"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "ARPC1B"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2657719	NM_005720.4(ARPC1B):c.33C>T (p.Ile11=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695198	NM_005720.4(ARPC1B):c.311G>C (p.Trp104Ser)	ARPC1B (W104S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1635397	NM_005720.4(ARPC1B):c.477C>T (p.Ala159=)	ARPC1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1168918	NM_005720.4(ARPC1B):c.501-5G>T	ARPC1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1530054	NM_005720.4(ARPC1B):c.648C>T (p.Arg216=)	ARPC1B	Single nucleotide variant (synonymous variant)	ARPC1B-related condition +1 more	GBenign/Likely benign
Select item 3026994	NM_005720.4(ARPC1B):c.950C>T (p.Ala317Val)	ARPC1B (A317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168948	NM_005720.4(ARPC1B):c.1011C>A (p.Gly337=)	ARPC1B	Single nucleotide variant (synonymous variant)	ARPC1B-related condition +1 more	GLikely benign
Select item 1053497	NM_005720.4(ARPC1B):c.1049T>G (p.Met350Arg)	ARPC1B (M350R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490934	NM_005720.4(ARPC1B):c.1080+4A>C	ARPC1B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1630247	NM_005720.4(ARPC1B):c.1091C>T (p.Ser364Leu)	ARPC1B (S364L)	Single nucleotide variant (missense variant)	ARPC1B-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3026993	NM_005720.4(ARPC1B):c.1110G>C (p.Lys370Asn)	ARPC1B (K370N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance