ClinVar for MedGen (Select 477529) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066390	NM_001080512.3(BICC1):c.2229_2230insGA (p.Lys744fs)	BICC1, LOC126860938 (K744fs)	Insertion (frameshift variant)	Renal dysplasia, cystic, susceptibility to	GLikely pathogenic
Select item 2443049	NM_001080512.3(BICC1):c.1725+3_1725+6dup	BICC1	Duplication (intron variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 1711182	NM_001080512.3(BICC1):c.1858+1G>T	BICC1	Single nucleotide variant (splice donor variant)	Renal dysplasia, cystic, susceptibility to	GPathogenic
Select item 1709315	NM_001080512.3(BICC1):c.129C>G (p.Ser43Arg)	BICC1 (S43R)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	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 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 1526374	NM_001080512.3(BICC1):c.2047C>T (p.Leu683=)	BICC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 1357855	NM_001080512.3(BICC1):c.2828C>T (p.Ser943Leu)	BICC1 (S943L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328413	NM_000789.4(ACE):c.417+5G>A	ACE	Single nucleotide variant (intron variant)	Renal dysplasia, cystic, susceptibility to +1 more	GUncertain significance
Select item 1328412	NM_000685.5(AGTR1):c.377G>C (p.Arg126Pro)	AGTR1 (R126P)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to +1 more	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 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 1048654	NM_001080512.3(BICC1):c.93del (p.Glu32fs)	BICC1 (E32fs)	Deletion (frameshift variant)	Renal dysplasia, cystic, susceptibility to	GPathogenic
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 992392	NM_001080512.3(BICC1):c.937A>G (p.Arg313Gly)	BICC1 (R313G)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 973896	NM_001080512.3(BICC1):c.1733A>C (p.Asp578Ala)	BICC1 (D578A)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	GUncertain significance
Select item 830010	NM_001080512.3(BICC1):c.933G>A (p.Met311Ile)	BICC1 (M311I)	Single nucleotide variant (missense variant)	Renal dysplasia, cystic, susceptibility to	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 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 31154	NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly)	BICC1 (E932G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31153	NM_001080512.3(BICC1):c.259C>T (p.Gln87Ter)	BICC1 (Q87*)	Single nucleotide variant (nonsense)	Renal dysplasia, cystic, susceptibility to	Grisk factor

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Items: 22