ClinVar for Gene (Select 6693) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338430	GRCh37/hg19 16p11.2(chr16:29624260-29874118)x3	ALDOA, C16orf54 +9 more	Copy number gain	HNSHA due to aldolase A deficiency	GLikely pathogenic
Select item 3322292	NM_003123.6(SPN):c.306G>A (p.Met102Ile)	SPN (M102I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322291	NM_003123.6(SPN):c.392C>T (p.Thr131Ile)	SPN (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322290	NM_003123.6(SPN):c.1022C>A (p.Thr341Lys)	SPN (T341K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322289	NM_003123.6(SPN):c.965C>A (p.Ser322Tyr)	SPN (S322Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322288	NM_003123.6(SPN):c.1184G>C (p.Gly395Ala)	SPN (G395A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322287	NM_003123.6(SPN):c.1022C>T (p.Thr341Met)	SPN (T341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322286	NM_003123.6(SPN):c.758G>T (p.Arg253Leu)	SPN (R253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322285	NM_003123.6(SPN):c.990C>G (p.Phe330Leu)	SPN (F330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3169228	NM_003123.6(SPN):c.652G>A (p.Ala218Thr)	SPN (A218T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169227	NM_003123.6(SPN):c.626C>T (p.Thr209Ile)	SPN (T209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169226	NM_003123.6(SPN):c.1156G>A (p.Ala386Thr)	SPN (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169225	NM_003123.6(SPN):c.1090G>T (p.Gly364Trp)	SPN (G364W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148938	GRCh37/hg19 16p11.2(chr16:29580021-30190029)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 3148921	GRCh37/hg19 16p11.2(chr16:29591327-30190029)x1	ALDOA, ASPHD1 +24 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 3059616	NM_003123.6(SPN):c.879C>T (p.Gly293=)	SPN	Single nucleotide variant (synonymous variant)	SPN-related disorder	GBenign
Select item 3047529	NM_003123.6(SPN):c.474G>A (p.Leu158=)	SPN	Single nucleotide variant (synonymous variant)	SPN-related disorder	GLikely benign
Select item 3047061	NM_003123.6(SPN):c.27G>T (p.Gly9=)	SPN	Single nucleotide variant (synonymous variant)	SPN-related disorder	GLikely benign
Select item 3044966	NM_003123.6(SPN):c.915G>C (p.Gly305=)	SPN	Single nucleotide variant (synonymous variant)	SPN-related disorder	GLikely benign
Select item 3042826	NM_003123.6(SPN):c.387C>G (p.Thr129=)	SPN	Single nucleotide variant (synonymous variant)	SPN-related disorder	GLikely benign
Select item 3037910	NM_003123.6(SPN):c.675C>G (p.Ser225Arg)	SPN (S225R)	Single nucleotide variant (missense variant)	SPN-related disorder	GLikely benign
Select item 3024604	GRCh37/hg19 16p11.2(chr16:29495010-30200397)x1	QPRT, SEZ6L2 +25 more	Copy number loss	not provided	GPathogenic
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685572	GRCh37/hg19 16p11.2(chr16:29517698-30191848)x1	ALDOA, ASPHD1 +24 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685569	GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	ASPHD1, BOLA2 +14 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684804	GRCh37/hg19 16p11.2(chr16:29654589-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ASPHD1, ALDOA +28 more	Copy number loss	not provided	GPathogenic
Select item 2671579	Single allele	ALDOA, ASPHD1 +25 more	Duplication	not provided	GPathogenic
Select item 2623554	NM_003123.6(SPN):c.42C>A (p.Ser14Arg)	SPN (S14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605929	NM_003123.6(SPN):c.1043G>T (p.Arg348Ile)	SPN (R348I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592243	NM_003123.6(SPN):c.880G>A (p.Gly294Ser)	SPN (G294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582950	GRCh37/hg19 16p11.2(chr16:29674568-30199897)x3	ALDOA, ASPHD1 +25 more	Copy number gain	not provided	GPathogenic
Select item 2580337	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580331	GRCh37/hg19 16p11.2(chr16:29517464-30199839)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580320	GRCh37/hg19 16p11.2(chr16:29517464-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic
Select item 2499634	GRCh38/hg38 16p11.2(chr16:29653297-30181026)	ALDOA, ASPHD1 +90 more	Copy number loss	See cases	GPathogenic
Select item 2493110	NM_003123.6(SPN):c.1184G>A (p.Gly395Glu)	SPN (G395E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475288	NM_003123.6(SPN):c.193C>G (p.Leu65Val)	SPN (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473341	NM_003123.6(SPN):c.925G>T (p.Val309Phe)	SPN (V309F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472585	NM_003123.6(SPN):c.322G>A (p.Glu108Lys)	SPN (E108K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466898	NM_003123.6(SPN):c.482C>T (p.Ser161Phe)	SPN (S161F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463770	NM_003123.6(SPN):c.424A>G (p.Thr142Ala)	SPN (T142A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462858	NM_003123.6(SPN):c.257G>A (p.Gly86Asp)	SPN (G86D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391403	NM_003123.6(SPN):c.1025T>G (p.Leu342Arg)	SPN (L342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391301	NM_003123.6(SPN):c.1181G>C (p.Gly394Ala)	SPN (G394A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362369	NM_003123.6(SPN):c.458C>T (p.Thr153Met)	SPN (T153M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2359246	NM_003123.6(SPN):c.851G>A (p.Arg284Gln)	SPN (R284Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346557	NM_003123.6(SPN):c.666G>C (p.Gln222His)	SPN (Q222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342077	NM_003123.6(SPN):c.1003G>T (p.Gly335Trp)	SPN (G335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306713	NM_003123.6(SPN):c.892G>C (p.Gly298Arg)	SPN (G298R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293826	NM_003123.6(SPN):c.928C>G (p.Pro310Ala)	SPN (P310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239132	NM_003123.6(SPN):c.692T>C (p.Met231Thr)	SPN (M231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810304	GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3	MVP, YPEL3 +27 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1810288	GRCh37/hg19 16p11.2(chr16:29651706-30193525)x1	C16orf92, CDIPT +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	Gnot provided
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808476	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 1808472	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1808204	GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	YPEL3, ZG16 +31 more	Copy number loss	not provided	GPathogenic
Select item 1807842	GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1706497	GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1	HIRIP3, INO80E +27 more	Copy number loss	See cases	GPathogenic
Select item 1704350	GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1	ALDOA, ASPHD1 +24 more	Copy number loss	Dysmorphic features	GUncertain significance
Select item 1703603	GRCh37/hg19 16p11.2(chr16:29591078-30177240)	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703600	GRCh37/hg19 16p11.2(chr16:29628661-30306955)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1703578	GRCh37/hg19 16p11.2(chr16:29567295-30178406)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703556	GRCh37/hg19 16p11.2(chr16:29580020-30177916)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703545	GRCh37/hg19 16p11.2(chr16:29580020-30177999)	ALDOA, ASPHD1 +24 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1703541	GRCh37/hg19 16p11.2(chr16:29567295-30177916)	MAPK3, MAZ +24 more	Copy number loss	Mayer Rokitansky Kuster Hauser syndrome type 1	GPathogenic
Select item 1703233	Single allele	LOC130058781, MAZ +92 more	Deletion	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1694809	GRCh37/hg19 16p11.2(chr16:29674300-30200008)x1	CDIPT, CORO1A +25 more	Copy number loss	not provided	GPathogenic
Select item 1684661	NC_000016.10:g.29640592_30187862del	C16orf54, C16orf92 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1684552	GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1	GDPD3, KCTD13 +25 more	Copy number loss	See cases	GPathogenic
Select item 1679413	NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	LOC130058767, LOC130058768 +119 more	Deletion	See cases	GLikely pathogenic, low penetrance
Select item 1339950	GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339949	GRCh37/hg19 16p11.2(chr16:29591078-30177240)x3	ALDOA, ASPHD1 +24 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1339776	GRCh37/hg19 16p11.2(chr16:29678569-30198121)x1	ALDOA, ASPHD1 +25 more	Copy number loss	not provided	Gnot provided
Select item 1330307	GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3	PPP4C, PRRT2 +25 more	Copy number gain	16p11.2 duplication syndrome	GPathogenic
Select item 1330208	GRCh37/hg19 16p11.2(chr16:29675000-30200335)x3	ALDOA, ASPHD1 +25 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330191	GRCh37/hg19 16p11.2(chr16:29675000-30200058)x3	ALDOA, ASPHD1 +25 more	Copy number gain	16p11.2p12.2 microduplication syndrome	GPathogenic
Select item 1330182	GRCh37/hg19 16p11.2(chr16:29511270-30199844)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330167	GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	ALDOA, ASPHD1 +31 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330166	GRCh37/hg19 16p11.2(chr16:29511270-30200335)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330158	GRCh37/hg19 16p11.2(chr16:29675000-30199844)x1	ALDOA, ASPHD1 +25 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GPathogenic

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