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	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 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	MIR494, MIR495 +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	LOC130056617, LOC130056618 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	LOC130056492, LOC130056485 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	ADSS1, AHNAK2 +441 more	Copy number loss	See cases	GPathogenic
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	LINC00605, LINC00677 +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	BRF1, ADSS1 +397 more	Copy number loss	See cases	GPathogenic
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	MIR4538, MIR4539 +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 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 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 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 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 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 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 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 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 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 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
Select item 3198739	NM_018335.6(ZNF839):c.2327G>C (p.Cys776Ser)	ZNF839 (C610S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291417	NM_018335.6(ZNF839):c.2353C>T (p.Pro785Ser)	ZNF839 (P619S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2389065	NM_018335.6(ZNF839):c.2368G>A (p.Val790Ile)	ZNF839 (V599I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198740	NM_018335.6(ZNF839):c.2422A>G (p.Ser808Gly)	ZNF839 (S687G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292325	NM_018335.6(ZNF839):c.2482C>T (p.His828Tyr)	ZNF839 (H637Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385294	NM_018335.6(ZNF839):c.2558T>C (p.Val853Ala)	ZNF839 (V662A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2644581	NM_018335.6(ZNF839):c.2586C>T (p.Ser862=)	ZNF839	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2340397	NM_018335.6(ZNF839):c.2632A>T (p.Ser878Cys)	ZNF839 (S828C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2239053	NM_018335.6(ZNF839):c.2647T>A (p.Ser883Thr)	ZNF839 (S883T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	ADSS1, AHNAK2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance

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