TMEM178A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 3326866	NM_152390.3(TMEM178A):c.121G>C (p.Glu41Gln)	TMEM178A (E41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546358	NM_152390.3(TMEM178A):c.153C>G (p.Asp51Glu)	TMEM178A (D51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178993	NM_152390.3(TMEM178A):c.173G>T (p.Arg58Leu)	TMEM178A (R58L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326867	NM_152390.3(TMEM178A):c.211C>T (p.Pro71Ser)	TMEM178A (P71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217811	NM_152390.3(TMEM178A):c.256G>A (p.Asp86Asn)	TMEM178A (D86N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298016	NM_152390.3(TMEM178A):c.316C>T (p.Pro106Ser)	TMEM178A (P106S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303143	NM_152390.3(TMEM178A):c.320T>C (p.Leu107Pro)	TMEM178A (L107P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178994	NM_152390.3(TMEM178A):c.427A>C (p.Lys143Gln)	TMEM178A (K143Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2461044	NM_152390.3(TMEM178A):c.452G>A (p.Arg151His)	TMEM178A (R151H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2311916	NM_152390.3(TMEM178A):c.458G>A (p.Arg153Gln)	TMEM178A (R153Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3326868	NM_152390.3(TMEM178A):c.463A>G (p.Ile155Val)	TMEM178A (I155V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3178995	NM_152390.3(TMEM178A):c.478A>T (p.Thr160Ser)	TMEM178A (T160S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3326869	NM_152390.3(TMEM178A):c.839T>C (p.Phe280Ser)	TMEM178A (F280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178996	NM_152390.3(TMEM178A):c.842T>C (p.Ile281Thr)	TMEM178A (I281T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530333	NM_152390.3(TMEM178A):c.848G>A (p.Arg283Gln)	TMEM178A (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148852	GRCh37/hg19 2p22.1(chr2:39234590-40799474)x3	CDKL4, MAP4K3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526452	GRCh37/hg19 2p22.1-21(chr2:39751028-43437611)	COX7A2L, EML4 +9 more	Copy number loss	not specified	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814239	GRCh37/hg19 2p22.1(chr2:39578669-40167082)x3	THUMPD2, MAP4K3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635956	NC_000002.11:g.39053852_42501893dup	SLC8A1, SOS1 +11 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	PKDCC, PLEKHH2 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394984	GRCh37/hg19 2p22.1(chr2:39559513-39899504)x1	MAP4K3, TMEM178A	Copy number loss	See cases	GLikely benign
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39