DEXI[gene] - ClinVar

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Items: 41

	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 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 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 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148534	GRCh38/hg38 16p13.13(chr16:10778551-11374173)x3	CIITA, CLEC16A +81 more	Copy number gain	See cases	GLikely benign
Select item 2279910	NM_014015.4(DEXI):c.262G>C (p.Asp88His)	CIITA, DEXI (D88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368000	NM_014015.4(DEXI):c.226C>T (p.Pro76Ser)	CIITA, DEXI (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271666	NM_014015.4(DEXI):c.221C>T (p.Ser74Phe)	CIITA, DEXI (S74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314139	NM_014015.4(DEXI):c.217C>T (p.Leu73Phe)	CIITA, DEXI (L73F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480288	NM_014015.4(DEXI):c.208C>A (p.Leu70Ile)	CIITA, DEXI (L70I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271667	NM_014015.4(DEXI):c.106G>A (p.Val36Ile)	CIITA, DEXI (V36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459740	NM_014015.4(DEXI):c.100T>C (p.Phe34Leu)	CIITA, DEXI (F34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220671	NM_014015.4(DEXI):c.70C>G (p.Leu24Val)	CIITA, DEXI (L24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544596	NM_014015.4(DEXI):c.43C>T (p.Pro15Ser)	CIITA, DEXI (P15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600640	NM_014015.4(DEXI):c.37C>G (p.Leu13Val)	CIITA, DEXI (L13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332996	NM_014015.4(DEXI):c.33C>A (p.Asp11Glu)	CIITA, DEXI (D11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409461	NM_014015.4(DEXI):c.28C>G (p.Leu10Val)	CIITA, DEXI (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239518	NM_014015.4(DEXI):c.26A>C (p.His9Pro)	CIITA, DEXI (H9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243332	NC_000016.9:g.(?_10971188)_(11650586_?)del	CIITA, CLEC16A +8 more	Deletion	MHC class II deficiency	GPathogenic
Select item 2423419	NC_000016.9:g.(?_8829597)_(11683693_?)dup	ABAT, ATF7IP2 +20 more	Duplication	Landau-Kleffner syndrome	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1480512	NC_000016.9:g.(?_8829597)_(11650586_?)dup	NUBP1, PMM2 +20 more	Duplication	MHC class II deficiency +1 more	GUncertain significance
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 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 684953	GRCh37/hg19 16p13.2-13.13(chr16:10196800-11037738)x1	DEXI, EMP2 +6 more	Copy number loss	not provided	GPathogenic
Select item 564270	GRCh37/hg19 16p13.13(chr16:10529891-11889585)x3	LITAF, ZC3H7A +16 more	Copy number gain	not provided	GUncertain significance
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 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
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 442605	GRCh37/hg19 16p13.13(chr16:10519916-11249329)x3	ATF7IP2, CIITA +6 more	Copy number gain	See cases	GLikely benign
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
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 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	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: 41