ClinVar for Gene (Select 6695) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322327	NM_004598.4(SPOCK1):c.1258G>A (p.Val420Met)	SPOCK1 (V420M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322326	NM_004598.4(SPOCK1):c.229C>G (p.Gln77Glu)	SPOCK1 (Q77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322325	NM_004598.4(SPOCK1):c.35C>T (p.Ala12Val)	SPOCK1 (A12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169277	NM_004598.4(SPOCK1):c.847C>A (p.Pro283Thr)	SPOCK1 (P283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169276	NM_004598.4(SPOCK1):c.71T>C (p.Leu24Pro)	SPOCK1 (L24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169275	NM_004598.4(SPOCK1):c.667A>G (p.Arg223Gly)	SPOCK1 (R223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169274	NM_004598.4(SPOCK1):c.487T>C (p.Phe163Leu)	SPOCK1 (F163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169273	NM_004598.4(SPOCK1):c.428A>G (p.Gln143Arg)	SPOCK1 (Q143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062854	GRCh37/hg19 5q31.2(chr5:136234222-136461621)x3	SPOCK1	Copy number gain	not specified	GUncertain significance
Select item 3052764	NM_004598.4(SPOCK1):c.816C>A (p.Ile272=)	SPOCK1	Single nucleotide variant (synonymous variant)	SPOCK1-related disorder	GLikely benign
Select item 3046660	NM_004598.4(SPOCK1):c.328C>A (p.Arg110Ser)	SPOCK1 (R110S)	Single nucleotide variant (missense variant)	SPOCK1-related disorder	GLikely benign
Select item 3039584	NM_004598.4(SPOCK1):c.393G>A (p.Ser131=)	SPOCK1	Single nucleotide variant (synonymous variant)	SPOCK1-related disorder	GLikely benign
Select item 2655713	NM_004598.4(SPOCK1):c.105C>T (p.His35=)	SPOCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623859	NM_004598.4(SPOCK1):c.109A>G (p.Asn37Asp)	SPOCK1 (N37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610605	NM_004598.4(SPOCK1):c.721A>G (p.Ile241Val)	SPOCK1 (I241V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605400	NM_004598.4(SPOCK1):c.508A>G (p.Lys170Glu)	SPOCK1 (K170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600447	NM_004598.4(SPOCK1):c.610C>T (p.Arg204Trp)	SPOCK1 (R204W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589196	NM_004598.4(SPOCK1):c.421G>A (p.Val141Met)	SPOCK1 (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560204	NM_004598.4(SPOCK1):c.832G>A (p.Glu278Lys)	SPOCK1 (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536186	NM_004598.4(SPOCK1):c.392C>G (p.Ser131Trp)	SPOCK1 (S131W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528511	NM_004598.4(SPOCK1):c.784C>G (p.Leu262Val)	SPOCK1 (L262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528427	NM_004598.4(SPOCK1):c.398T>G (p.Leu133Trp)	SPOCK1 (L133W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528313	NM_004598.4(SPOCK1):c.638G>T (p.Trp213Leu)	SPOCK1 (W213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491777	NM_004598.4(SPOCK1):c.413C>A (p.Pro138His)	SPOCK1 (P138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410298	NM_004598.4(SPOCK1):c.419C>T (p.Pro140Leu)	SPOCK1 (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402213	NM_004598.4(SPOCK1):c.106G>C (p.Gly36Arg)	SPOCK1 (G36R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399491	NM_004598.4(SPOCK1):c.204C>G (p.Asn68Lys)	SPOCK1 (N68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346157	NM_004598.4(SPOCK1):c.517G>A (p.Ala173Thr)	SPOCK1 (A173T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314242	NM_004598.4(SPOCK1):c.565C>G (p.Pro189Ala)	SPOCK1 (P189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299090	NM_004598.4(SPOCK1):c.392C>T (p.Ser131Leu)	SPOCK1 (S131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285464	NM_004598.4(SPOCK1):c.107G>A (p.Gly36Asp)	SPOCK1 (G36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284205	NM_004598.4(SPOCK1):c.867C>G (p.Asp289Glu)	SPOCK1 (D289E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269260	NM_004598.4(SPOCK1):c.754A>G (p.Met252Val)	SPOCK1 (M252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257090	NM_004598.4(SPOCK1):c.1241G>C (p.Arg414Thr)	SPOCK1 (R414T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244996	NM_004598.4(SPOCK1):c.523C>A (p.Leu175Ile)	SPOCK1 (L175I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244994	NM_004598.4(SPOCK1):c.328C>T (p.Arg110Cys)	SPOCK1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807568	GRCh37/hg19 5q31.2(chr5:136409275-136960997)x1	KLHL3, SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	IGIP, IK +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 814748	GRCh37/hg19 5q31.2(chr5:136414500-136770840)x1	SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 813649	NM_004598.4(SPOCK1):c.313G>A (p.Ala105Thr)	SPOCK1 (A105T)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 688317	GRCh37/hg19 5q31.2(chr5:136810103-136982225)x3	KLHL3, SPOCK1	Copy number gain	not provided	GUncertain significance
Select item 687875	GRCh37/hg19 5q31.2(chr5:136543033-136615940)x1	SPOCK1	Copy number loss	not provided	GUncertain significance
Select item 635952	NC_000005.9:g.136320037_136380192dup	SPOCK1	Duplication	Internal malformations	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 218643	NM_004598.4(SPOCK1):c.110A>G (p.Asn37Ser)	SPOCK1 (N37S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 152435	GRCh38/hg38 5q31.2(chr5:137051283-137117353)x3	SPOCK1	Copy number gain	See cases	GLikely benign
Select item 151649	GRCh38/hg38 5q31.2(chr5:137051283-137088694)x3	SPOCK1	Copy number gain	See cases	GUncertain significance
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147430	GRCh38/hg38 5q31.2(chr5:137117353-137434323)x1	LOC105379192, LOC126807522 +3 more	Copy number loss	See cases	GUncertain significance
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 127078	NM_004598.4(SPOCK1):c.239A>T (p.Asp80Val)	SPOCK1 (D80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 63