TCEA1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	LINC00588, LINC00968 +226 more	Copy number loss	See cases	GPathogenic
Select item 146043	GRCh38/hg38 8q11.23(chr8:53790469-54207499)x3	ATP6V1H, LOC111811969 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2242460	NM_006756.4(TCEA1):c.877G>C (p.Glu293Gln)	TCEA1 (E293Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615153	NM_006756.4(TCEA1):c.836G>A (p.Arg279His)	TCEA1 (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175040	NM_006756.4(TCEA1):c.613A>G (p.Asn205Asp)	TCEA1 (N333D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516025	NM_006756.4(TCEA1):c.481A>G (p.Ile161Val)	TCEA1 (I140V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456703	NM_006756.4(TCEA1):c.361A>G (p.Asn121Asp)	TCEA1 (N100D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520019	NM_006756.4(TCEA1):c.345C>A (p.Asn115Lys)	TCEA1 (N115K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469365	NM_006756.4(TCEA1):c.335A>G (p.Asn112Ser)	TCEA1 (N91S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175039	NM_006756.4(TCEA1):c.283A>G (p.Ile95Val)	TCEA1 (I60V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175038	NM_006756.4(TCEA1):c.227T>C (p.Leu76Ser)	TCEA1 (L268S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175037	NM_006756.4(TCEA1):c.157A>G (p.Ile53Val)	TCEA1 (I181V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684545	GRCh37/hg19 8q11.23(chr8:54906222-55166087)x3	LYPLA1, MRPL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684544	GRCh37/hg19 8q11.23(chr8:54906222-55183775)x3	LYPLA1, MRPL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684543	GRCh37/hg19 8q11.23(chr8:54798193-55200535)x3	LYPLA1, MRPL15 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 979232	GRCh37/hg19 8q11.23(chr8:52605905-54913501)x3	ALKAL1, ATP6V1H +8 more	Copy number gain	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	ADAM18, ADAM2 +78 more	Copy number gain	not provided	GPathogenic
Select item 563544	GRCh37/hg19 8q11.1-11.23(chr8:46863521-55218838)x3	ALKAL1, ATP6V1H +20 more	Copy number gain	not provided	GUncertain significance
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 393993	GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3	ALKAL1, ANK1 +133 more	Copy number gain	See cases	GUncertain significance
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ATP6V1H, NPBWR1 +36 more	Copy number gain	See cases	GPathogenic

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Items: 39