6730[geneid] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 3170026	NM_014230.4(SRP68):c.1849G>A (p.Gly617Arg)	SRP68 (G579R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260497	NM_014230.4(SRP68):c.1766T>C (p.Leu589Ser)	SRP68 (L551S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170025	NM_014230.4(SRP68):c.1669C>T (p.Arg557Trp)	SRP68 (R519W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407204	NM_014230.4(SRP68):c.1615C>T (p.His539Tyr)	SRP68 (H501Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411341	NM_014230.4(SRP68):c.1504G>A (p.Ala502Thr)	SRP68 (A502T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254994	NM_014230.4(SRP68):c.1481A>T (p.Asn494Ile)	SRP68 (N456I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223901	NM_014230.4(SRP68):c.1262C>T (p.Pro421Leu)	SRP68 (P82L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170021	NM_014230.4(SRP68):c.1093A>G (p.Ile365Val)	SRP68 (I327V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235329	NM_014230.4(SRP68):c.961G>A (p.Glu321Lys)	SRP68 (E283K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289958	NM_014230.4(SRP68):c.920T>C (p.Ile307Thr)	SRP68 (I269T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246513	NM_014230.4(SRP68):c.898G>C (p.Gly300Arg)	SRP68 (G300R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490166	NM_014230.4(SRP68):c.606A>C (p.Gln202His)	SRP68 (Q202H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276111	NM_014230.4(SRP68):c.325A>G (p.Thr109Ala)	SRP68 (T109A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298198	NM_014230.4(SRP68):c.302A>G (p.Lys101Arg)	SRP68 (K101R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248420	NM_014230.4(SRP68):c.263C>G (p.Ser88Cys)	SRP68 (S88C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300341	NM_014230.4(SRP68):c.227G>A (p.Arg76Gln)	SRP68 (R76Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582672	NC_000017.11:g.(76070445_76072307)_(76072518_?)del	GALR2, SRP68	Deletion	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic
Select item 2582671	NM_014230.4(SRP68):c.184+2T>C	GALR2, SRP68	Single nucleotide variant (splice donor variant)	Neutropenia, severe congenital, 10, autosomal recessive	GPathogenic
Select item 3170024	NM_014230.4(SRP68):c.161T>C (p.Phe54Ser)	GALR2, SRP68 (F54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170023	NM_014230.4(SRP68):c.160T>A (p.Phe54Ile)	GALR2, SRP68 (F54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170022	NM_014230.4(SRP68):c.127C>G (p.Arg43Gly)	GALR2, SRP68 (R43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334736	NM_014230.4(SRP68):c.79A>G (p.Ser27Gly)	GALR2, SRP68 (S27G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605880	NM_014230.4(SRP68):c.77G>T (p.Gly26Val)	GALR2, SRP68 (G26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544510	NM_014230.4(SRP68):c.74G>T (p.Gly25Val)	GALR2, SRP68 (G25V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684856	GRCh37/hg19 17q25.1(chr17:73264158-74039659)x3	ACOX1, CASKIN2 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564473	GRCh37/hg19 17q25.1(chr17:73414856-74037715)x3	CASKIN2, CDK3 +21 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253996	GRCh37/hg19 17q25.1(chr17:73870412-74160099)x3	SRP68, TRIM65 +12 more	Copy number gain	See cases	GUncertain significance

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Items: 42