ClinVar for Gene (Select 3275) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310241	NM_206962.4(PRMT2):c.916A>G (p.Ile306Val)	PRMT2 (I306V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3310240	NM_206962.4(PRMT2):c.239C>T (p.Pro80Leu)	PRMT2 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310239	NM_206962.4(PRMT2):c.643A>C (p.Thr215Pro)	PRMT2 (T215P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310238	NM_206962.4(PRMT2):c.790T>C (p.Phe264Leu)	PRMT2 (F264L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310237	NM_206962.4(PRMT2):c.955C>G (p.Leu319Val)	PRMT2 (L319V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3310236	NM_206962.4(PRMT2):c.215G>A (p.Arg72His)	PRMT2 (R72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3218920	NM_206962.4(PRMT2):c.823G>A (p.Ala275Thr)	PRMT2 (A275T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218919	NM_206962.4(PRMT2):c.62G>T (p.Ser21Ile)	PRMT2 (S21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218918	NM_206962.4(PRMT2):c.404C>T (p.Ser135Phe)	PRMT2 (S135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218917	NM_206962.4(PRMT2):c.167A>C (p.Lys56Thr)	PRMT2 (K56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218916	NM_206962.4(PRMT2):c.124G>A (p.Ala42Thr)	PRMT2 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218915	NM_206962.4(PRMT2):c.1195C>G (p.Pro399Ala)	PRMT2 (P251R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 2685671	GRCh37/hg19 21q22.3(chr21:47906965-48097372)x1	DIP2A, PRMT2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2652834	NM_206962.4(PRMT2):c.309C>T (p.Phe103=)	PRMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609205	NM_206962.4(PRMT2):c.101A>T (p.Glu34Val)	PRMT2 (E34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457887	NM_206962.4(PRMT2):c.1266A>C (p.Gln422His)	PRMT2 (Q422H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322101	NM_206962.4(PRMT2):c.43G>A (p.Glu15Lys)	PRMT2 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281116	NM_206962.4(PRMT2):c.731T>C (p.Met244Thr)	PRMT2 (M244T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2274624	NM_206962.4(PRMT2):c.1006C>G (p.Leu336Val)	PRMT2 (L234V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267871	NM_206962.4(PRMT2):c.613G>A (p.Val205Met)	PRMT2 (V205M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261467	NM_206962.4(PRMT2):c.367A>G (p.Thr123Ala)	PRMT2 (T123A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226041	NM_206962.4(PRMT2):c.776G>A (p.Arg259His)	PRMT2 (R259H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214614	NM_206962.4(PRMT2):c.1021G>T (p.Ala341Ser)	PRMT2 (A239S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809284	GRCh37/hg19 21q22.3(chr21:47563980-48097372)x3	C21orf58, DIP2A +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808038	GRCh37/hg19 21q22.3(chr21:47500415-48097372)x1	C21orf58, COL6A2 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1701429	GRCh37/hg19 21q22.3(chr21:47533920-48084286)x1	PRMT2, C21orf58 +9 more	Copy number loss	not provided	GPathogenic
Select item 1679640	Single allele	LOC130066885, PRMT2	Deletion	not provided	GUncertain significance
Select item 1526725	GRCh37/hg19 21q22.3(chr21:45773272-48097372)	ADARB1, C21orf58 +42 more	Copy number loss	not specified	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1340500	GRCh37/hg19 21q22.3(chr21:46922436-48097372)x3	C21orf58, COL18A1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 980241	GRCh37/hg19 21q22.3(chr21:47279953-48097372)x3	C21orf58, COL6A1 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980237	GRCh37/hg19 21q22.3(chr21:47854391-48097372)x1	PRMT2, PCNT +2 more	Copy number loss	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816185	GRCh37/hg19 21q22.3(chr21:47681922-48097372)x1	PRMT2, YBEY +5 more	Copy number loss	not provided	GUncertain significance
Select item 816184	GRCh37/hg19 21q22.3(chr21:46749869-48097372)x1	C21orf58, COL18A1 +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 816180	GRCh37/hg19 21q22.3(chr21:45866973-48097372)x1	ADARB1, C21orf58 +41 more	Copy number loss	not provided	GUncertain significance
Select item 816179	GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1	ADARB1, AIRE +50 more	Copy number loss	not provided	GLikely pathogenic
Select item 816178	GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1	ADARB1, AGPAT3 +54 more	Copy number loss	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 779049	NM_206962.4(PRMT2):c.606C>T (p.Pro202=)	PRMT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 764005	NM_206962.4(PRMT2):c.1096C>A (p.Pro366Thr)	PRMT2 (P264T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 748626	NM_206962.4(PRMT2):c.594T>C (p.Asp198=)	PRMT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743660	NM_206962.4(PRMT2):c.831-8T>C	PRMT2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 718694	NM_206962.4(PRMT2):c.1057G>A (p.Gly353Arg)	PRMT2 (G251R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710386	NM_206962.4(PRMT2):c.327+7C>T	PRMT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686912	GRCh37/hg19 21q22.3(chr21:47769158-48097372)x3	DIP2A, PCNT +2 more	Copy number gain	not provided	GUncertain significance
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 560066	Single allele	ADARB1, C21orf58 +19 more	Deletion	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394602	GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1	C21orf58, COL6A1 +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 394154	GRCh37/hg19 21q22.3(chr21:47910474-48080867)x1	PRMT2, S100B +1 more	Copy number loss	See cases	GLikely benign
Select item 253527	GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1	ADARB1, C21orf58 +19 more	Copy number loss	See cases	GPathogenic
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 253363	GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1	C21orf58, COL6A2 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 253347	GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3	C21orf58, COL18A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 153558	GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1	C21orf58, COL6A1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic

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