LIN7A[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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