TM4SF1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 155242	GRCh38/hg38 3q24-25.1(chr3:149137353-149419900)x1	CP, HPS3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 2288243	NM_014220.3(TM4SF1):c.454C>A (p.Pro152Thr)	TM4SF1 (P152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178101	NM_014220.3(TM4SF1):c.448A>C (p.Thr150Pro)	TM4SF1 (H101P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235600	NM_014220.3(TM4SF1):c.436T>C (p.Trp146Arg)	TM4SF1 (W146R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460915	NM_014220.3(TM4SF1):c.427A>G (p.Thr143Ala)	TM4SF1 (Y94C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328106	NM_014220.3(TM4SF1):c.371C>T (p.Ser124Phe)	TM4SF1 (S124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328105	NM_014220.3(TM4SF1):c.369T>G (p.Asp123Glu)	TM4SF1 (D123E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323404	NM_014220.3(TM4SF1):c.308G>A (p.Gly103Glu)	TM4SF1 (G103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178100	NM_014220.3(TM4SF1):c.292C>T (p.Leu98Phe)	TM4SF1 (L98F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178099	NM_014220.3(TM4SF1):c.235T>C (p.Cys79Arg)	TM4SF1 (C79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326457	NM_014220.3(TM4SF1):c.203T>C (p.Ile68Thr)	TM4SF1 (I68T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326458	NM_014220.3(TM4SF1):c.134G>T (p.Arg45Leu)	TM4SF1 (R45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515310	NM_014220.3(TM4SF1):c.23G>A (p.Arg8Gln)	TM4SF1 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246874	NC_000003.11:g.(?_148447967)_(149678891_?)del	AGTR1, ANKUB1 +12 more	Deletion	Deficiency of ferroxidase	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	TM4SF18, TM4SF4 +28 more	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814486	GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1	WWTR1, CP +23 more	Copy number loss	not provided	GLikely pathogenic
Select item 687929	GRCh37/hg19 3q24-25.1(chr3:148855964-149227161)x3	CP, HPS3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687794	GRCh37/hg19 3q24-25.1(chr3:148855964-149130487)x1	CP, HPS3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 33