(ZNF687):c.1088C>T (p.Ala363Val)	ZNF687 (A363V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757213	NM_020832.3(ZNF687):c.1090_1091delinsGC (p.Phe364Ala)	ZNF687 (F364A)	Indel (missense variant)	not provided	GUncertain significance
Select item 3197736	NM_020832.3(ZNF687):c.1094T>C (p.Leu365Ser)	ZNF687 (L365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2718995	NM_020832.3(ZNF687):c.1099G>A (p.Glu367Lys)	ZNF687 (E367K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989012	NM_020832.3(ZNF687):c.1129A>G (p.Thr377Ala)	ZNF687 (T377A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2140136	NM_020832.3(ZNF687):c.1132C>T (p.Pro378Ser)	ZNF687 (P378S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2186520	NM_020832.3(ZNF687):c.1161C>T (p.Ser387=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854077	NM_020832.3(ZNF687):c.1162G>C (p.Val388Leu)	ZNF687 (V388L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408538	NM_020832.3(ZNF687):c.1162G>A (p.Val388Ile)	ZNF687 (V388I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1924430	NM_020832.3(ZNF687):c.1162G>T (p.Val388Leu)	ZNF687 (V388L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2958464	NM_020832.3(ZNF687):c.1166A>G (p.Gln389Arg)	ZNF687 (Q389R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237747	NM_020832.3(ZNF687):c.1214C>T (p.Thr405Ile)	ZNF687 (T405I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197737	NM_020832.3(ZNF687):c.1237A>C (p.Met413Leu)	ZNF687 (M413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023163	NM_020832.3(ZNF687):c.1267G>T (p.Ala423Ser)	ZNF687 (A423S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3197738	NM_020832.3(ZNF687):c.1270G>A (p.Val424Met)	ZNF687 (V424M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342014	NM_020832.3(ZNF687):c.1273G>A (p.Val425Met)	ZNF687 (V425M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2185379	NM_020832.3(ZNF687):c.1287G>C (p.Gly429=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769531	NM_020832.3(ZNF687):c.1320C>T (p.Asn440=)	ZNF687	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2968410	NM_020832.3(ZNF687):c.1321G>A (p.Val441Met)	ZNF687 (V441M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979113	NM_020832.3(ZNF687):c.1324C>A (p.Leu442Ile)	ZNF687 (L442I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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