23241[geneid] - 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 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 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 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 155087	GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	ADSS1, AHNAK2 +367 more	Copy number loss	See cases	GPathogenic
Select item 154526	GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	ADSS1, AHNAK2 +304 more	Copy number gain	See cases	GPathogenic
Select item 57841	GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154736	GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	ADSS1, AHNAK2 +256 more	Copy number loss	See cases	GPathogenic
Select item 154247	GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	ADSS1, AHNAK2 +241 more	Copy number loss	See cases	GPathogenic
Select item 146500	GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	ADSS1, AHNAK2 +216 more	Copy number loss	See cases	GUncertain significance
Select item 150815	GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	AHNAK2, BRF1 +85 more	Copy number gain	See cases	GUncertain significance
Select item 146061	GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	AHNAK2, BRF1 +185 more	Copy number loss	See cases	GUncertain significance
Select item 146639	GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	IGHV1-46, IGHV1-58 +174 more	Copy number loss	See cases	GPathogenic
Select item 149902	GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	BRF1, BTBD6 +156 more	Copy number loss	See cases	GUncertain significance
Select item 153898	GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	LOC130056686, LOC130056687 +156 more	Copy number loss	See cases	GUncertain significance
Select item 57494	GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	BRF1, BTBD6 +154 more	Copy number loss	See cases	GUncertain significance
Select item 153795	GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	BRF1, BTBD6 +152 more	Copy number gain	See cases	GUncertain significance
Select item 1289061	NM_001243127.3(PACS2):c.-83+13198G>A	BRF1, LOC130056675 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246245	NM_001243127.3(PACS2):c.-83+13228C>A	BRF1, PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241100	NM_001243127.3(PACS2):c.-83+13248G>A	BRF1, PACS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251079	NM_001243127.3(PACS2):c.-83+13338A>G	LOC130056676, PACS2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272011	NM_015197.3(PACS2):c.-375T>C	BRF1, LOC130056676 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1441469	NM_001100913.3(PACS2):c.7G>C (p.Glu3Gln)	BRF1, PACS2 (E3Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2040827	NM_001100913.3(PACS2):c.12A>G (p.Arg4=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1718776	NM_001100913.3(PACS2):c.17G>C (p.Arg6Pro)	BRF1, PACS2 (R6P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522559	NM_001100913.3(PACS2):c.17G>T (p.Arg6Leu)	BRF1, PACS2 (R6L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1998591	NM_001100913.3(PACS2):c.25_33dup (p.Gly11_Ala12insLeuProGly)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1717818	NM_001100913.3(PACS2):c.20T>G (p.Leu7Arg)	BRF1, PACS2 (L7R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1631591	NM_001100913.3(PACS2):c.21C>A (p.Leu7=)	PACS2, BRF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1542589	NM_001100913.3(PACS2):c.21C>T (p.Leu7=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388202	NM_001100913.3(PACS2):c.25_33del (p.Leu9_Gly11del)	BRF1, PACS2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1373831	NM_001100913.3(PACS2):c.25C>T (p.Leu9Phe)	BRF1, PACS2 (L9F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674617	NM_001100913.3(PACS2):c.29CCGGCGCGC[3] (p.Ala15_Leu16insProGlyAla)	BRF1, PACS2	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 2770810	NM_001100913.3(PACS2):c.29CCGGCGCGC[1] (p.10PGA[1])	BRF1, PACS2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2534378	NM_001100913.3(PACS2):c.28C>G (p.Pro10Ala)	BRF1, PACS2 (P10A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3005989	NM_001100913.3(PACS2):c.29C>T (p.Pro10Leu)	BRF1, PACS2 (P10L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1976053	NM_001100913.3(PACS2):c.31G>A (p.Gly11Ser)	BRF1, PACS2 (G11S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2009557	NM_001100913.3(PACS2):c.33C>A (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1600317	NM_001100913.3(PACS2):c.33C>T (p.Gly11=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1949382	NM_001100913.3(PACS2):c.41_58dup (p.Pro19_Val20insGlyAlaLeuAsnThrPro)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2837499	NM_001100913.3(PACS2):c.36G>A (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040828	NM_001100913.3(PACS2):c.36G>T (p.Ala12=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570893	NM_001100913.3(PACS2):c.37C>G (p.Pro13Ala)	BRF1, PACS2 (P13A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1402365	NM_001100913.3(PACS2):c.37C>T (p.Pro13Ser)	BRF1, PACS2 (P13S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974283	NM_001100913.3(PACS2):c.40_48dup (p.Leu16_Asn17insGlyAlaLeu)	BRF1, PACS2	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2185885	NM_001100913.3(PACS2):c.38C>T (p.Pro13Leu)	BRF1, PACS2 (P13L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2534379	NM_001100913.3(PACS2):c.41G>C (p.Gly14Ala)	BRF1, PACS2 (G14A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1556914	NM_001100913.3(PACS2):c.44C>T (p.Ala15Val)	BRF1, PACS2 (A15V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2753153	NM_001100913.3(PACS2):c.45G>C (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2168805	NM_001100913.3(PACS2):c.45G>A (p.Ala15=)	BRF1, PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1355779	NM_001100913.3(PACS2):c.47T>C (p.Leu16Pro)	BRF1, PACS2 (L16P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1928806	NM_001100913.3(PACS2):c.49A>T (p.Asn17Tyr)	BRF1, PACS2 (N17Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1647179	NM_001100913.3(PACS2):c.57C>T (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638026	NM_001100913.3(PACS2):c.57C>G (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1491455	NM_001100913.3(PACS2):c.57C>A (p.Pro19=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029076	NM_001100913.3(PACS2):c.58G>A (p.Val20Met)	BRF1, LOC130056677 +1 more (V20M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 66 +1 more	GUncertain significance
Select item 2056588	NM_001100913.3(PACS2):c.60G>A (p.Val20=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940200	NM_001100913.3(PACS2):c.65T>C (p.Met22Thr)	BRF1, LOC130056677 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1535271	NM_001100913.3(PACS2):c.70C>T (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172522	NM_001100913.3(PACS2):c.72G>C (p.Leu24=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2767356	NM_001100913.3(PACS2):c.75C>T (p.Phe25=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2302770	NM_001100913.3(PACS2):c.75C>G (p.Phe25Leu)	BRF1, LOC130056677 +1 more (F25L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1673644	NM_001100913.3(PACS2):c.79A>G (p.Thr27Ala)	BRF1, LOC130056677 +1 more (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2014760	NM_001100913.3(PACS2):c.80C>T (p.Thr27Ile)	BRF1, LOC130056677 +1 more (T27I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1495442	NM_001100913.3(PACS2):c.83G>A (p.Trp28Ter)	BRF1, LOC130056677 +1 more (W28*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1326531	NM_001100913.3(PACS2):c.85G>A (p.Glu29Lys)	BRF1, LOC130056677 +1 more (E29K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2749544	NM_001100913.3(PACS2):c.94G>A (p.Gly32Ser)	BRF1, LOC130056677 +1 more (G32S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2032426	NM_001100913.3(PACS2):c.102C>T (p.Ser34=)	BRF1, LOC130056677 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365709	NM_001100913.3(PACS2):c.103C>A (p.Pro35Thr)	BRF1, LOC130056677 +1 more (P35T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2815133	NM_001100913.3(PACS2):c.104C>G (p.Pro35Arg)	BRF1, LOC130056677 +1 more (P35R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2866459	NM_001100913.3(PACS2):c.106A>T (p.Ser36Cys)	BRF1, LOC130056677 +1 more (S36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111127	NM_001100913.3(PACS2):c.112G>C (p.Val38Leu)	BRF1, LOC130056677 +1 more (V38L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2126565	NM_001100913.3(PACS2):c.119+4C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1367519	NM_001100913.3(PACS2):c.119+6C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2130182	NM_001100913.3(PACS2):c.119+7G>C	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013078	NM_001100913.3(PACS2):c.119+7G>A	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843058	NM_001100913.3(PACS2):c.119+8C>T	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2093881	NM_001100913.3(PACS2):c.119+10del	PACS2, BRF1 +1 more	Deletion (intron variant)	not provided	GLikely benign
Select item 1541643	NM_001100913.3(PACS2):c.119+17G>A	BRF1, LOC130056677 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787312	NM_001100913.3(PACS2):c.120-12C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1377770	NM_001100913.3(PACS2):c.120-7C>G	PACS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2093438	NM_001100913.3(PACS2):c.120-5C>T	PACS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813224	NM_001100913.3(PACS2):c.120G>C (p.Arg40Ser)	PACS2 (R40S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2199859	NM_001100913.3(PACS2):c.123G>A (p.Leu41=)	PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1595250	NM_001100913.3(PACS2):c.126C>T (p.Cys42=)	PACS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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