ClinVar for Gene (Select 116441) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326459	NM_138786.4(TM4SF18):c.197T>C (p.Val66Ala)	TM4SF18, TM4SF18-AS1 (V66A)	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 3178103	NM_138786.4(TM4SF18):c.92C>T (p.Pro31Leu)	TM4SF18, TM4SF18-AS1 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2620856	NM_138786.4(TM4SF18):c.250T>G (p.Cys84Gly)	TM4SF18, TM4SF18-AS1 (C84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593299	NM_138786.4(TM4SF18):c.136T>C (p.Tyr46His)	TM4SF18, TM4SF18-AS1 (Y46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553635	NM_138786.4(TM4SF18):c.497T>C (p.Ile166Thr)	TM4SF18, TM4SF18-AS1 (I166T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550310	NM_138786.4(TM4SF18):c.403G>A (p.Ala135Thr)	TM4SF18, TM4SF18-AS1 (A135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539347	NM_138786.4(TM4SF18):c.485T>C (p.Phe162Ser)	TM4SF18, TM4SF18-AS1 (F162S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478305	NM_138786.4(TM4SF18):c.139G>A (p.Val47Met)	TM4SF18, TM4SF18-AS1 (V47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365517	NM_138786.4(TM4SF18):c.578C>T (p.Ser193Leu)	TM4SF18, TM4SF18-AS1 (S193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343071	NM_138786.4(TM4SF18):c.371T>C (p.Leu124Pro)	TM4SF18, TM4SF18-AS1 (L124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284208	NM_138786.4(TM4SF18):c.199C>A (p.Leu67Ile)	TM4SF18, TM4SF18-AS1 (L67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277236	NM_138786.4(TM4SF18):c.536G>T (p.Arg179Ile)	TM4SF18, TM4SF18-AS1 (R179I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242274	NM_138786.4(TM4SF18):c.419C>T (p.Thr140Ile)	TM4SF18, TM4SF18-AS1 (T140I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CLRN1, COMMD2 +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
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 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34