SAV1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 3157941	NM_021818.4(SAV1):c.1145A>T (p.Asn382Ile)	SAV1 (N382I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594902	NM_021818.4(SAV1):c.870G>T (p.Gln290His)	SAV1 (Q290H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157944	NM_021818.4(SAV1):c.785A>C (p.Tyr262Ser)	SAV1 (Y262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157943	NM_021818.4(SAV1):c.739G>A (p.Glu247Lys)	SAV1 (E247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316213	NM_021818.4(SAV1):c.622G>A (p.Asp208Asn)	SAV1 (D208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471875	NM_021818.4(SAV1):c.607C>T (p.Pro203Ser)	SAV1 (P203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981817	NM_021818.4(SAV1):c.604C>T (p.Pro202Ser)	SAV1 (P202S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3157942	NM_021818.4(SAV1):c.582T>G (p.His194Gln)	SAV1 (H194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510455	NM_021818.4(SAV1):c.574A>G (p.Thr192Ala)	SAV1 (T192A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492524	NM_021818.4(SAV1):c.500A>G (p.Gln167Arg)	SAV1 (Q167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316212	NM_021818.4(SAV1):c.472T>C (p.Tyr158His)	SAV1 (Y158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229566	NM_021818.4(SAV1):c.469A>G (p.Arg157Gly)	SAV1 (R157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219012	NM_021818.4(SAV1):c.455C>T (p.Ala152Val)	SAV1 (A152V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358131	NM_021818.4(SAV1):c.451C>T (p.Arg151Cys)	SAV1 (R151C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219113	NM_021818.4(SAV1):c.437G>A (p.Arg146Gln)	SAV1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508076	NM_021818.4(SAV1):c.436C>T (p.Arg146Trp)	SAV1 (R146W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316211	NM_021818.4(SAV1):c.371T>C (p.Val124Ala)	SAV1 (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316210	NM_021818.4(SAV1):c.335C>T (p.Ser112Phe)	SAV1 (S112F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284604	NM_021818.4(SAV1):c.232A>G (p.Ile78Val)	SAV1 (I78V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489600	NM_021818.4(SAV1):c.170C>T (p.Pro57Leu)	SAV1 (P57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157940	NM_021818.4(SAV1):c.101T>G (p.Met34Arg)	SAV1 (M34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315565	NM_021818.4(SAV1):c.101T>C (p.Met34Thr)	SAV1 (M34T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338470	GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4	ATL1, MAP4K5 +1 more	Copy number gain	Neuropathy, hereditary sensory, type 1D	GLikely pathogenic
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 1340926	GRCh37/hg19 14q22.1(chr14:51052117-51131803)x1	ATL1, SAV1	Copy number loss	not provided	GUncertain significance
Select item 815655	GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3	NEMF, SAV1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 687182	GRCh37/hg19 14q22.1(chr14:51002866-51116512)x3	ATL1, SAV1	Copy number gain	not provided	GUncertain significance
Select item 685051	GRCh37/hg19 14q22.1(chr14:51117860-51252419)x1	NIN, SAV1	Copy number loss	not provided	GUncertain significance
Select item 564127	GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3	TRIM9, SAV1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394919	GRCh37/hg19 14q22.1(chr14:51088592-51188166)x3	ATL1, NIN +1 more	Copy number gain	See cases	GUncertain significance

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Items: 40