TMEM9B[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 3179772	NM_020644.3(TMEM9B):c.502G>A (p.Val168Met)	TMEM9B (V168M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179771	NM_020644.3(TMEM9B):c.469G>A (p.Asp157Asn)	TMEM9B (D83N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179770	NM_020644.3(TMEM9B):c.418A>C (p.Ile140Leu)	TMEM9B (I66L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307261	NM_020644.3(TMEM9B):c.283G>C (p.Glu95Gln)	TMEM9B (E95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179769	NM_020644.3(TMEM9B):c.262C>T (p.Arg88Cys)	TMEM9B (R14C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311930	NM_020644.3(TMEM9B):c.96C>A (p.Asp32Glu)	LOC130005257, TMEM9B (D32E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2219277	NM_020644.3(TMEM9B):c.95A>T (p.Asp32Val)	LOC130005257, TMEM9B (D32V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815409	GRCh37/hg19 11p15.4(chr11:8859352-9226956)x3	ASCL3, AKIP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic
Select item 563880	GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	AKIP1, ANO9 +222 more	Copy number gain	not provided	GPathogenic
Select item 563871	GRCh37/hg19 11p15.4(chr11:6969013-9257231)x3	ZNF214, NLRP10 +28 more	Copy number gain	not provided	GPathogenic
Select item 563868	GRCh37/hg19 11p15.4(chr11:7837338-9295428)x3	TRIM66, STK33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 395012	GRCh37/hg19 11p15.4(chr11:8902282-9200052)x3	NRIP3, AKIP1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 394901	GRCh37/hg19 11p15.4(chr11:8959136-8968875)x1	ASCL3, TMEM9B	Copy number loss	See cases	GLikely benign

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Items: 26