TMBIM4[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150076	GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	AVPR1A, C12orf56 +144 more	Copy number loss	See cases	GPathogenic
Select item 3235055	GRCh38/hg38 12q14.2-15(chr12:63871239-67314524)	LOC124629394, LOC124629395 +108 more	Copy number loss	Silver-Russell syndrome 5	GUncertain significance
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 3178196	NM_016056.4(TMBIM4):c.712A>G (p.Lys238Glu)	TMBIM4 (K207E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362484	NM_016056.4(TMBIM4):c.689G>A (p.Arg230Gln)	TMBIM4 (R230Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178195	NM_016056.4(TMBIM4):c.631G>A (p.Val211Ile)	TMBIM4 (V258I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509739	NM_016056.4(TMBIM4):c.580A>G (p.Ile194Val)	TMBIM4 (I163V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326500	NM_016056.4(TMBIM4):c.472G>T (p.Ala158Ser)	TMBIM4 (A205S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215360	NM_016056.4(TMBIM4):c.361G>A (p.Val121Ile)	TMBIM4 (V121I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326761	NM_016056.4(TMBIM4):c.353T>C (p.Phe118Ser)	TMBIM4 (F87S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231754	NM_016056.4(TMBIM4):c.322G>A (p.Glu108Lys)	TMBIM4 (E77K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338326	NM_016056.4(TMBIM4):c.267A>T (p.Leu89Phe)	TMBIM4 (L89F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178194	NM_016056.4(TMBIM4):c.188G>A (p.Arg63Gln)	TMBIM4 (R32Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250069	NM_016056.4(TMBIM4):c.187C>T (p.Arg63Trp)	TMBIM4 (R32W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326499	NM_016056.4(TMBIM4):c.137T>G (p.Val46Gly)	TMBIM4 (V15G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643165	NM_016056.4(TMBIM4):c.99C>T (p.Ala33=)	TMBIM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2513172	NM_016056.4(TMBIM4):c.74C>T (p.Ser25Phe)	TMBIM4 (S25F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178193	NM_016056.4(TMBIM4):c.17C>T (p.Pro6Leu)	TMBIM4 (P6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213415	NM_016056.4(TMBIM4):c.7G>A (p.Asp3Asn)	TMBIM4 (D3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244245	NC_000012.11:g.(?_64173741)_(68052493_?)del	DYRK2, GNS +18 more	Deletion	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 3063238	GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	GRIP1, HELB +7 more	Copy number loss	not specified	GPathogenic
Select item 2685438	GRCh37/hg19 12q14.3(chr12:65716808-66690108)x1	HMGA2, IRAK3 +3 more	Copy number loss	not provided	GPathogenic
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684676	GRCh37/hg19 12q14.3(chr12:66460527-67175455)x3	GRIP1, HELB +3 more	Copy number gain	not provided	GUncertain significance
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 688292	GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	HELB, HMGA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685804	GRCh37/hg19 12q14.3(chr12:66200777-66575257)x1	HMGA2, LLPH +1 more	Copy number loss	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 33