TMEM150A[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 2542325	NM_001031738.3(TMEM150A):c.767G>C (p.Ser256Thr)	TMEM150A (S203T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178863	NM_001031738.3(TMEM150A):c.757G>A (p.Gly253Arg)	TMEM150A (G253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178862	NM_001031738.3(TMEM150A):c.727C>T (p.Pro243Ser)	TMEM150A (P190S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178861	NM_001031738.3(TMEM150A):c.449C>T (p.Ala150Val)	TMEM150A (A97V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242636	NM_001031738.3(TMEM150A):c.272C>T (p.Ala91Val)	TMEM150A (A38V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588228	NM_001031738.3(TMEM150A):c.134C>T (p.Pro45Leu)	TMEM150A (L15F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610780	NM_001031738.3(TMEM150A):c.103G>A (p.Val35Met)	TMEM150A (V35M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178865	NM_001031738.3(TMEM150A):c.86A>G (p.Asn29Ser)	TMEM150A (N29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178864	NM_001031738.3(TMEM150A):c.7G>A (p.Ala3Thr)	TMEM150A (A3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426780	NC_000002.11:g.(?_85766411)_(86564633_?)del	POLR1A, ATOH8 +15 more	Deletion	Hereditary spastic paraplegia 31	GPathogenic
Select item 1809304	GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	ATOH8, C2orf68 +14 more	Copy number gain	not provided	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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 980433	GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	GGCX, VAMP5 +14 more	Copy number gain	not provided	GUncertain significance
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 more	Copy number gain	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +81 more	Copy number loss	See cases	GPathogenic
Select item 221379	GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3	C2orf68, CAPG +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 27