7776[HGNC] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 148193	GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1	ADNP, ADNP-AS1 +102 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 148190	GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1	ADNP, ADNP-AS1 +63 more	Copy number loss	See cases	GPathogenic
Select item 2213376	NM_012340.5(NFATC2):c.*96C>T	NFATC2 (T706M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1693111	NM_012340.5(NFATC2):c.*71T>G	NFATC2 (S698A +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1A	GLikely pathogenic
Select item 2321290	NM_012340.5(NFATC2):c.*57T>C	NFATC2 (I693T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2652407	NM_012340.5(NFATC2):c.*52A>G	NFATC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2975968	NM_012340.5(NFATC2):c.*45-19dup	NFATC2	Duplication (intron variant)	not provided	GBenign
Select item 2232610	NM_012340.5(NFATC2):c.2638C>G (p.Pro880Ala)	NFATC2 (P880A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272989	NM_012340.5(NFATC2):c.2636C>T (p.Pro879Leu)	NFATC2 (P879L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777583	NM_012340.5(NFATC2):c.2631C>T (p.Asn877=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781568	NM_012340.5(NFATC2):c.2543C>T (p.Pro848Leu)	NFATC2 (P828L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371478	NM_012340.5(NFATC2):c.2537C>T (p.Pro846Leu)	NFATC2 (P627L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364702	NM_012340.5(NFATC2):c.2512G>C (p.Ala838Pro)	NFATC2 (A818P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592288	NM_012340.5(NFATC2):c.2500T>C (p.Cys834Arg)	NFATC2 (C834R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305044	NM_012340.5(NFATC2):c.2438A>G (p.Tyr813Cys)	NFATC2 (Y793C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602799	NM_012340.5(NFATC2):c.2413C>A (p.Gln805Lys)	NFATC2 (Q586K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196543	NM_012340.5(NFATC2):c.2374G>A (p.Gly792Ser)	NFATC2 (G792S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338562	NM_012340.5(NFATC2):c.2284C>G (p.Leu762Val)	NFATC2 (L543V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543024	NM_012340.5(NFATC2):c.2248G>A (p.Val750Ile)	NFATC2 (V750I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790890	NM_012340.5(NFATC2):c.2247C>T (p.Ala749=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265344	NM_012340.5(NFATC2):c.2221C>G (p.Arg741Gly)	NFATC2 (R721G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356717	NM_012340.5(NFATC2):c.2218G>A (p.Ala740Thr)	NFATC2 (A740T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493272	NM_012340.5(NFATC2):c.2180C>T (p.Pro727Leu)	NFATC2 (P707L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196525	NM_012340.5(NFATC2):c.2173A>G (p.Met725Val)	NFATC2 (M506V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521900	NM_012340.5(NFATC2):c.2164G>C (p.Val722Leu)	NFATC2 (V702L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196516	NM_012340.5(NFATC2):c.2135C>T (p.Pro712Leu)	NFATC2 (P692L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331348	NM_012340.5(NFATC2):c.2093C>T (p.Thr698Ile)	NFATC2 (T479I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739069	NM_012340.5(NFATC2):c.2067T>C (p.Tyr689=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480102	NM_012340.5(NFATC2):c.2057C>T (p.Thr686Met)	NFATC2 (T686M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330921	NM_012340.5(NFATC2):c.2045A>G (p.Lys682Arg)	NFATC2 (K662R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443845	NM_012340.5(NFATC2):c.2023_2026del (p.Tyr675fs)	LOC126863050, NFATC2 (Y456fs +2 more)	Microsatellite (frameshift variant)	Joint contractures, osteochondromas, and B-cell lymphoma	GPathogenic
Select item 3196511	NM_012340.5(NFATC2):c.2000G>A (p.Arg667Gln)	LOC126863050, NFATC2 (R667Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312799	NM_012340.5(NFATC2):c.1976A>G (p.Tyr659Cys)	LOC126863050, NFATC2 (Y440C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591574	NM_012340.5(NFATC2):c.1952G>A (p.Arg651His)	LOC126863050, NFATC2 (R432H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205039	NM_012340.5(NFATC2):c.1937G>A (p.Arg646Gln)	LOC126863050, NFATC2 (R427Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196497	NM_012340.5(NFATC2):c.1733C>G (p.Pro578Arg)	NFATC2 (P558R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606668	NM_012340.5(NFATC2):c.1715G>A (p.Arg572Gln)	NFATC2 (R572Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396295	NM_012340.5(NFATC2):c.1582C>A (p.Leu528Met)	NFATC2 (L508M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384533	NM_012340.5(NFATC2):c.1505C>T (p.Pro502Leu)	NFATC2 (P283L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355418	NM_012340.5(NFATC2):c.1487C>T (p.Thr496Ile)	NFATC2 (T496I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744391	NM_012340.5(NFATC2):c.1453A>T (p.Thr485Ser)	NFATC2 (T465S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3196481	NM_012340.5(NFATC2):c.1378A>C (p.Ile460Leu)	NFATC2 (I241L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771533	NM_012340.5(NFATC2):c.1337A>G (p.His446Arg)	NFATC2 (H227R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715837	NM_012340.5(NFATC2):c.1224C>T (p.Tyr408=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2361769	NM_012340.5(NFATC2):c.1208G>A (p.Ser403Asn)	NFATC2 (S184N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509520	NM_012340.5(NFATC2):c.1183C>T (p.Pro395Ser)	NFATC2 (P176S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652408	NM_012340.5(NFATC2):c.1151C>G (p.Pro384Arg)	NFATC2 (P165R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751012	NM_012340.5(NFATC2):c.1131G>A (p.Lys377=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788034	NM_012340.5(NFATC2):c.1089G>A (p.Ser363=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3196633	NM_012340.5(NFATC2):c.977G>A (p.Ser326Asn)	NFATC2 (S107N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196631	NM_012340.5(NFATC2):c.959C>G (p.Pro320Arg)	NFATC2 (P300R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242374	NM_012340.5(NFATC2):c.818G>A (p.Arg273Gln)	NFATC2 (R54Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534331	NM_012340.5(NFATC2):c.788T>C (p.Leu263Pro)	NFATC2 (L263P +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2534329	NM_012340.5(NFATC2):c.773A>G (p.Glu258Gly)	NFATC2 (E238G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 740884	NM_012340.5(NFATC2):c.759G>A (p.Arg253=)	NFATC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591320	NM_012340.5(NFATC2):c.722C>T (p.Pro241Leu)	NFATC2 (P241L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619491	NM_012340.5(NFATC2):c.691T>C (p.Cys231Arg)	NFATC2 (C12R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196618	NM_012340.5(NFATC2):c.682G>A (p.Glu228Lys)	NFATC2 (E208K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569411	NM_012340.5(NFATC2):c.673A>G (p.Ser225Gly)	NFATC2 (S6G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479068	NM_012340.5(NFATC2):c.593C>A (p.Pro198His)	NFATC2 (P198H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284948	NM_012340.5(NFATC2):c.586G>A (p.Gly196Ser)	NFATC2 (G196S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196594	NM_012340.5(NFATC2):c.325C>A (p.Leu109Met)	NFATC2 (L109M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547957	NM_012340.5(NFATC2):c.317C>T (p.Ala106Val)	NFATC2 (A106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261992	NM_012340.5(NFATC2):c.317C>A (p.Ala106Asp)	NFATC2 (A106D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317911	NM_012340.5(NFATC2):c.277G>A (p.Gly93Arg)	NFATC2 (G93R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225975	NM_012340.5(NFATC2):c.266C>A (p.Pro89Gln)	NFATC2 (P89Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262568	NM_012340.5(NFATC2):c.265C>T (p.Pro89Ser)	NFATC2 (P69S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357617	NM_012340.5(NFATC2):c.236C>T (p.Ser79Phe)	NFATC2 (S59F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778177	NM_012340.5(NFATC2):c.151G>C (p.Val51Leu)	NFATC2 (V31L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2288373	NM_012340.5(NFATC2):c.40G>C (p.Asp14His)	LOC130066176, NFATC2 (D14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2337249	NM_012340.5(NFATC2):c.31G>A (p.Asp11Asn)	LOC130066176, NFATC2 (D11N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3062401	GRCh37/hg19 20q13.13-13.2(chr20:49718564-51223195)x3	ATP9A, NFATC2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 688422	GRCh37/hg19 20q13.2(chr20:50018612-50381792)x3	ATP9A, NFATC2	Copy number gain	not provided	GUncertain significance
Select item 560064	Single allele	ADNP, ARFGEF2 +27 more	Duplication	not provided	GUncertain significance
Select item 443773	GRCh37/hg19 20q13.13-13.2(chr20:47627844-52045480)x1	ADNP, ARFGEF2 +28 more	Copy number loss	See cases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442502	GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)x1	SPATA2, STAU1 +24 more	Copy number loss	See cases	GLikely pathogenic

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Items: 82