ClinVar for Gene (Select 6695) - ClinVar

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

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	ANKHD1, ANKHD1-EIF4EBP3 +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	HARS1, HARS2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63