LIN7A[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 57587	GRCh38/hg38 12q21.31(chr12:80393097-81021534)x1	LIN7A, LINC01490 +11 more	Copy number loss	See cases	GPathogenic
Select item 57589	GRCh38/hg38 12q21.31(chr12:80538484-80798086)x1	LIN7A, LINC01490 +8 more	Copy number loss	See cases	GPathogenic
Select item 148208	GRCh38/hg38 12q21.31(chr12:80752724-80856919)x1	LIN7A, LINC01490 +2 more	Copy number loss	See cases	GLikely benign
Select item 2611325	NM_004664.4(LIN7A):c.651G>T (p.Gln217His)	LIN7A (Q146H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782781	NM_004664.4(LIN7A):c.567C>A (p.Thr189=)	LIN7A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2306826	NM_004664.4(LIN7A):c.428C>T (p.Ala143Val)	LIN7A (A143V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118938	NM_004664.4(LIN7A):c.424G>A (p.Val142Met)	LIN7A (V142M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456151	NM_004664.4(LIN7A):c.415C>T (p.Pro139Ser)	LIN7A (P68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262562	NM_004664.4(LIN7A):c.400A>G (p.Ile134Val)	LIN7A (I134V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406630	NM_004664.4(LIN7A):c.339G>T (p.Lys113Asn)	LIN7A (K113N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 218645	NM_004664.4(LIN7A):c.274-4del	LIN7A	Deletion (intron variant)	not specified	GBenign
Select item 3118936	NM_004664.4(LIN7A):c.247G>A (p.Glu83Lys)	LIN7A (E83K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212941	NM_004664.4(LIN7A):c.58G>A (p.Val20Ile)	LIN7A (V20I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3118937	NM_004664.4(LIN7A):c.28C>T (p.Pro10Ser)	LIN7A (P10S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063246	GRCh37/hg19 12q21.31(chr12:80696867-81266911)x1	LIN7A, MYF5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 1527717	GRCh37/hg19 12q21.31(chr12:80902982-81207393)	LIN7A, MYF5 +2 more	Copy number loss	not specified	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 689025	GRCh37/hg19 12q21.31(chr12:81327644-82029969)x1	ACSS3, LIN7A +1 more	Copy number loss	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 687194	GRCh37/hg19 12q21.31(chr12:81179432-81274967)x3	LIN7A	Copy number gain	not provided	GUncertain significance
Select item 686403	GRCh37/hg19 12q21.31(chr12:81197619-81306996)x3	LIN7A	Copy number gain	not provided	GUncertain significance
Select item 524172	t(12;14)(q14;q13)dn	LIN7A, NPAS3	Translocation	not provided	GLikely pathogenic
Select item 443485	GRCh37/hg19 12q21.31(chr12:80622857-81449637)x3	LIN7A, MYF5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221491	GRCh37/hg19 12q21.31(chr12:80927874-81503412)x3	ACSS3, LIN7A +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 35