18797[HGNC] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	AMDHD2, ATP6V0C +148 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 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 2256716	NM_172229.3(KREMEN2):c.50T>G (p.Leu17Arg)	KREMEN2 (L17R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299760	NM_172229.3(KREMEN2):c.62G>C (p.Arg21Pro)	KREMEN2 (R21P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337996	NM_172229.3(KREMEN2):c.64G>A (p.Gly22Arg)	KREMEN2 (G22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475117	NM_172229.3(KREMEN2):c.95G>T (p.Gly32Val)	KREMEN2 (G32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258361	NM_172229.3(KREMEN2):c.133C>A (p.Arg45Ser)	KREMEN2 (R45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331151	NM_172229.3(KREMEN2):c.241T>G (p.Trp81Gly)	KREMEN2 (W81G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303648	NM_172229.3(KREMEN2):c.304G>A (p.Val102Met)	KREMEN2 (V102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329111	NM_172229.3(KREMEN2):c.343G>A (p.Asp115Asn)	KREMEN2 (D115N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316086	NM_172229.3(KREMEN2):c.414C>A (p.Ser138Arg)	KREMEN2 (S138R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 487788	NM_172229.3(KREMEN2):c.494G>T (p.Gly165Val)	KREMEN2 (G165V)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 2231333	NM_172229.3(KREMEN2):c.724G>A (p.Asp242Asn)	KREMEN2 (D242N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394463	NM_172229.3(KREMEN2):c.771G>C (p.Glu257Asp)	KREMEN2 (E257D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379991	NM_172229.3(KREMEN2):c.784C>T (p.Leu262Phe)	KREMEN2 (L262F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511841	NM_172229.3(KREMEN2):c.808G>A (p.Asp270Asn)	KREMEN2 (D231N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348840	NM_172229.3(KREMEN2):c.883G>C (p.Gly295Arg)	KREMEN2 (G256R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460147	NM_172229.3(KREMEN2):c.971G>A (p.Arg324His)	KREMEN2 (R324H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219545	NM_172229.3(KREMEN2):c.986C>A (p.Ala329Asp)	KREMEN2 (A329D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776964	NM_172229.3(KREMEN2):c.1027C>T (p.Pro343Ser)	KREMEN2 (P304S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2646093	NM_172229.3(KREMEN2):c.1032G>A (p.Ala344=)	KREMEN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209949	NM_172229.3(KREMEN2):c.1043A>C (p.Asp348Ala)	KREMEN2 (D309A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465518	NM_172229.3(KREMEN2):c.1087G>A (p.Ala363Thr)	KREMEN2 (A363T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519136	NM_172229.3(KREMEN2):c.1162C>T (p.Arg388Cys)	KREMEN2 (R388C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307392	NM_172229.3(KREMEN2):c.1181G>A (p.Ser394Asn)	KREMEN2 (A329T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494031	NM_172229.3(KREMEN2):c.1303C>A (p.Pro435Thr)	KREMEN2 (P435T +1 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248070	NM_172229.3(KREMEN2):c.1361C>T (p.Ser454Phe)	KREMEN2 (S415F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	ADCY9, ANKS3 +52 more	Copy number loss	not provided	GPathogenic
Select item 3024594	GRCh37/hg19 16p13.3(chr16:2979687-3220680)x3	BICDL2, CLDN6 +13 more	Copy number gain	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 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	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 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 688363	GRCh37/hg19 16p13.3(chr16:2716924-3055626)x3	ELOB, FLYWCH1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687933	GRCh37/hg19 16p13.3(chr16:2859583-3056563)x3	FLYWCH1, FLYWCH2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 685548	GRCh37/hg19 16p13.3(chr16:2817166-3056563)x3	ELOB, FLYWCH1 +10 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 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 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 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 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	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 442735	GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3	BICDL2, CLDN6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 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 394766	GRCh37/hg19 16p13.3(chr16:2998808-3062608)x3	CLDN9, FLYWCH1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
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

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Items: 69