"Ambry Genetics"[submitter] AND "ACP6"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289892	NM_016361.5(ACP6):c.1265T>C (p.Met422Thr)	ACP6 (M422T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2537350	NM_016361.5(ACP6):c.1206G>A (p.Met402Ile)	ACP6 (M402I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139059	NM_016361.5(ACP6):c.1138G>A (p.Gly380Arg)	ACP6 (G380R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488290	NM_016361.5(ACP6):c.1119T>A (p.Phe373Leu)	ACP6 (F373L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243973	NM_016361.5(ACP6):c.1113G>T (p.Glu371Asp)	ACP6 (E371D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495199	NM_016361.5(ACP6):c.967G>A (p.Asp323Asn)	ACP6 (D323N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3262499	NM_016361.5(ACP6):c.784C>T (p.His262Tyr)	ACP6 (H262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516475	NM_016361.5(ACP6):c.769G>A (p.Ala257Thr)	ACP6 (A257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320924	NM_016361.5(ACP6):c.766G>A (p.Val256Met)	ACP6 (V256M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2306138	NM_016361.5(ACP6):c.733G>A (p.Asp245Asn)	ACP6 (D245N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313179	NM_016361.5(ACP6):c.712A>G (p.Arg238Gly)	ACP6 (R238G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3139114	NM_016361.5(ACP6):c.673C>G (p.Gln225Glu)	ACP6 (Q225E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238828	NM_016361.5(ACP6):c.660G>C (p.Gln220His)	ACP6 (Q220H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241477	NM_016361.5(ACP6):c.635G>A (p.Arg212Lys)	ACP6 (R212K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139101	NM_016361.5(ACP6):c.607C>T (p.Pro203Ser)	ACP6 (P203S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139098	NM_016361.5(ACP6):c.599T>G (p.Val200Gly)	ACP6 (V200G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546967	NM_016361.5(ACP6):c.585A>C (p.Glu195Asp)	ACP6 (E195D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245658	NM_016361.5(ACP6):c.502C>T (p.Arg168Trp)	ACP6 (R168W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393762	NM_016361.5(ACP6):c.460T>A (p.Phe154Ile)	ACP6 (F154I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262488	NM_016361.5(ACP6):c.419G>A (p.Arg140Lys)	ACP6 (R140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267834	NM_016361.5(ACP6):c.409G>A (p.Glu137Lys)	ACP6 (E137K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139085	NM_016361.5(ACP6):c.358T>A (p.Phe120Ile)	ACP6 (F120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139082	NM_016361.5(ACP6):c.353G>A (p.Gly118Asp)	ACP6 (G118D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360126	NM_016361.5(ACP6):c.326A>G (p.Gln109Arg)	ACP6 (Q109R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393046	NM_016361.5(ACP6):c.301A>C (p.Lys101Gln)	ACP6 (K101Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318683	NM_016361.5(ACP6):c.182C>G (p.Ala61Gly)	ACP6 (A61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216013	NM_016361.5(ACP6):c.134G>A (p.Arg45His)	ACP6 (R45H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457509	NM_016361.5(ACP6):c.112G>A (p.Asp38Asn)	ACP6 (D38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382597	NM_016361.5(ACP6):c.22A>G (p.Met8Val)	ACP6 (M8V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 29