"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PHACTR1"[g - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656233	NM_030948.6(PHACTR1):c.201C>T (p.Ser67=)	PHACTR1	Single nucleotide variant (synonymous variant)	PHACTR1-related condition +1 more	GLikely benign
Select item 1879646	NM_030948.6(PHACTR1):c.251-119685G>A	PHACTR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2656234	NM_030948.6(PHACTR1):c.251-119552C>T	PHACTR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2571242	NM_030948.6(PHACTR1):c.251-39359G>A	PHACTR1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571243	NM_030948.6(PHACTR1):c.251-39358C>A	PHACTR1 (L41M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2656235	NM_030948.6(PHACTR1):c.251-39335G>T	PHACTR1 (E48D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1701496	NM_030948.6(PHACTR1):c.251-39259A>G	PHACTR1 (S74G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676009	NM_030948.6(PHACTR1):c.297C>T (p.Val99=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3026638	NM_030948.6(PHACTR1):c.490G>A (p.Asp164Asn)	PHACTR1 (D164N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656236	NM_030948.6(PHACTR1):c.717G>T (p.Pro239=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2583034	NM_030948.6(PHACTR1):c.750C>T (p.Pro250=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695148	NM_030948.6(PHACTR1):c.829A>G (p.Thr277Ala)	PHACTR1 (T185A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656237	NM_030948.6(PHACTR1):c.975G>A (p.Gln325=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1299016	NM_030948.6(PHACTR1):c.1095G>T (p.Val365=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175737	NM_030948.6(PHACTR1):c.1101T>G (p.Thr367=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656238	NM_030948.6(PHACTR1):c.1155C>T (p.Tyr385=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656239	NM_030948.6(PHACTR1):c.1212C>T (p.Asp404=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656240	NM_030948.6(PHACTR1):c.1335G>A (p.Arg445=)	PHACTR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656241	NM_030948.6(PHACTR1):c.1392-4G>A	PHACTR1, TBC1D7-LOC100130357	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1695149	NM_030948.6(PHACTR1):c.1510-2265_1510-2264del	LOC100130357, PHACTR1 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 2656242	NM_030948.6(PHACTR1):c.1636A>T (p.Thr546Ser)	LOC100130357, PHACTR1 +1 more (T454S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024709	NM_030948.6(PHACTR1):c.1727+24dup	LOC100130357, PHACTR1 +1 more (L493fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign

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Items: 22