ClinVar for MedGen (Select 65920) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	RPL17, RPL17-C18orf32 (T113fs +3 more)	Deletion (frameshift variant)	Autism +9 more	GLikely pathogenic
Select item 523532	NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly)	INF2 (S1083G)	Single nucleotide variant (missense variant)	Birth length less than 3rd percentile +7 more	GUncertain significance
Select item 523361	NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)	ABCC8 (R598Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypoglycemia +11 more	GLikely pathogenic
Select item 374209	NM_001360.3(DHCR7):c.655T>C (p.Tyr219His)	DHCR7 (Y219H)	Single nucleotide variant (missense variant)	Elevated circulating 7-dehydrocholesterol concentration +3 more	GLikely pathogenic
Select item 374208	NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)	SMARCAL1 (C241*)	Single nucleotide variant (nonsense)	Decreased body weight +9 more	GPathogenic
Select item 374086	NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu)	DYNC1H1 (P2547L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +10 more	GConflicting classifications of pathogenicity
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Developmental regression +20 more	GPathogenic/Likely pathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic
Select item 267992	46;XY;t(5;18)(q33.3;q21.2)dn		Translocation	Small for gestational age	GUncertain significance
Select item 267979	46;XX;t(7;18)(p15;q21.1)		Translocation	Failure to thrive +2 more	GUncertain significance
Select item 221734	GRCh38/hg38 10q21.3(chr10:66318723-66354723)x1	CTNNA3, LOC132089819	Copy number loss	Premature ovarian failure	GBenign
Select item 157476	Single allele		Deletion	Small for gestational age +3 more	Gnot provided
Select item 157469	NC_000021.9:g.22647904_22670749del		Deletion	Small for gestational age	Gnot provided
Select item 157463	Single allele		Duplication	Small for gestational age	Gnot provided
Select item 157447	Single allele	PSG1, PSG11 +2 more	Deletion	Preeclampsia +1 more	Gnot provided
Select item 157436	Single allele		Deletion	Normal pregnancy +3 more	Gnot provided
Select item 157433	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157430	Single allele		Deletion	Preeclampsia +2 more	Gnot provided
Select item 157423	NM_152721.6(DOK6):c.67-22582_67-14452del	DOK6	Deletion (intron variant)	Normal pregnancy +3 more	Gnot provided
Select item 157418	NC_000018.10:g.66241835_66245461del		Deletion	Small for gestational age	Gnot provided
Select item 157413	NC_000018.10:g.33322025_33429787dup	CCDC178, LOC126862724	Duplication	Small for gestational age	Gnot provided
Select item 157407	Single allele	LOC129390953	Deletion	Small for gestational age	Gnot provided
Select item 157404	NC_000017.11:g.79371616_79400400dup	RBFOX3	Duplication	Small for gestational age	Gnot provided
Select item 157400	Single allele	LOC112533660, LOC121852945 +7 more	Deletion	Small for gestational age	Gnot provided
Select item 157387	NC_000017.11:g.46092442_46290846dup	ARL17B, KANSL1 +4 more	Duplication	Small for gestational age +2 more	Gnot provided
Select item 157363	NC_000016.10:g.31209548_31215370del	TRIM72	Deletion	Small for gestational age	Gnot provided
Select item 157360	Single allele	LINC02890, LOC130058647 +2 more	Deletion	Small for gestational age	Gnot provided
Select item 157352	NC_000015.10:g.85968459_85978252del		Deletion	Small for gestational age	Gnot provided
Select item 157344	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157342	Single allele	DPH6, LOC126862102	Deletion	Small for gestational age	Gnot provided
Select item 157328	NC_000015.9:g.23077857_23114374del	NIPA1	Deletion	Small for gestational age	Gnot provided
Select item 157320	NC_000014.9:g.90322590_90335706dup	LOC130056269, LOC130056270 +1 more	Duplication	Normal pregnancy +3 more	Gnot provided
Select item 157319	CM000676.1:g.90758891_90802050dup	LOC125078019, LOC126862020 +3 more	Duplication	Small for gestational age	Gnot provided
Select item 157317	Single allele	LINC02316, LINC02328	Deletion	Small for gestational age	Gnot provided
Select item 157313	Single allele	LOC132090284	Deletion	Small for gestational age	Gnot provided
Select item 157312	Single allele		Deletion	Preeclampsia +2 more	Gnot provided
Select item 157310	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157303	NM_001277864.1(DHRS4L1):c.-23423_-119+7390del	DHRS4L1, DHRS4L2 +2 more	Deletion	Large for gestational age +1 more	Gnot provided
Select item 157291	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157277	Single allele		Deletion	Normal pregnancy +3 more	Gnot provided
Select item 157275	Single allele		Deletion	Small for gestational age +1 more	Gnot provided
Select item 157263	CM000674.1:g.129226773_129266496dup	LOC126861684	Duplication	Small for gestational age	Gnot provided
Select item 157259	NM_001320322.1(TMTC2):c.84-78853_84-44447del	TMTC2	Deletion	Small for gestational age	Gnot provided
Select item 157252	NC_000012.12:g.52452168_52466201del		Deletion	Small for gestational age	Gnot provided
Select item 157251	NC_000012.12:g.31113353_31253973dup	LOC132090103	Duplication	Small for gestational age	Gnot provided
Select item 157246	NC_000012.12:g.31106438_31253973dup	LOC129390426, LOC132090103	Duplication	Small for gestational age	Gnot provided
Select item 157241	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157228	Single allele	GRIK4, LOC130006923	Deletion	Small for gestational age +1 more	Gnot provided
Select item 157223	NC_000011.10:g.104495361_104501590del		Deletion	Small for gestational age	Gnot provided
Select item 157221	NC_000011.10:g.99506676_99703958dup	CNTN5	Duplication	Small for gestational age	Gnot provided
Select item 157210	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157209	Single allele		Deletion	Large for gestational age +3 more	Gnot provided
Select item 157194	NC_000011.10:g.394005_419906dup	ANO9, LOC130005062 +8 more	Duplication	Small for gestational age	Gnot provided
Select item 157193	NC_000011.10:g.264391_396308dup	B4GALNT4, IFITM1 +27 more	Duplication	Small for gestational age	Gnot provided
Select item 157184	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157180	NM_001010848.3(NRG3):c.824-173790_824-159316del	NRG3	Deletion	Small for gestational age +1 more	Gnot provided
Select item 157167	Single allele	PCDH15	Deletion	Small for gestational age	Gnot provided
Select item 157159	NC_000010.11:g.44713993_44864035dup	LOC129390167, LOC129390168 +1 more	Duplication	Small for gestational age	Gnot provided
Select item 157153	NM_001282658.2(CCDC3):c.-1-19898_-1-16075del	CCDC3, LOC107275223	Deletion (intron variant)	Small for gestational age	Gnot provided
Select item 157147	NC_000009.12:g.83588331_83591428del	LOC124310574	Deletion	Normal pregnancy +3 more	Gnot provided
Select item 157145	Single allele	APBA1	Deletion	Small for gestational age	Gnot provided
Select item 157144	CM000671.1:g.30181745_30222006dup	LOC132089677	Duplication	Small for gestational age	Gnot provided
Select item 157141	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 157138	Single allele		Deletion	Small for gestational age +2 more	Gnot provided
Select item 157125	Single allele	SLC26A7	Deletion	Small for gestational age	Gnot provided
Select item 157124	Single allele	LOC129390023, LRRC69	Deletion	Small for gestational age	Gnot provided
Select item 157117	Single allele		Deletion	Small for gestational age +1 more	Gnot provided
Select item 157114	NC_000008.11:g.40327353_40332030del		Deletion	Small for gestational age +1 more	Gnot provided
Select item 157106	NM_001363059.2(MTUS1):c.2288-795_2449+390del	MTUS1	Deletion (splice acceptor variant +2 more)	Normal pregnancy +2 more	Gnot provided
Select item 157087	NC_000008.11:g.5741878_5747566del		Deletion	Normal pregnancy +3 more	Gnot provided
Select item 157079	NC_000007.14:g.147420362_147448484dup	CNTNAP2	Duplication	Small for gestational age	Gnot provided
Select item 157072	Single allele	MGAM	Deletion	Normal pregnancy +3 more	Gnot provided
Select item 157066	NC_000007.14:g.109815648_109837120dup		Duplication	Normal pregnancy +1 more	Gnot provided
Select item 157055	Single allele		Duplication	Small for gestational age	Gnot provided
Select item 157053	NC_000007.14:g.53130576_53138532del		Deletion	Small for gestational age	Gnot provided
Select item 157029	NC_000006.12:g.147348950_147402441dup	LOC129389678, LOC129389679 +1 more	Duplication	Small for gestational age	Gnot provided
Select item 157026	NM_001040214.2(NKAIN2):c.55-187304_55-129556dup	NKAIN2	Duplication	Small for gestational age	Gnot provided
Select item 157024	CM000668.1:g.112955668_112968423dup		Duplication	Small for gestational age	Gnot provided
Select item 157008	NM_002125.3(HLA-DRB5):c.-21004_-833del		Deletion	Small for gestational age	Gnot provided
Select item 157004	NR_001317.3(HCG4B):n.-1429_25883del	HCG4B	Deletion	Small for gestational age	Gnot provided
Select item 156996	NC_000005.10:g.156050857_156057228del	SGCD	Deletion (genic upstream transcript variant)	Small for gestational age +1 more	Gnot provided
Select item 156992	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 156991	Single allele		Deletion	Small for gestational age	Gnot provided
Select item 156990	Single allele	LINC01950	Deletion	Small for gestational age	Gnot provided
Select item 156980	Single allele		Deletion	Normal pregnancy +3 more	Gnot provided
Select item 156966	Single allele	LINC02112, TAS2R1	Deletion	Preeclampsia +2 more	Gnot provided
Select item 156955	Single allele		Deletion	Normal pregnancy +1 more	Gnot provided
Select item 156951	Single allele	LOC129993568, ZDHHC11	Deletion	Small for gestational age	Gnot provided
Select item 156942	NC_000004.12:g.161031076_161082472dup	LOC132089060, LOC132089061 +1 more	Duplication	Normal pregnancy +3 more	Gnot provided
Select item 156937	NC_000004.12:g.160140992_160149907del		Deletion	Small for gestational age +1 more	Gnot provided
Select item 156933	NC_000004.12:g.128853220_129006649dup	JADE1, LOC129993079 +3 more	Duplication	Small for gestational age	Gnot provided
Select item 156929	NM_024090.2(ELOVL6):c.-68192_89+40066dup	ELOVL6, LOC116158506 +3 more	Duplication	Small for gestational age	Gnot provided
Select item 156923	Single allele	ANTXR2, LOC129389222	Deletion	Small for gestational age	Gnot provided
Select item 156918	Single allele		Deletion	Normal pregnancy +2 more	Gnot provided
Select item 156913	NC_000004.12:g.35148038_35149615del		Deletion	Small for gestational age	Gnot provided
Select item 156909	Single allele		Deletion	Small for gestational age +1 more	Gnot provided
Select item 156895	NC_000003.12:g.163943745_163946498del		Deletion	Small for gestational age	Gnot provided
Select item 156892	CM000665.1:g.162132155_162142475dup		Duplication	Small for gestational age	Gnot provided
Select item 156886	Single allele		Deletion	Preeclampsia +4 more	Gnot provided
Select item 156882	GRCh37/hg19 3q25.1(chr3:151514590-151574286)x1	AADAC, AADACL2-AS1	Deletion	Premature ovarian failure	GBenign

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