ZNF839[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 57839	GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1	LOC105378183, LOC112163684 +164 more	Copy number loss	See cases	GPathogenic
Select item 153602	GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	ADSS1, AHNAK2 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 3198745	NM_018335.6(ZNF839):c.5C>G (p.Ala2Gly)	ZNF839 (A2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2644578	NM_018335.6(ZNF839):c.6G>T (p.Ala2=)	ZNF839	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3198742	NM_018335.6(ZNF839):c.31G>C (p.Gly11Arg)	ZNF839 (G11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480321	NM_018335.6(ZNF839):c.44G>A (p.Gly15Asp)	LOC130056512, ZNF839 (G15D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259749	NM_018335.6(ZNF839):c.49G>A (p.Gly17Ser)	LOC130056512, ZNF839 (G17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231097	NM_018335.6(ZNF839):c.55G>T (p.Gly19Cys)	LOC130056512, ZNF839 (G19C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198746	NM_018335.6(ZNF839):c.62C>G (p.Pro21Arg)	LOC130056512, ZNF839 (P21R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232776	NM_018335.6(ZNF839):c.83G>T (p.Gly28Val)	LOC130056512, ZNF839 (G28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273793	NM_018335.6(ZNF839):c.87C>A (p.Ser29Arg)	LOC130056512, ZNF839 (S29R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259747	NM_018335.6(ZNF839):c.95G>T (p.Arg32Leu)	LOC130056512, ZNF839 (R32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491535	NM_018335.6(ZNF839):c.118C>A (p.Gln40Lys)	LOC130056512, ZNF839 (Q40K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198734	NM_018335.6(ZNF839):c.136G>C (p.Glu46Gln)	LOC130056512, ZNF839 (E46Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394060	NM_018335.6(ZNF839):c.172C>T (p.Pro58Ser)	ZNF839 (P58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259742	NM_018335.6(ZNF839):c.176C>G (p.Pro59Arg)	ZNF839 (P59R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411497	NM_018335.6(ZNF839):c.176C>A (p.Pro59His)	ZNF839 (P59H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390890	NM_018335.6(ZNF839):c.185T>A (p.Leu62Gln)	ZNF839 (L62Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392640	NM_018335.6(ZNF839):c.191A>G (p.Asp64Gly)	ZNF839 (D64G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396564	NM_018335.6(ZNF839):c.206T>G (p.Leu69Arg)	LOC130056513, ZNF839 (L69R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225047	NM_018335.6(ZNF839):c.212A>G (p.Asp71Gly)	LOC130056513, ZNF839 (D71G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255003	NM_018335.6(ZNF839):c.221A>C (p.Gln74Pro)	LOC130056513, ZNF839 (Q74P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198741	NM_018335.6(ZNF839):c.284C>T (p.Pro95Leu)	LOC130056513, ZNF839 (P95L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198744	NM_018335.6(ZNF839):c.508T>C (p.Cys170Arg)	ZNF839 (C54R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259753	NM_018335.6(ZNF839):c.562G>A (p.Val188Ile)	ZNF839 (V72I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198747	NM_018335.6(ZNF839):c.653C>T (p.Thr218Ile)	ZNF839 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259754	NM_018335.6(ZNF839):c.705A>C (p.Arg235Ser)	ZNF839 (R235S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317575	NM_018335.6(ZNF839):c.754C>T (p.Arg252Trp)	ZNF839 (R136W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344817	NM_018335.6(ZNF839):c.820G>A (p.Asp274Asn)	ZNF839 (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644579	NM_018335.6(ZNF839):c.829C>T (p.Leu277=)	ZNF839	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539618	NM_018335.6(ZNF839):c.880C>G (p.Gln294Glu)	ZNF839 (Q178E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286130	NM_018335.6(ZNF839):c.911C>T (p.Ser304Leu)	ZNF839 (S188L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549561	NM_018335.6(ZNF839):c.935G>C (p.Ser312Thr)	ZNF839 (S196T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2209405	NM_018335.6(ZNF839):c.950C>G (p.Thr317Ser)	ZNF839 (T317S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210882	NM_018335.6(ZNF839):c.985G>A (p.Ala329Thr)	ZNF839 (A213T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644580	NM_018335.6(ZNF839):c.1014C>T (p.His338=)	ZNF839	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2567829	NM_018335.6(ZNF839):c.1030G>A (p.Glu344Lys)	ZNF839 (E344K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198731	NM_018335.6(ZNF839):c.1037T>A (p.Val346Glu)	ZNF839 (V346E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487440	NM_018335.6(ZNF839):c.1064C>A (p.Thr355Asn)	ZNF839 (T355N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259751	NM_018335.6(ZNF839):c.1070G>A (p.Arg357Gln)	ZNF839 (R241Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259744	NM_018335.6(ZNF839):c.1091C>T (p.Thr364Met)	ZNF839 (T248M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519152	NM_018335.6(ZNF839):c.1127C>T (p.Ala376Val)	ZNF839 (A260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198732	NM_018335.6(ZNF839):c.1145G>C (p.Gly382Ala)	ZNF839 (G266A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205020	NM_018335.6(ZNF839):c.1178G>A (p.Arg393His)	ZNF839 (R393H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210335	NM_018335.6(ZNF839):c.1184G>A (p.Gly395Asp)	ZNF839 (G279D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259755	NM_018335.6(ZNF839):c.1202C>G (p.Ser401Cys)	ZNF839 (S285C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293293	NM_018335.6(ZNF839):c.1219A>G (p.Thr407Ala)	ZNF839 (T407A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2471175	NM_018335.6(ZNF839):c.1297G>C (p.Glu433Gln)	ZNF839 (E433Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198733	NM_018335.6(ZNF839):c.1316G>A (p.Arg439His)	ZNF839 (R439H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402298	NM_018335.6(ZNF839):c.1370C>T (p.Ala457Val)	ZNF839 (A341V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217828	NM_018335.6(ZNF839):c.1376G>C (p.Gly459Ala)	ZNF839 (G459A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532818	NM_018335.6(ZNF839):c.1386G>T (p.Arg462Ser)	ZNF839 (R462S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2333142	NM_018335.6(ZNF839):c.1391C>T (p.Ser464Leu)	ZNF839 (S348L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259757	NM_018335.6(ZNF839):c.1427A>G (p.Gln476Arg)	ZNF839 (Q285R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346290	NM_018335.6(ZNF839):c.1435C>T (p.Arg479Trp)	ZNF839 (R288W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351673	NM_018335.6(ZNF839):c.1436G>T (p.Arg479Leu)	ZNF839 (R288L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221266	NM_018335.6(ZNF839):c.1444C>A (p.Leu482Met)	ZNF839 (L291M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198735	NM_018335.6(ZNF839):c.1486G>A (p.Val496Met)	ZNF839 (V305M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340756	NM_018335.6(ZNF839):c.1522C>A (p.His508Asn)	ZNF839 (H317N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198736	NM_018335.6(ZNF839):c.1546G>T (p.Ala516Ser)	ZNF839 (A516S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2204399	NM_018335.6(ZNF839):c.1693C>T (p.Arg565Trp)	ZNF839 (R399W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454981	NM_018335.6(ZNF839):c.1721T>C (p.Leu574Pro)	ZNF839 (L383P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338882	NM_018335.6(ZNF839):c.1750G>A (p.Asp584Asn)	ZNF839 (D418N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207819	NM_018335.6(ZNF839):c.1767G>C (p.Glu589Asp)	ZNF839 (E589D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204547	NM_018335.6(ZNF839):c.1780G>A (p.Glu594Lys)	ZNF839 (E594K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495394	NM_018335.6(ZNF839):c.1856A>G (p.Asp619Gly)	ZNF839 (D428G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412237	NM_018335.6(ZNF839):c.1892G>A (p.Arg631Gln)	ZNF839 (R465Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 730604	NM_018335.6(ZNF839):c.1904G>A (p.Arg635Lys)	ZNF839 (R635K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2326959	NM_018335.6(ZNF839):c.1963C>T (p.Arg655Cys)	ZNF839 (R534C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363007	NM_018335.6(ZNF839):c.1972G>A (p.Glu658Lys)	ZNF839 (E537K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259745	NM_018335.6(ZNF839):c.1985C>T (p.Thr662Met)	ZNF839 (T541M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2283642	NM_018335.6(ZNF839):c.2008A>G (p.Ser670Gly)	ZNF839 (S554G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386109	NM_018335.6(ZNF839):c.2021C>T (p.Ala674Val)	ZNF839 (A483V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468345	NM_018335.6(ZNF839):c.2093G>A (p.Arg698Gln)	ZNF839 (R507Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3198738	NM_018335.6(ZNF839):c.2156A>G (p.Gln719Arg)	ZNF839 (Q603R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351674	NM_018335.6(ZNF839):c.2212T>G (p.Trp738Gly)	ZNF839 (W622G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2302364	NM_018335.6(ZNF839):c.2222T>C (p.Leu741Pro)	ZNF839 (L550P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337439	NM_018335.6(ZNF839):c.2236T>G (p.Phe746Val)	ZNF839 (F625V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259743	NM_018335.6(ZNF839):c.2314C>T (p.Leu772Phe)	ZNF839 (L772F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2595783	NM_018335.6(ZNF839):c.2317G>A (p.Gly773Ser)	ZNF839 (G582S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign

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