"Ambry Genetics"[submitter] AND "ASAP1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130034	NM_018482.4(ASAP1):c.3371T>C (p.Val1124Ala)	ASAP1 (V1124A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611267	NM_018482.4(ASAP1):c.3325A>G (p.Ile1109Val)	ASAP1 (I1102V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558423	NM_018482.4(ASAP1):c.3191C>T (p.Thr1064Met)	ASAP1 (T1007M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369753	NM_018482.4(ASAP1):c.3136G>A (p.Asp1046Asn)	ASAP1 (D989N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314445	NM_018482.4(ASAP1):c.3104C>G (p.Ala1035Gly)	ASAP1 (A1028G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130033	NM_018482.4(ASAP1):c.3068C>T (p.Pro1023Leu)	ASAP1 (P966L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130032	NM_018482.4(ASAP1):c.2867C>T (p.Pro956Leu)	ASAP1 (P949L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474249	NM_018482.4(ASAP1):c.2619T>G (p.Phe873Leu)	ASAP1 (F819L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533321	NM_018482.4(ASAP1):c.2452G>A (p.Gly818Ser)	ASAP1 (G818S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622483	NM_018482.4(ASAP1):c.2431C>A (p.Leu811Ile)	ASAP1 (L804I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130031	NM_018482.4(ASAP1):c.2429C>T (p.Pro810Leu)	ASAP1 (P803L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130030	NM_018482.4(ASAP1):c.2363C>T (p.Thr788Met)	ASAP1 (T791M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371781	NM_018482.4(ASAP1):c.2362A>G (p.Thr788Ala)	ASAP1 (T788A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2509458	NM_018482.4(ASAP1):c.2249A>G (p.Lys750Arg)	ASAP1 (K750R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600650	NM_018482.4(ASAP1):c.2237C>T (p.Ser746Phe)	ASAP1 (S746F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130029	NM_018482.4(ASAP1):c.2048C>G (p.Thr683Ser)	ASAP1 (T683S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402395	NM_018482.4(ASAP1):c.1858G>A (p.Val620Ile)	ASAP1 (V620I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344556	NM_018482.4(ASAP1):c.1825G>A (p.Val609Ile)	ASAP1 (V602I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468529	NM_018482.4(ASAP1):c.1748A>G (p.Tyr583Cys)	ASAP1 (Y576C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545001	NM_018482.4(ASAP1):c.1741C>A (p.Gln581Lys)	ASAP1 (Q574K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614801	NM_018482.4(ASAP1):c.1649A>G (p.His550Arg)	ASAP1 (H543R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557753	NM_018482.4(ASAP1):c.1298G>A (p.Ser433Asn)	ASAP1 (S433N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130028	NM_018482.4(ASAP1):c.1295A>G (p.Asn432Ser)	ASAP1 (N432S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240957	NM_018482.4(ASAP1):c.1055G>A (p.Gly352Glu)	ASAP1 (G345E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600593	NM_018482.4(ASAP1):c.635G>A (p.Arg212His)	ASAP1 (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481470	NM_018482.4(ASAP1):c.626A>G (p.Lys209Arg)	ASAP1 (K209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620881	NM_018482.4(ASAP1):c.400A>T (p.Asn134Tyr)	ASAP1 (N134Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27