9311[HGNC] - 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 3054115	NM_001352914.2(PPP2R5C):c.-7_9dup (p.Thr4fs)	PPP2R5C (T4fs)	Duplication (frameshift variant +1 more)	PPP2R5C-related disorder	GLikely benign
Select item 3052401	NM_001352914.2(PPP2R5C):c.42+3_42+35del	LOC130056479, PPP2R5C	Deletion (splice donor variant)	PPP2R5C-related disorder	GLikely benign
Select item 2976540	NM_001352913.2(PPP2R5C):c.5C>T (p.Pro2Leu)	PPP2R5C (P2L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713726	NM_001352913.2(PPP2R5C):c.14A>C (p.Asn5Thr)	PPP2R5C (N5T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419554	NM_001352913.2(PPP2R5C):c.22G>C (p.Glu8Gln)	PPP2R5C (E8Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1663888	NM_001352913.2(PPP2R5C):c.28-20C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2644556	NM_001352913.2(PPP2R5C):c.63A>G (p.Ser21=)	PPP2R5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2020704	NM_001352913.2(PPP2R5C):c.259+32789A>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3021357	NM_001352913.2(PPP2R5C):c.259+32796T>C	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656183	NM_001352913.2(PPP2R5C):c.259+32796T>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570998	NM_001352913.2(PPP2R5C):c.259+32825A>G	PPP2R5C (E37G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3217802	NM_001352913.2(PPP2R5C):c.259+32857C>A	PPP2R5C (L48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498598	NM_001352913.2(PPP2R5C):c.260-24965G>A	PPP2R5C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3002285	NM_001352913.2(PPP2R5C):c.316G>A (p.Val106Ile)	PPP2R5C (V82I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1602207	NM_001352913.2(PPP2R5C):c.330T>C (p.Phe110=)	PPP2R5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 741990	NM_001352913.2(PPP2R5C):c.384A>G (p.Leu128=)	PPP2R5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644557	NM_001352913.2(PPP2R5C):c.415C>T (p.Arg139Trp)	PPP2R5C (R115W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215906	NM_001352913.2(PPP2R5C):c.436A>G (p.Ile146Val)	PPP2R5C (I122V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309522	NM_001352913.2(PPP2R5C):c.457A>G (p.Met153Val)	PPP2R5C (M129V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2048298	NM_001352913.2(PPP2R5C):c.460-8G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052196	NM_001352913.2(PPP2R5C):c.525G>A (p.Pro175=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033458	NM_001352913.2(PPP2R5C):c.528G>A (p.Glu176=)	PPP2R5C	Single nucleotide variant (synonymous variant)	PPP2R5C-related disorder	GLikely benign
Select item 666303	NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys)	PPP2R5C (E153K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 217454	NM_001352913.2(PPP2R5C):c.540_542del (p.Thr181del)	PPP2R5C (T157del +4 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3252059	NM_001352913.2(PPP2R5C):c.556T>C (p.Trp186Arg)	PPP2R5C (W131R +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1098393	NM_001352913.2(PPP2R5C):c.563A>G (p.His188Arg)	PPP2R5C (H133R +4 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 776862	NM_001352913.2(PPP2R5C):c.570+5C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2730133	NM_001352913.2(PPP2R5C):c.570+6G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2992109	NM_001352913.2(PPP2R5C):c.570+20A>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2326030	NM_001352913.2(PPP2R5C):c.629C>T (p.Ala210Val)	PPP2R5C (A80V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1653786	NM_001352913.2(PPP2R5C):c.658T>C (p.Leu220=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1930715	NM_001352913.2(PPP2R5C):c.664-20G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1076998	NM_001352913.2(PPP2R5C):c.694C>T (p.Arg232Trp)	PPP2R5C (R102W +4 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 781151	NM_001352913.2(PPP2R5C):c.747A>C (p.Leu249=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2877252	NM_001352913.2(PPP2R5C):c.750C>T (p.Gly250=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217803	NM_001352913.2(PPP2R5C):c.774G>T (p.Gln258His)	PPP2R5C (Q128H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1576764	NM_001352913.2(PPP2R5C):c.794+8A>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1640050	NM_001352913.2(PPP2R5C):c.794+10G>C	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967516	NM_001352913.2(PPP2R5C):c.855-13G>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636534	NM_001352913.2(PPP2R5C):c.855-13G>C	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 161840	NM_001352913.2(PPP2R5C):c.880C>G (p.Leu294Val)	PPP2R5C (L239V +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 1663183	NM_001352913.2(PPP2R5C):c.907T>C (p.Leu303=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2965893	NM_001352913.2(PPP2R5C):c.919C>A (p.Leu307Ile)	PPP2R5C (L177I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308568	NM_001352913.2(PPP2R5C):c.976G>A (p.Val326Ile)	PPP2R5C (V196I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249680	NM_001352913.2(PPP2R5C):c.1010C>T (p.Thr337Met)	PPP2R5C (T207M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1613063	NM_001352913.2(PPP2R5C):c.1011G>A (p.Thr337=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548867	NM_001352913.2(PPP2R5C):c.1017+19G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633585	NM_001352913.2(PPP2R5C):c.1018-19C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930848	NM_001352913.2(PPP2R5C):c.1018-9_1018-5dup	PPP2R5C	Duplication (intron variant)	not provided	GLikely benign
Select item 781152	NM_001352913.2(PPP2R5C):c.1018-4G>C	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2475160	NM_001352913.2(PPP2R5C):c.1026G>A (p.Met342Ile)	PPP2R5C (M347I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1558803	NM_001352913.2(PPP2R5C):c.1062A>G (p.Pro354=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2479106	NM_001352913.2(PPP2R5C):c.1131G>C (p.Lys377Asn)	PPP2R5C (K377N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309524	NM_001352913.2(PPP2R5C):c.1136T>C (p.Met379Thr)	PPP2R5C (M379T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1988665	NM_001352913.2(PPP2R5C):c.1189-11G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782959	NM_001352913.2(PPP2R5C):c.1189-9G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 807171	NM_001352913.2(PPP2R5C):c.1195G>A (p.Glu399Lys)	PPP2R5C (E375K +4 more)	Single nucleotide variant (missense variant)	Macrocephaly-developmental delay syndrome +1 more	GUncertain significance
Select item 1910352	NM_001352913.2(PPP2R5C):c.1316+8A>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022486	NM_001352913.2(PPP2R5C):c.1317-19C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600590	NM_001352913.2(PPP2R5C):c.1317-18G>A	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2390475	NM_001352913.2(PPP2R5C):c.1484A>G (p.Asn495Ser)	PPP2R5C (N500S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1645594	NM_001352913.2(PPP2R5C):c.1491+11A>C	PPP2R5C (K446T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2993138	NM_001352913.2(PPP2R5C):c.1492-17C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3309523	NM_001352913.2(PPP2R5C):c.1506T>G (p.Ser502Arg)	PPP2R5C (S372R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259342	NM_001352913.2(PPP2R5C):c.1544C>G (p.Thr515Arg)	PPP2R5C (T491R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2199835	NM_001352913.2(PPP2R5C):c.1582A>C (p.Lys528Gln)	PPP2R5C (K504Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047068	NM_001352913.2(PPP2R5C):c.1596C>T (p.Asp532=)	PPP2R5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092569	NM_001352913.2(PPP2R5C):c.1608+10C>T	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599283	NM_001352913.2(PPP2R5C):c.1609-19A>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1547933	NM_001352913.2(PPP2R5C):c.1609-10C>G	PPP2R5C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 584036	NC_000014.9:g.(?_101925141)_(101964947_?)del	DYNC1H1, LOC130056499 +2 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2794961	NM_001352913.2(PPP2R5C):c.1629G>T (p.Lys543Asn)	PPP2R5C (K413N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611871	NM_001352913.2(PPP2R5C):c.1644A>T (p.Ala548=)	PPP2R5C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644558	NM_001352913.2(PPP2R5C):c.1649G>T (p.Arg550Leu)	PPP2R5C (R381L +7 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1233693	NM_001352913.2(PPP2R5C):c.1708G>C (p.Ala570Pro)	PPP2R5C (A401P +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3244016	NC_000014.8:g.(?_102348478)_(102516900_?)del	DYNC1H1, PPP2R5C	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +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
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic

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