"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CHAMP1"[ge - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1013044	NM_032436.4(CHAMP1):c.22C>T (p.Arg8Cys)	CHAMP1 (R8C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025022	NM_032436.4(CHAMP1):c.37C>T (p.Arg13Cys)	CHAMP1 (R13C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025830	NM_032436.4(CHAMP1):c.412G>C (p.Gly138Arg)	CHAMP1 (G138R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3025370	NM_032436.4(CHAMP1):c.446CTC[1] (p.Pro150del)	CHAMP1 (P150del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2237265	NM_032436.4(CHAMP1):c.484G>T (p.Val162Phe)	CHAMP1 (V162F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 731051	NM_032436.4(CHAMP1):c.520_522del (p.Pro174del)	CHAMP1 (P174del)	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 807056	NM_032436.4(CHAMP1):c.584A>G (p.Glu195Gly)	CHAMP1 (E195G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644019	NM_032436.4(CHAMP1):c.632C>T (p.Ala211Val)	CHAMP1 (A211V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 756072	NM_032436.4(CHAMP1):c.675C>A (p.Pro225=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 871658	NM_032436.4(CHAMP1):c.676A>T (p.Lys226Ter)	CHAMP1 (K226*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2644020	NM_032436.4(CHAMP1):c.750A>G (p.Leu250=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701225	NM_032436.4(CHAMP1):c.796G>A (p.Glu266Lys)	CHAMP1 (E266K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644021	NM_032436.4(CHAMP1):c.814C>T (p.Arg272Trp)	CHAMP1 (R272W)	Single nucleotide variant (missense variant)	CHAMP1-related condition +1 more	GLikely benign
Select item 1298574	NM_032436.4(CHAMP1):c.893dup (p.Glu299fs)	CHAMP1 (E299fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2644022	NM_032436.4(CHAMP1):c.977A>G (p.Asn326Ser)	CHAMP1 (N326S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807057	NM_032436.4(CHAMP1):c.1123G>A (p.Val375Ile)	CHAMP1 (V375I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746293	NM_032436.4(CHAMP1):c.1209G>C (p.Thr403=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1879265	NM_032436.4(CHAMP1):c.1224T>C (p.His408=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717460	NM_032436.4(CHAMP1):c.1311A>G (p.Pro437=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 871659	NM_032436.4(CHAMP1):c.1363C>T (p.Gln455Ter)	CHAMP1 (Q455*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3026133	NM_032436.4(CHAMP1):c.1367G>A (p.Arg456Gln)	CHAMP1 (R456Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644023	NM_032436.4(CHAMP1):c.1485G>C (p.Glu495Asp)	CHAMP1 (E495D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742259	NM_032436.4(CHAMP1):c.1521C>A (p.Ser507=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2672552	NM_032436.4(CHAMP1):c.1552G>C (p.Val518Leu)	CHAMP1 (V518L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025832	NM_032436.4(CHAMP1):c.1596C>T (p.Pro532=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466783	NM_032436.4(CHAMP1):c.1636C>T (p.Arg546Cys)	CHAMP1 (R546C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 710366	NM_032436.4(CHAMP1):c.1664G>A (p.Arg555Gln)	CHAMP1 (R555Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 807058	NM_032436.4(CHAMP1):c.1680_1683dup (p.Glu562delinsProTer)	CHAMP1	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 493138	NM_032436.4(CHAMP1):c.1691C>G (p.Pro564Arg)	CHAMP1 (P564R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739179	NM_032436.4(CHAMP1):c.1702C>G (p.Leu568Val)	CHAMP1 (L568V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2672553	NM_032436.4(CHAMP1):c.1891C>T (p.Leu631Phe)	CHAMP1 (L631F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 762446	NM_032436.4(CHAMP1):c.2025T>C (p.Ser675=)	CHAMP1	Single nucleotide variant (synonymous variant)	CHAMP1-related condition +1 more	GBenign/Likely benign
Select item 773276	NM_032436.4(CHAMP1):c.2409T>G (p.Leu803=)	CHAMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic

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Items: 34