ClinVar for Gene (Select 54925) - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260090	NM_001284527.2(ZSCAN32):c.1778T>C (p.Ile593Thr)	ZSCAN32 (I593T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260089	NM_001284527.2(ZSCAN32):c.1115A>T (p.Glu372Val)	ZSCAN32 (E299V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260088	NM_001284527.2(ZSCAN32):c.821A>G (p.Tyr274Cys)	ZSCAN32 (Y141C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260087	NM_001284527.2(ZSCAN32):c.641G>A (p.Arg214His)	ZSCAN32 (R81H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3199451	NM_001284527.2(ZSCAN32):c.1295T>G (p.Val432Gly)	ZSCAN32 (V299G +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199449	NM_001284527.2(ZSCAN32):c.920G>A (p.Arg307His)	ZSCAN32 (R18H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199446	NM_001284527.2(ZSCAN32):c.1955G>A (p.Arg652Gln)	ZSCAN32 (R652Q +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2685541	GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1	MEFV, MTRNR2L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2646104	NM_001284527.2(ZSCAN32):c.550G>T (p.Ala184Ser)	ZSCAN32 (A184S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2589335	NM_001284527.2(ZSCAN32):c.1913G>A (p.Cys638Tyr)	ZSCAN32 (C505Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537496	NM_001284527.2(ZSCAN32):c.835A>T (p.Thr279Ser)	ZSCAN32 (T146S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537495	NM_001284527.2(ZSCAN32):c.834G>T (p.Gln278His)	ZSCAN32 (Q145H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535768	NM_001284527.2(ZSCAN32):c.1801G>A (p.Gly601Arg)	ZSCAN32 (G312R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491536	NM_001284527.2(ZSCAN32):c.1361G>A (p.Gly454Asp)	ZSCAN32 (G165D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484371	NM_001284527.2(ZSCAN32):c.1396A>G (p.Arg466Gly)	ZSCAN32 (R466G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481465	NM_001284527.2(ZSCAN32):c.1837A>G (p.Arg613Gly)	ZSCAN32 (R324G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476136	NM_001284527.2(ZSCAN32):c.1819T>C (p.Cys607Arg)	ZSCAN32 (C534R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476135	NM_001284527.2(ZSCAN32):c.1818G>T (p.Gln606His)	ZSCAN32 (Q473H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2380263	NM_001284527.2(ZSCAN32):c.901C>T (p.Arg301Trp)	ZSCAN32 (R301W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359368	NM_001284527.2(ZSCAN32):c.727A>T (p.Arg243Trp)	ZSCAN32 (R110W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359027	NM_001284527.2(ZSCAN32):c.1994A>C (p.His665Pro)	ZSCAN32 (H376P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356964	NM_001284527.2(ZSCAN32):c.1682G>A (p.Arg561His)	ZSCAN32 (R428H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343218	NM_001284527.2(ZSCAN32):c.1388G>A (p.Arg463Lys)	ZSCAN32 (R390K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343217	NM_001284527.2(ZSCAN32):c.1324T>C (p.Ser442Pro)	ZSCAN32 (S230P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342837	NM_001284527.2(ZSCAN32):c.1999G>C (p.Glu667Gln)	ZSCAN32 (E378Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323570	NM_001284527.2(ZSCAN32):c.1640A>T (p.Lys547Met)	ZSCAN32 (K258M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323416	NM_001284527.2(ZSCAN32):c.1730A>G (p.Tyr577Cys)	ZSCAN32 (Y504C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319511	NM_001284527.2(ZSCAN32):c.1557A>C (p.Lys519Asn)	ZSCAN32 (K230N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303433	NM_001284527.2(ZSCAN32):c.1907C>T (p.Ala636Val)	ZSCAN32 (A424V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302417	NM_001284527.2(ZSCAN32):c.1181C>A (p.Pro394His)	ZSCAN32 (P261H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301398	NM_001284527.2(ZSCAN32):c.832C>A (p.Gln278Lys)	ZSCAN32 (Q145K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282818	NM_001284527.2(ZSCAN32):c.1418A>C (p.Glu473Ala)	ZSCAN32 (E261A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282230	NM_001284527.2(ZSCAN32):c.919C>T (p.Arg307Cys)	ZSCAN32 (R174C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269246	NM_001284527.2(ZSCAN32):c.1772G>A (p.Ser591Asn)	ZSCAN32 (S302N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263273	NM_001284527.2(ZSCAN32):c.889C>G (p.Gln297Glu)	ZSCAN32 (Q297E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261154	NM_001284527.2(ZSCAN32):c.986G>C (p.Cys329Ser)	ZSCAN32 (C196S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260296	NM_001284527.2(ZSCAN32):c.1986G>C (p.Arg662Ser)	ZSCAN32 (R589S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256739	NM_001284527.2(ZSCAN32):c.1099A>G (p.Asn367Asp)	ZSCAN32 (N155D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233940	NM_001284527.2(ZSCAN32):c.2033G>A (p.Arg678His)	ZSCAN32 (R466H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 83