7104[Gene ID] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937661, LOC129937662 +320 more	Copy number loss	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 2347203	NM_004617.4(TM4SF4):c.71C>A (p.Ala24Asp)	TM4SF4 (A24D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477552	NM_004617.4(TM4SF4):c.226G>A (p.Gly76Arg)	TM4SF4 (G76R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393325	NM_004617.4(TM4SF4):c.242A>T (p.Glu81Val)	TM4SF4 (E81V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526637	NM_004617.4(TM4SF4):c.244G>C (p.Gly82Arg)	TM4SF4 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214106	NM_004617.4(TM4SF4):c.280A>G (p.Ile94Val)	TM4SF4 (I94V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247249	NM_004617.4(TM4SF4):c.397G>T (p.Asp133Tyr)	TM4SF4 (D133Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556657	NM_004617.4(TM4SF4):c.442G>A (p.Glu148Lys)	TM4SF4 (E148K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2323553	NM_004617.4(TM4SF4):c.496G>T (p.Val166Leu)	TM4SF4 (V166L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245025	NM_004617.4(TM4SF4):c.496G>A (p.Val166Ile)	TM4SF4 (V166I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2265318	NM_004617.4(TM4SF4):c.556C>T (p.Leu186Phe)	TM4SF4 (L186F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +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	CLRN1, CPA3 +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	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +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 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +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	ANKUB1, AADAC +35 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 28