ClinVar for Gene (Select 64094) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321008	NM_001166412.2(SMOC2):c.254A>C (p.Lys85Thr)	SMOC2 (K85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321007	NM_001166412.2(SMOC2):c.1060T>G (p.Trp354Gly)	SMOC2 (W365G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321006	NM_001166412.2(SMOC2):c.152C>T (p.Pro51Leu)	SMOC2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321005	NM_001166412.2(SMOC2):c.1135C>T (p.Leu379Phe)	SMOC2 (L379F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321004	NM_001166412.2(SMOC2):c.296A>G (p.Glu99Gly)	SMOC2 (E99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321003	NM_001166412.2(SMOC2):c.454C>T (p.Arg152Trp)	SMOC2 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321001	NM_001166412.2(SMOC2):c.611G>A (p.Arg204Gln)	SMOC2 (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321000	NM_001166412.2(SMOC2):c.1048C>T (p.Arg350Trp)	SMOC2 (R350W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166630	NM_001166412.2(SMOC2):c.944G>A (p.Ser315Asn)	SMOC2 (S315N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166629	NM_001166412.2(SMOC2):c.928C>G (p.His310Asp)	SMOC2 (H310D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166628	NM_001166412.2(SMOC2):c.914C>T (p.Pro305Leu)	SMOC2 (P316L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166627	NM_001166412.2(SMOC2):c.878G>A (p.Arg293Gln)	SMOC2 (R304Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166626	NM_001166412.2(SMOC2):c.829G>C (p.Glu277Gln)	SMOC2 (E288Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166625	NM_001166412.2(SMOC2):c.811G>C (p.Gly271Arg)	SMOC2 (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166624	NM_001166412.2(SMOC2):c.605A>G (p.Lys202Arg)	SMOC2 (K202R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166623	NM_001166412.2(SMOC2):c.512-13G>A	SMOC2 (V178I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166622	NM_001166412.2(SMOC2):c.506A>G (p.Lys169Arg)	SMOC2 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166621	NM_001166412.2(SMOC2):c.412G>A (p.Gly138Arg)	SMOC2 (G138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166620	NM_001166412.2(SMOC2):c.302C>T (p.Ala101Val)	SMOC2 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166619	NM_001166412.2(SMOC2):c.203G>A (p.Arg68His)	SMOC2 (R68H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166618	NM_001166412.2(SMOC2):c.1303G>A (p.Glu435Lys)	SMOC2 (E435K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166617	NM_001166412.2(SMOC2):c.1199A>G (p.Asn400Ser)	SMOC2 (N400S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166616	NM_001166412.2(SMOC2):c.1001C>T (p.Ser334Leu)	SMOC2 (S334L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166615	NM_001166412.2(SMOC2):c.967G>A (p.Asp323Asn)	SMOC2 (D334N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3055570	NM_001166412.2(SMOC2):c.582T>A (p.Pro194=)	SMOC2	Single nucleotide variant (synonymous variant)	SMOC2-related disorder	GLikely benign
Select item 3045231	NM_001166412.2(SMOC2):c.1053G>A (p.Val351=)	SMOC2	Single nucleotide variant (synonymous variant)	SMOC2-related disorder	GLikely benign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 3022526	NM_001166412.2(SMOC2):c.364-11C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2975245	NM_001166412.2(SMOC2):c.363+7G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972869	NM_001166412.2(SMOC2):c.1286-9del	SMOC2	Deletion (intron variant)	not provided	GBenign
Select item 2966808	NM_001166412.2(SMOC2):c.1010+13C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956363	NM_001166412.2(SMOC2):c.638-17CTT[2]	SMOC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2871699	NM_001166412.2(SMOC2):c.13C>T (p.Gln5Ter)	SMOC2 (Q5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2728191	NM_001166412.2(SMOC2):c.512-14C>T	SMOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2716324	NM_001166412.2(SMOC2):c.825-6C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701364	NM_001166412.2(SMOC2):c.57G>T (p.Val19=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684467	GRCh37/hg19 6q27(chr6:168525571-168965276)x3	DACT2, SMOC2	Copy number gain	not provided	GUncertain significance
Select item 2684466	GRCh37/hg19 6q27(chr6:168212080-169034283)x3	AFDN, DACT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684465	GRCh37/hg19 6q27(chr6:168194615-169097953)x3	AFDN, DACT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2617842	NM_001166412.2(SMOC2):c.592A>G (p.Thr198Ala)	SMOC2 (T209A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613924	NM_001166412.2(SMOC2):c.341A>G (p.Asn114Ser)	SMOC2 (N114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612988	NM_001166412.2(SMOC2):c.994T>C (p.Ser332Pro)	SMOC2 (S332P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598413	NM_001166412.2(SMOC2):c.52C>G (p.Pro18Ala)	SMOC2 (P18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597759	NM_001166412.2(SMOC2):c.797G>A (p.Gly266Glu)	SMOC2 (G277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2563062	NM_001166412.2(SMOC2):c.865C>T (p.Pro289Ser)	SMOC2 (P289S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532571	NM_001166412.2(SMOC2):c.328A>T (p.Ile110Phe)	SMOC2 (I110F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522143	NM_001166412.2(SMOC2):c.77C>T (p.Ala26Val)	SMOC2 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518895	NM_001166412.2(SMOC2):c.304C>T (p.Arg102Trp)	SMOC2 (R102W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512245	NM_001166412.2(SMOC2):c.242G>A (p.Arg81Gln)	SMOC2 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455912	NM_001166412.2(SMOC2):c.140C>T (p.Ser47Leu)	SMOC2 (S47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394293	NM_001166412.2(SMOC2):c.136G>A (p.Gly46Ser)	SMOC2 (G46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312230	NM_001166412.2(SMOC2):c.1086C>G (p.Asn362Lys)	SMOC2 (N362K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270681	NM_001166412.2(SMOC2):c.832C>A (p.Gln278Lys)	SMOC2 (Q278K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263753	NM_001166412.2(SMOC2):c.233T>C (p.Ile78Thr)	SMOC2 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251599	NM_001166412.2(SMOC2):c.520G>A (p.Ala174Thr)	SMOC2 (A174T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243679	NM_001166412.2(SMOC2):c.1028C>T (p.Pro343Leu)	SMOC2 (P354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206397	NM_001166412.2(SMOC2):c.449C>T (p.Thr150Met)	SMOC2 (T150M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197970	NM_001166412.2(SMOC2):c.824+4A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2184418	NM_001166412.2(SMOC2):c.243A>G (p.Arg81=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182073	NM_001166412.2(SMOC2):c.435C>T (p.Ala145=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178281	NM_001166412.2(SMOC2):c.729C>T (p.Gly243=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139897	NM_001166412.2(SMOC2):c.512-30C>T	SMOC2 (S172F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2117754	NM_001166412.2(SMOC2):c.1265C>T (p.Ala422Val)	SMOC2 (A422V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2075464	NM_001166412.2(SMOC2):c.60C>G (p.Pro20=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2058571	NM_001166412.2(SMOC2):c.824+3A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056093	NM_001166412.2(SMOC2):c.134C>T (p.Ala45Val)	SMOC2 (A45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055707	NM_001166412.2(SMOC2):c.870C>T (p.Ala290=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2054518	NM_001166412.2(SMOC2):c.544C>G (p.Pro182Ala)	SMOC2 (P182A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2049423	NM_001166412.2(SMOC2):c.1242C>T (p.Gly414=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2044156	NM_001166412.2(SMOC2):c.285G>A (p.Lys95=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2033228	NM_001166412.2(SMOC2):c.810C>T (p.Pro270=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1989986	NM_001166412.2(SMOC2):c.1285+20C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987448	NM_001166412.2(SMOC2):c.824+26dup	SMOC2	Duplication (intron variant)	not provided	GBenign
Select item 1987207	NM_001166412.2(SMOC2):c.1286-9dup	SMOC2	Duplication (intron variant)	not provided	GBenign
Select item 1986614	NM_001166412.2(SMOC2):c.511+7A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944815	NM_001166412.2(SMOC2):c.348C>T (p.Asp116=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898882	NM_001166412.2(SMOC2):c.187C>T (p.Arg63Cys)	SMOC2 (R63C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807798	GRCh37/hg19 6q26-27(chr6:163181847-170919482)x1	AFDN, C6orf118 +32 more	Copy number loss	not provided	GPathogenic
Select item 1801454	NM_001166412.2(SMOC2):c.907+15386_907+15387insTGTAATTACTACCAGCGTGGAATAAAAACACC	SMOC2	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1711652	GRCh37/hg19 6q26-27(chr6:163836226-170893669)x1	AFDN, C6orf118 +31 more	Copy number loss	not provided	GPathogenic
Select item 1711095	GRCh37/hg19 6q27(chr6:168552894-170919482)x1	C6orf120, DACT2 +11 more	Copy number loss	See cases	GPathogenic
Select item 1706509	GRCh37/hg19 6q27(chr6:167770398-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703662	GRCh37/hg19 6q27(chr6:168643852-170919482)	C6orf120, DACT2 +11 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 1679408	NM_001166412.2(SMOC2):c.842G>A (p.Cys281Tyr)	SMOC2 (C281Y +1 more)	Single nucleotide variant (missense variant)	Dentin dysplasia type I	GUncertain significance
Select item 1527327	GRCh37/hg19 6q27(chr6:167317903-170919482)	AFDN, C6orf120 +21 more	Copy number loss	not specified	GPathogenic
Select item 1527323	GRCh37/hg19 6q26-27(chr6:163290087-170919482)	AFDN, C6orf118 +32 more	Copy number loss	not specified	GPathogenic
Select item 1527321	GRCh37/hg19 6q26-27(chr6:162381975-170919482)	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 1527320	GRCh37/hg19 6q26-27(chr6:162212864-170919482)	AFDN, C6orf118 +33 more	Copy number gain	not specified	GPathogenic
Select item 1527319	GRCh37/hg19 6q26-27(chr6:161047873-170919482)	AFDN, AGPAT4 +37 more	Copy number loss	not specified	GPathogenic
Select item 1341117	GRCh37/hg19 6q27(chr6:168827897-169436715)x3	SMOC2	Copy number gain	not provided	GUncertain significance
Select item 1340986	GRCh37/hg19 6q27(chr6:168939661-170919482)x1	C6orf120, DLL1 +10 more	Copy number loss	not provided	GPathogenic
Select item 1340090	GRCh37/hg19 6q27(chr6:168051206-170919482)x1	AFDN, C6orf120 +15 more	Copy number loss	not provided	GPathogenic
Select item 1339963	GRCh37/hg19 6q27(chr6:168706202-169202061)x3	DACT2, SMOC2	Copy number gain	not provided	GUncertain significance

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