TMEM106A[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 150635	GRCh38/hg38 17q21.31(chr17:43124234-43520458)x3	ARL4D, BRCA1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 2355722	NM_145041.4(TMEM106A):c.17C>A (p.Ser6Tyr)	TMEM106A (S6Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603997	NM_145041.4(TMEM106A):c.101C>G (p.Ser34Cys)	TMEM106A (S34C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 777183	NM_145041.4(TMEM106A):c.136G>A (p.Val46Met)	TMEM106A (V46M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3178409	NM_145041.4(TMEM106A):c.236T>C (p.Leu79Pro)	TMEM106A (L31P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178410	NM_145041.4(TMEM106A):c.331G>A (p.Val111Ile)	TMEM106A (V111I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542563	NM_145041.4(TMEM106A):c.350G>C (p.Arg117Pro)	TMEM106A (R117P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178411	NM_145041.4(TMEM106A):c.385T>A (p.Ser129Thr)	TMEM106A (S81T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178412	NM_145041.4(TMEM106A):c.455A>C (p.Asn152Thr)	TMEM106A (N152T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730915	NM_145041.4(TMEM106A):c.483G>C (p.Leu161=)	TMEM106A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2606725	NM_145041.4(TMEM106A):c.575T>C (p.Phe192Ser)	TMEM106A (F145S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178413	NM_145041.4(TMEM106A):c.578A>T (p.Tyr193Phe)	TMEM106A (Y145F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178414	NM_145041.4(TMEM106A):c.598C>T (p.Arg200Trp)	TMEM106A (R152W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178415	NM_145041.4(TMEM106A):c.698A>G (p.His233Arg)	TMEM106A (H185R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692392	NC_000017.10:g.41217612_41400090del	NBR2, BRCA1 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1713241	NC_000017.10:g.41221355_41380248del	NBR1, NBR2 +2 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1526577	GRCh37/hg19 17q21.31(chr17:41202796-41974964)	ARL4D, BRCA1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 980720	GRCh37/hg19 17q21.31(chr17:41221565-41775043)x3	ARL4D, BRCA1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 584346	NC_000017.10:g.(?_41276016)_(41635727_?)dup	ARL4D, BRCA1 +5 more	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 442490	GRCh37/hg19 17q21.31(chr17:41213892-41554856)x3	ARL4D, BRCA1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 28