2048[HGNC] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
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 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 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	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59427	GRCh38/hg38 16p13.3(chr16:2494804-3246579)x1	LOC130058276, LOC130058277 +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 2532236	NM_021195.5(CLDN6):c.632C>T (p.Pro211Leu)	CLDN6 (P211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318463	NM_021195.5(CLDN6):c.614C>T (p.Pro205Leu)	CLDN6 (P205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145521	NM_021195.5(CLDN6):c.591G>A (p.Met197Ile)	CLDN6 (M197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351885	NM_021195.5(CLDN6):c.506C>T (p.Ala169Val)	CLDN6 (A169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330381	NM_021195.5(CLDN6):c.484G>T (p.Ala162Ser)	CLDN6 (A162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468817	NM_021195.5(CLDN6):c.443A>G (p.Tyr148Cys)	CLDN6 (Y148C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373554	NM_021195.5(CLDN6):c.434G>A (p.Arg145Gln)	CLDN6 (R145Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267626	NM_021195.5(CLDN6):c.406G>A (p.Val136Met)	CLDN6 (V136M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260660	NM_021195.5(CLDN6):c.404C>G (p.Pro135Arg)	CLDN6 (P135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145520	NM_021195.5(CLDN6):c.379A>G (p.Ile127Val)	CLDN6 (I127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145519	NM_021195.5(CLDN6):c.346C>T (p.Arg116Cys)	CLDN6 (R116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463215	NM_021195.5(CLDN6):c.326A>G (p.Glu109Gly)	CLDN6 (E109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233287	NM_021195.5(CLDN6):c.259G>A (p.Ala87Thr)	CLDN6 (A87T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267625	NM_021195.5(CLDN6):c.241C>T (p.Arg81Cys)	CLDN6 (R81C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457365	NM_021195.5(CLDN6):c.215C>T (p.Ala72Val)	CLDN6 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554699	NM_021195.5(CLDN6):c.121G>T (p.Val41Leu)	CLDN6 (V41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768741	NM_021195.5(CLDN6):c.42A>G (p.Thr14=)	CLDN6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243524	NC_000016.9:g.(?_2550259)_(3154076_?)del	AMDHD2, ATP6V0C +26 more	Deletion	Caused by mutation in the TBC1 domain family, member 24 +2 more	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	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 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	TIGD7, TMEM204 +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 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	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 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)	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 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: 59