ClinVar for Gene (Select 130733) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	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 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 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 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 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
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 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39