9080[geneid] - ClinVar

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Items: 85

	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 3067290	NM_020982.4(CLDN9):c.12C>T (p.Thr4=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412430	NM_020982.4(CLDN9):c.13G>A (p.Gly5Ser)	CLDN9 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339780	NM_020982.4(CLDN9):c.20A>G (p.Glu7Gly)	CLDN9 (E7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537593	NM_020982.4(CLDN9):c.33G>A (p.Met11Ile)	CLDN9 (M11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267632	NM_020982.4(CLDN9):c.67G>A (p.Val23Met)	CLDN9 (V23M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984737	NM_020982.4(CLDN9):c.86del (p.Leu29fs)	CLDN9 (L29fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 116	GPathogenic
Select item 2294964	NM_020982.4(CLDN9):c.137T>G (p.Val46Gly)	CLDN9 (V46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354242	NM_020982.4(CLDN9):c.158C>A (p.Ser53Tyr)	CLDN9 (S53Y)	Single nucleotide variant (missense variant)	CLDN9-related disorder	GLikely benign
Select item 2646094	NM_020982.4(CLDN9):c.177G>A (p.Thr59=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145532	NM_020982.4(CLDN9):c.196G>C (p.Val66Leu)	CLDN9 (V66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333680	NM_020982.4(CLDN9):c.199T>C (p.Tyr67His)	CLDN9 (Y67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498646	NM_020982.4(CLDN9):c.222G>A (p.Pro74=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2570928	NM_020982.4(CLDN9):c.241C>T (p.Arg81Cys)	CLDN9 (R81C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488444	NM_020982.4(CLDN9):c.308A>G (p.Gln103Arg)	CLDN9 (Q103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024792	NM_020982.4(CLDN9):c.318G>A (p.Thr106=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3267630	NM_020982.4(CLDN9):c.320G>T (p.Cys107Phe)	CLDN9 (C107F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522829	NM_020982.4(CLDN9):c.330C>G (p.Asp110Glu)	CLDN9 (D110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457387	NM_020982.4(CLDN9):c.335G>A (p.Gly112Asp)	CLDN9 (G112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293219	NM_020982.4(CLDN9):c.343G>A (p.Ala115Thr)	CLDN9 (A115T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3250379	NM_020982.4(CLDN9):c.346C>T (p.Arg116Cys)	CLDN9 (R116C)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 116	GLikely pathogenic
Select item 2458524	NM_020982.4(CLDN9):c.347G>A (p.Arg116His)	CLDN9 (R116H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 977488	NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup)	CLDN9	Duplication (inframe_insertion)	Hearing loss, autosomal recessive 116 +1 more	GPathogenic/Likely pathogenic
Select item 3267631	NM_020982.4(CLDN9):c.383C>G (p.Ala128Gly)	CLDN9 (A128G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352743	NM_020982.4(CLDN9):c.385G>A (p.Gly129Ser)	CLDN9 (G129S)	Single nucleotide variant (missense variant)	CLDN9-related disorder	GLikely benign
Select item 3257202	NM_020982.4(CLDN9):c.405T>C (p.Pro135=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064912	NM_020982.4(CLDN9):c.416C>T (p.Thr139Met)	CLDN9 (T139M)	Single nucleotide variant (missense variant)	Hearing impairment	GUncertain significance
Select item 2466897	NM_020982.4(CLDN9):c.419C>T (p.Ala140Val)	CLDN9 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646095	NM_020982.4(CLDN9):c.451C>T (p.Leu151=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213221	NM_020982.4(CLDN9):c.472C>T (p.Arg158Trp)	CLDN9 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 869102	NM_020982.4(CLDN9):c.475G>A (p.Glu159Lys)	CLDN9 (E159K)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 2317342	NM_020982.4(CLDN9):c.484G>T (p.Ala162Ser)	CLDN9 (A162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1064901	NM_020982.4(CLDN9):c.500dup (p.Trp168fs)	CLDN9 (W168fs)	Duplication (frameshift variant)	Pendred syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3267633	NM_020982.4(CLDN9):c.527T>C (p.Leu176Pro)	CLDN9 (L176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646096	NM_020982.4(CLDN9):c.552G>A (p.Thr184=)	CLDN9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145534	NM_020982.4(CLDN9):c.554G>T (p.Cys185Phe)	CLDN9 (C185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145535	NM_020982.4(CLDN9):c.557C>A (p.Pro186His)	CLDN9 (P186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351494	NM_020982.4(CLDN9):c.560C>T (p.Pro187Leu)	CLDN9 (P187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386274	NM_020982.4(CLDN9):c.568G>T (p.Val190Phe)	CLDN9 (V190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036113	NM_020982.4(CLDN9):c.571G>A (p.Glu191Lys)	CLDN9 (E191K)	Single nucleotide variant (missense variant)	CLDN9-related disorder	GUncertain significance
Select item 2463570	NM_020982.4(CLDN9):c.596G>C (p.Gly199Ala)	CLDN9 (G199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879323	NM_020982.4(CLDN9):c.614G>A (p.Arg205His)	CLDN9 (R205H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2396592	NM_020982.4(CLDN9):c.649G>A (p.Val217Met)	CLDN9 (V217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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)	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: 85