"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MYBPC1"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258664	NM_002465.4(MYBPC1):c.420C>T (p.Thr140=)	MYBPC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 763651	NM_002465.4(MYBPC1):c.665+8C>T	MYBPC1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2643237	NM_002465.4(MYBPC1):c.666-6G>A	MYBPC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2643238	NM_002465.4(MYBPC1):c.1026A>G (p.Thr342=)	LOC105369937, MYBPC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2643239	NM_002465.4(MYBPC1):c.1220T>C (p.Ile407Thr)	LOC105369937, MYBPC1 (I337T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 916303	NM_002465.4(MYBPC1):c.1225G>A (p.Gly409Ser)	LOC105369937, MYBPC1 (G358S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306730	NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys)	LOC105369937, MYBPC1 (R417K +6 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign
Select item 2643240	NM_002465.4(MYBPC1):c.1281A>G (p.Ile427Met)	LOC105369937, MYBPC1 (I357M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806926	NM_002465.4(MYBPC1):c.1352T>C (p.Leu451Pro)	LOC105369937, MYBPC1 (L407P +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306732	NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln)	MYBPC1 (P486Q +6 more)	Single nucleotide variant (missense variant)	MYBPC1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1176604	NM_002465.4(MYBPC1):c.1487T>C (p.Val496Ala)	MYBPC1 (V445A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1711352	NM_002465.4(MYBPC1):c.1908C>T (p.Ser636=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211544	NM_002465.4(MYBPC1):c.1946T>C (p.Val649Ala)	MYBPC1 (V649A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 306742	NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=)	MYBPC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2643241	NM_002465.4(MYBPC1):c.2357-979C>A	MYBPC1 (A764E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3026100	NM_002465.4(MYBPC1):c.2908A>G (p.Ile970Val)	MYBPC1 (I900V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306749	NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B +1 more	GBenign/Likely benign