ClinVar for Gene (Select 57178) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251935	NM_020338.4(ZMIZ1):c.2615_2628del (p.Tyr872fs)	ZMIZ1 (Y872fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GPathogenic
Select item 3235797	NM_020338.4(ZMIZ1):c.1142A>C (p.His381Pro)	ZMIZ1 (H381P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3235796	NM_020338.4(ZMIZ1):c.1144G>C (p.Gly382Arg)	ZMIZ1 (G382R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234604	NM_020338.4(ZMIZ1):c.175-6T>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3193722	NM_020338.4(ZMIZ1):c.605C>G (p.Ser202Trp)	ZMIZ1 (S202W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193721	NM_020338.4(ZMIZ1):c.389G>A (p.Ser130Asn)	ZMIZ1 (S130N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3193720	NM_020338.4(ZMIZ1):c.344G>A (p.Arg115His)	ZMIZ1 (R115H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193719	NM_020338.4(ZMIZ1):c.2770C>A (p.Pro924Thr)	ZMIZ1 (P924T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193718	NM_020338.4(ZMIZ1):c.2641A>G (p.Thr881Ala)	ZMIZ1 (T881A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193717	NM_020338.4(ZMIZ1):c.2239C>T (p.Arg747Trp)	ZMIZ1 (R747W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193716	NM_020338.4(ZMIZ1):c.2194G>T (p.Glu732Ter)	ZMIZ1 (E732*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3193715	NM_020338.4(ZMIZ1):c.1853G>A (p.Arg618Gln)	ZMIZ1 (R618Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3193714	NM_020338.4(ZMIZ1):c.169T>G (p.Leu57Val)	ZMIZ1 (L57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067452	NM_020338.4(ZMIZ1):c.2472G>A (p.Pro824=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065050	NM_020338.4(ZMIZ1):c.977A>G (p.Tyr326Cys)	ZMIZ1 (Y326C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	GUncertain significance
Select item 3061713	NM_020338.4(ZMIZ1):c.2002G>A (p.Val668Ile)	ZMIZ1 (V668I)	Single nucleotide variant (missense variant)	ZMIZ1-related disorder	GUncertain significance
Select item 3029726	NM_020338.4(ZMIZ1):c.693G>A (p.Gln231=)	ZMIZ1	Single nucleotide variant (synonymous variant)	ZMIZ1-related disorder	GLikely benign
Select item 3026406	NM_020338.4(ZMIZ1):c.1493C>A (p.Pro498His)	ZMIZ1 (P498H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025912	NM_020338.4(ZMIZ1):c.2586C>T (p.Ile862=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022150	NM_020338.4(ZMIZ1):c.837C>T (p.Pro279=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017980	NM_020338.4(ZMIZ1):c.1791C>G (p.His597Gln)	ZMIZ1 (H597Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015122	NM_020338.4(ZMIZ1):c.1045G>A (p.Ala349Thr)	ZMIZ1 (A349T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014495	NM_020338.4(ZMIZ1):c.649G>T (p.Ala217Ser)	ZMIZ1 (A217S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993434	NM_020338.4(ZMIZ1):c.2286+6C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981054	NM_020338.4(ZMIZ1):c.1667-8C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977526	NM_020338.4(ZMIZ1):c.291C>T (p.Ser97=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957688	NM_020338.4(ZMIZ1):c.2701T>C (p.Phe901Leu)	ZMIZ1 (F901L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920392	NM_020338.4(ZMIZ1):c.2663G>A (p.Ser888Asn)	ZMIZ1 (S888N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2909653	NM_020338.4(ZMIZ1):c.1020C>T (p.Ala340=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908356	NM_020338.4(ZMIZ1):c.650C>T (p.Ala217Val)	ZMIZ1 (A217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907627	NM_020338.4(ZMIZ1):c.2322C>T (p.Cys774=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906192	NM_020338.4(ZMIZ1):c.2972G>A (p.Arg991Gln)	ZMIZ1 (R991Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904456	NM_020338.4(ZMIZ1):c.2853C>T (p.Ser951=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903293	NM_020338.4(ZMIZ1):c.1717G>C (p.Val573Leu)	ZMIZ1 (V573L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902547	NM_020338.4(ZMIZ1):c.1648G>A (p.Ala550Thr)	ZMIZ1 (A550T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2900953	NM_020338.4(ZMIZ1):c.2646C>G (p.Asn882Lys)	ZMIZ1 (N882K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2900747	NM_020338.4(ZMIZ1):c.1427A>G (p.Asn476Ser)	ZMIZ1 (N476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899697	NM_020338.4(ZMIZ1):c.2120C>T (p.Thr707Met)	ZMIZ1 (T707M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898422	NM_020338.4(ZMIZ1):c.1932C>G (p.Asn644Lys)	ZMIZ1 (N644K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898026	NM_020338.4(ZMIZ1):c.2748C>T (p.His916=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896929	NM_020338.4(ZMIZ1):c.2121G>A (p.Thr707=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890186	NM_020338.4(ZMIZ1):c.106C>T (p.Leu36=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888600	NM_020338.4(ZMIZ1):c.2007G>A (p.Thr669=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888232	NM_020338.4(ZMIZ1):c.1666+9C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886911	NM_020338.4(ZMIZ1):c.351C>T (p.Ser117=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885435	NM_020338.4(ZMIZ1):c.1389G>A (p.Thr463=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881740	NM_020338.4(ZMIZ1):c.2932C>T (p.His978Tyr)	ZMIZ1 (H978Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881228	NM_020338.4(ZMIZ1):c.1555C>G (p.Pro519Ala)	ZMIZ1 (P519A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2881195	NM_020338.4(ZMIZ1):c.1642A>G (p.Met548Val)	ZMIZ1 (M548V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2881062	NM_020338.4(ZMIZ1):c.1818G>A (p.Leu606=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881013	NM_020338.4(ZMIZ1):c.1300C>T (p.Pro434Ser)	ZMIZ1 (P434S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880430	NM_020338.4(ZMIZ1):c.1127G>A (p.Ser376Asn)	ZMIZ1 (S376N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878906	NM_020338.4(ZMIZ1):c.2168C>A (p.Thr723Lys)	ZMIZ1 (T723K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2878260	NM_020338.4(ZMIZ1):c.3073G>A (p.Asp1025Asn)	ZMIZ1 (D1025N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878203	NM_020338.4(ZMIZ1):c.3094G>A (p.Asp1032Asn)	ZMIZ1 (D1032N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2877483	NM_020338.4(ZMIZ1):c.588C>A (p.Gly196=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876560	NM_020338.4(ZMIZ1):c.2835+14C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874991	NM_020338.4(ZMIZ1):c.294C>T (p.Ser98=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874136	NM_020338.4(ZMIZ1):c.1034G>C (p.Ser345Thr)	ZMIZ1 (S345T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874026	NM_020338.4(ZMIZ1):c.1356C>T (p.Ser452=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873083	NM_020338.4(ZMIZ1):c.744G>A (p.Gly248=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872239	NM_020338.4(ZMIZ1):c.75T>G (p.Pro25=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871320	NM_020338.4(ZMIZ1):c.174+20G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2870030	NM_020338.4(ZMIZ1):c.758+10G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869995	NM_020338.4(ZMIZ1):c.1986C>T (p.Asn662=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869919	NM_020338.4(ZMIZ1):c.2956C>A (p.Pro986Thr)	ZMIZ1 (P986T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869826	NM_020338.4(ZMIZ1):c.2772C>G (p.Pro924=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868902	NM_020338.4(ZMIZ1):c.60+11G>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868791	NM_020338.4(ZMIZ1):c.697T>C (p.Tyr233His)	ZMIZ1 (Y233H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868692	NM_020338.4(ZMIZ1):c.1080G>A (p.Met360Ile)	ZMIZ1 (M360I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868121	NM_020338.4(ZMIZ1):c.3096+14G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868112	NM_020338.4(ZMIZ1):c.2625G>A (p.Pro875=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867805	NM_020338.4(ZMIZ1):c.2424-17C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867710	NM_020338.4(ZMIZ1):c.1809-13G>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867546	NM_020338.4(ZMIZ1):c.941T>C (p.Ile314Thr)	ZMIZ1 (I314T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866422	NM_020338.4(ZMIZ1):c.1062C>T (p.Gly354=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866212	NM_020338.4(ZMIZ1):c.2669-19C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865349	NM_020338.4(ZMIZ1):c.174+19C>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862230	NM_020338.4(ZMIZ1):c.2945C>G (p.Pro982Arg)	ZMIZ1 (P982R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860550	NM_020338.4(ZMIZ1):c.3166A>G (p.Ser1056Gly)	ZMIZ1 (S1056G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859416	NM_020338.4(ZMIZ1):c.454C>T (p.Pro152Ser)	ZMIZ1 (P152S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2858469	NM_020338.4(ZMIZ1):c.2020-3C>A	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2852706	NM_020338.4(ZMIZ1):c.473A>G (p.Asn158Ser)	ZMIZ1 (N158S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842277	NM_020338.4(ZMIZ1):c.759-14T>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837175	NM_020338.4(ZMIZ1):c.540+12T>C	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831642	NM_020338.4(ZMIZ1):c.1308C>T (p.Pro436=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829894	NM_020338.4(ZMIZ1):c.1632C>T (p.Ile544=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819478	NM_020338.4(ZMIZ1):c.2391G>A (p.Gln797=)	LOC126860975, ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818295	NM_020338.4(ZMIZ1):c.540+7G>T	ZMIZ1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814960	NM_020338.4(ZMIZ1):c.1613C>T (p.Pro538Leu)	ZMIZ1 (P538L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813822	NM_020338.4(ZMIZ1):c.1327C>T (p.Pro443Ser)	ZMIZ1 (P443S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804990	NM_020338.4(ZMIZ1):c.282C>T (p.Ala94=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803883	NM_020338.4(ZMIZ1):c.79A>G (p.Asn27Asp)	ZMIZ1 (N27D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801120	NM_020338.4(ZMIZ1):c.2948C>T (p.Pro983Leu)	ZMIZ1 (P983L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800147	NM_020338.4(ZMIZ1):c.1300C>G (p.Pro434Ala)	ZMIZ1 (P434A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2797867	NM_020338.4(ZMIZ1):c.3149C>G (p.Pro1050Arg)	ZMIZ1 (P1050R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797768	NM_020338.4(ZMIZ1):c.2424C>T (p.His808=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2796945	NM_020338.4(ZMIZ1):c.2168C>T (p.Thr723Met)	ZMIZ1 (T723M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2793987	NM_020338.4(ZMIZ1):c.1452A>G (p.Gly484=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793646	NM_020338.4(ZMIZ1):c.1248G>A (p.Gln416=)	ZMIZ1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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