Related gene-specific medical variations for Gene (Select 148229) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131999	NM_138813.4(ATP8B3):c.1945C>G (p.Arg649Gly)	ATP8B3, LOC121627845 (R602G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131998	NM_138813.4(ATP8B3):c.1880G>A (p.Arg627Gln)	ATP8B3, LOC121627845 (R580Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131997	NM_138813.4(ATP8B3):c.1810C>T (p.Arg604Trp)	ATP8B3, LOC121627845 (R557W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067219	NM_138813.4(ATP8B3):c.3056G>A (p.Gly1019Asp)	ATP8B3, LOC130062987 (G1019D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2616688	NM_138813.4(ATP8B3):c.1837C>T (p.Arg613Cys)	ATP8B3, LOC121627845 (R566C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528829	NM_138813.4(ATP8B3):c.2023G>T (p.Ala675Ser)	ATP8B3, LOC121627845 (A675S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488015	NM_138813.4(ATP8B3):c.1951C>G (p.Pro651Ala)	ATP8B3, LOC121627845 (P604A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409684	NM_138813.4(ATP8B3):c.1921C>T (p.Arg641Cys)	ATP8B3, LOC121627845 (R641C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409242	NM_138813.4(ATP8B3):c.2006G>A (p.Arg669His)	ATP8B3, LOC121627845 (R669H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373821	NM_138813.4(ATP8B3):c.1960G>A (p.Ala654Thr)	ATP8B3, LOC121627845 (A607T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2373614	NM_138813.4(ATP8B3):c.3025A>C (p.Met1009Leu)	ATP8B3, LOC130062987 (M1009L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343184	NM_138813.4(ATP8B3):c.2002G>C (p.Glu668Gln)	ATP8B3, LOC121627845 (E621Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2294500	NM_138813.4(ATP8B3):c.1990A>G (p.Thr664Ala)	ATP8B3, LOC121627845 (T664A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285218	NM_138813.4(ATP8B3):c.1994T>G (p.Val665Gly)	ATP8B3, LOC121627845 (V618G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284520	NM_138813.4(ATP8B3):c.1913A>G (p.Asn638Ser)	ATP8B3, LOC121627845 (N638S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708843	NM_138813.4(ATP8B3):c.1945C>T (p.Arg649Ter)	ATP8B3, LOC121627845 (R602* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign