64094[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	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 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 152717	GRCh38/hg38 6q27(chr6:167933399-168918688)x3	AFDN, DACT2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 151610	GRCh38/hg38 6q27(chr6:168218779-168460174)x3	DACT2, LOC101929420 +5 more	Copy number gain	See cases	GBenign
Select item 145698	GRCh38/hg38 6q27(chr6:168218779-168595883)x3	DACT2, LOC101929420 +6 more	Copy number gain	See cases	GBenign
Select item 1273584	NM_001166412.2(SMOC2):c.-104C>T	SMOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1233812	NM_001166412.2(SMOC2):c.-37A>G	SMOC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2871699	NM_001166412.2(SMOC2):c.13C>T (p.Gln5Ter)	SMOC2 (Q5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2701364	NM_001166412.2(SMOC2):c.57G>T (p.Val19=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075464	NM_001166412.2(SMOC2):c.60C>G (p.Pro20=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257770	NM_001166412.2(SMOC2):c.63T>G (p.Ala21=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 30657	NM_001166412.2(SMOC2):c.84+1G>T	SMOC2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1280242	NM_001166412.2(SMOC2):c.85-152C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2394293	NM_001166412.2(SMOC2):c.136G>A (p.Gly46Ser)	SMOC2 (G46S)	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 3321006	NM_001166412.2(SMOC2):c.152C>T (p.Pro51Leu)	SMOC2 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3166619	NM_001166412.2(SMOC2):c.203G>A (p.Arg68His)	SMOC2 (R68H)	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 2512245	NM_001166412.2(SMOC2):c.242G>A (p.Arg81Gln)	SMOC2 (R81Q)	Single nucleotide variant (missense variant)	not specified	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 3321008	NM_001166412.2(SMOC2):c.254A>C (p.Lys85Thr)	SMOC2 (K85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1258153	NM_001166412.2(SMOC2):c.256+254T>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 1276099	NM_001166412.2(SMOC2):c.257-241G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432363	NM_001166412.2(SMOC2):c.269G>A (p.Cys90Tyr)	SMOC2 (C90Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2044156	NM_001166412.2(SMOC2):c.285G>A (p.Lys95=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3166620	NM_001166412.2(SMOC2):c.302C>T (p.Ala101Val)	SMOC2 (A101V)	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 2532571	NM_001166412.2(SMOC2):c.328A>T (p.Ile110Phe)	SMOC2 (I110F)	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 1944815	NM_001166412.2(SMOC2):c.348C>T (p.Asp116=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796291	NM_001166412.2(SMOC2):c.357C>T (p.Tyr119=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975245	NM_001166412.2(SMOC2):c.363+7G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220598	NM_001166412.2(SMOC2):c.363+81G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253369	NM_001166412.2(SMOC2):c.363+317T>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242901	NM_001166412.2(SMOC2):c.364-83G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286765	NM_001166412.2(SMOC2):c.364-57C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022526	NM_001166412.2(SMOC2):c.364-11C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1027789	NM_001166412.2(SMOC2):c.400G>A (p.Val134Ile)	SMOC2 (V134I)	Single nucleotide variant (missense variant)	Dentin dysplasia type I	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 2182073	NM_001166412.2(SMOC2):c.435C>T (p.Ala145=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3321003	NM_001166412.2(SMOC2):c.454C>T (p.Arg152Trp)	SMOC2 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1275595	NM_001166412.2(SMOC2):c.463+112C>T	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
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 1986614	NM_001166412.2(SMOC2):c.511+7A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282166	NM_001166412.2(SMOC2):c.512-261T>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
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 2728191	NM_001166412.2(SMOC2):c.512-14C>T	SMOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2054518	NM_001166412.2(SMOC2):c.544C>G (p.Pro182Ala)	SMOC2 (P182A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1257052	NM_001166412.2(SMOC2):c.562+107G>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231256	NM_001166412.2(SMOC2):c.562+206G>A	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244759	NM_001166412.2(SMOC2):c.562+237C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287798	NM_001166412.2(SMOC2):c.562+238G>C	SMOC2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 709829	NM_001166412.2(SMOC2):c.635C>T (p.Ser212Leu)	SMOC2 (S212L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 2956363	NM_001166412.2(SMOC2):c.638-17CTT[2]	SMOC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 225685	NM_001166412.2(SMOC2):c.648T>A (p.Cys216Ter)	SMOC2 (C227* +1 more)	Single nucleotide variant (nonsense)	Dentin dysplasia, type I, with extreme microdontia and misshapen teeth	GPathogenic
Select item 2178281	NM_001166412.2(SMOC2):c.729C>T (p.Gly243=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2033228	NM_001166412.2(SMOC2):c.810C>T (p.Pro270=)	SMOC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2058571	NM_001166412.2(SMOC2):c.824+3A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2197970	NM_001166412.2(SMOC2):c.824+4A>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987448	NM_001166412.2(SMOC2):c.824+26dup	SMOC2	Duplication (intron variant)	not provided	GBenign
Select item 1338958	NM_001166412.2(SMOC2):c.825-9del	SMOC2	Deletion (intron variant)	not provided	GBenign
Select item 2716324	NM_001166412.2(SMOC2):c.825-6C>G	SMOC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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