"Fulgent Genetics, Fulgent Genetics"[submitter] AND "BICC1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1383883	NM_001080512.3(BICC1):c.41C>T (p.Ser14Leu)	BICC1 (S14L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1181881	NM_001080512.3(BICC1):c.707A>G (p.Asn236Ser)	BICC1 (N236S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 786158	NM_001080512.3(BICC1):c.846T>C (p.Ala282=)	BICC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1601688	NM_001080512.3(BICC1):c.1038A>G (p.Gln346=)	BICC1	Single nucleotide variant (synonymous variant)	Renal dysplasia, cystic, susceptibility to +1 more	GBenign
Select item 992901	NM_001080512.3(BICC1):c.1718A>G (p.His573Arg)	BICC1 (H573R)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 1312346	NM_001080512.3(BICC1):c.1910C>A (p.Ser637Tyr)	BICC1 (S637Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1636766	NM_001080512.3(BICC1):c.2016-19C>T	BICC1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1526374	NM_001080512.3(BICC1):c.2047C>T (p.Leu683=)	BICC1	Single nucleotide variant (synonymous variant)	Renal dysplasia, cystic, susceptibility to +1 more	GBenign/Likely benign
Select item 382305	NM_001080512.3(BICC1):c.2411G>A (p.Arg804His)	BICC1 (R804H)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1357855	NM_001080512.3(BICC1):c.2828C>T (p.Ser943Leu)	BICC1 (S943L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance