ClinVar for Gene (Select 80321) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266253	NM_024491.4(CEP70):c.1337C>G (p.Thr446Ser)	CEP70 (T446S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266252	NM_024491.4(CEP70):c.67C>G (p.Gln23Glu)	CEP70 (Q5E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266251	NM_024491.4(CEP70):c.1031T>C (p.Ile344Thr)	CEP70 (I324T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266250	NM_024491.4(CEP70):c.649A>G (p.Ile217Val)	CEP70 (I217V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266249	NM_024491.4(CEP70):c.22C>A (p.Pro8Thr)	CEP70 (P8T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3266248	NM_024491.4(CEP70):c.1654A>G (p.Ile552Val)	CEP70 (I532V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266247	NM_024491.4(CEP70):c.1435G>A (p.Val479Met)	CEP70 (V459M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266246	NM_024491.4(CEP70):c.770G>T (p.Gly257Val)	CEP70 (G239V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143022	NM_024491.4(CEP70):c.881A>G (p.His294Arg)	CEP70 (H276R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143021	NM_024491.4(CEP70):c.854A>C (p.Lys285Thr)	CEP70 (K133T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143020	NM_024491.4(CEP70):c.494G>A (p.Arg165Gln)	CEP70 (R13Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143019	NM_024491.4(CEP70):c.438T>A (p.Asp146Glu)	CEP70 (D126E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143018	NM_024491.4(CEP70):c.377T>C (p.Ile126Thr)	CEP70 (I106T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143017	NM_024491.4(CEP70):c.140T>C (p.Val47Ala)	CEP70 (V29A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143016	NM_024491.4(CEP70):c.1385A>G (p.His462Arg)	CEP70 (H462R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143015	NM_024491.4(CEP70):c.1358A>G (p.Asn453Ser)	CEP70 (N301S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143014	NM_024491.4(CEP70):c.1244C>T (p.Thr415Ile)	CEP70 (T397I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2654192	NM_024491.4(CEP70):c.1084C>G (p.Pro362Ala)	CEP70 (P210A +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654191	NM_024491.4(CEP70):c.1425G>A (p.Lys475=)	CEP70	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654190	NM_024491.4(CEP70):c.1526T>A (p.Leu509His)	CEP70 (L357H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2613688	NM_024491.4(CEP70):c.1511G>A (p.Arg504Lys)	CEP70 (R352K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602957	NM_024491.4(CEP70):c.907G>A (p.Val303Met)	CEP70 (V285M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559425	NM_024491.4(CEP70):c.1469A>G (p.Asn490Ser)	CEP70 (N338S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532307	NM_024491.4(CEP70):c.761C>A (p.Thr254Asn)	CEP70 (T102N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531484	NM_024491.4(CEP70):c.485A>C (p.Lys162Thr)	CEP70 (K10T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479704	NM_024491.4(CEP70):c.362G>A (p.Ser121Asn)	CEP70 (S121N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475265	NM_024491.4(CEP70):c.914A>G (p.Lys305Arg)	CEP70 (K285R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426786	NC_000003.11:g.(?_137781658)_(138665815_?)del	A4GNT, ARMC8 +9 more	Deletion	not provided	GPathogenic
Select item 2402988	NM_024491.4(CEP70):c.1538A>G (p.Asp513Gly)	CEP70 (D361G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385141	NM_024491.4(CEP70):c.1432G>C (p.Asp478His)	CEP70 (D326H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379549	NM_024491.4(CEP70):c.497C>T (p.Thr166Met)	CEP70 (T146M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372740	NM_024491.4(CEP70):c.1387T>C (p.Phe463Leu)	CEP70 (F311L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355448	NM_024491.4(CEP70):c.622G>T (p.Val208Phe)	CEP70 (V56F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350699	NM_024491.4(CEP70):c.1463G>A (p.Arg488Gln)	CEP70 (R468Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335914	NM_024491.4(CEP70):c.415C>T (p.His139Tyr)	CEP70 (H139Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291940	NM_024491.4(CEP70):c.652G>A (p.Asp218Asn)	CEP70 (D200N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275823	NM_024491.4(CEP70):c.1533A>T (p.Glu511Asp)	CEP70 (E491D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257933	NM_024491.4(CEP70):c.1564G>A (p.Val522Ile)	CEP70 (V504I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252734	NM_024491.4(CEP70):c.789G>C (p.Gln263His)	CEP70 (Q245H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236304	NM_024491.4(CEP70):c.1700A>G (p.Gln567Arg)	CEP70 (Q415R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212978	NM_024491.4(CEP70):c.1489G>A (p.Gly497Arg)	CEP70 (G345R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1411280	NC_000003.11:g.(?_137781658)_(139258560_?)dup	A4GNT, ARMC8 +17 more	Duplication	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 978627	NM_024491.4(CEP70):c.264A>G (p.Ile88Met)	CEP70 (I68M +2 more)	Single nucleotide variant (missense variant +1 more)	Median cleft lip and palate	GUncertain significance
Select item 978626	NM_024491.4(CEP70):c.1732+104_1732+108del	CEP70	Deletion (intron variant)	Median cleft lip and palate	GUncertain significance
Select item 978625	NM_024491.4(CEP70):c.1732+103G>C	CEP70	Single nucleotide variant (intron variant)	Median cleft lip and palate	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814482	GRCh37/hg19 3q22.3(chr3:138203261-138669628)x3	FOXL2, CEP70 +3 more	Copy number gain	not provided	GLikely benign
Select item 687974	GRCh37/hg19 3q22.3(chr3:138111237-138265714)x3	CEP70, ESYT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687625	GRCh37/hg19 3q22.3-23(chr3:138220588-138777135)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 686241	GRCh37/hg19 3q22.2-23(chr3:135186881-140826836)x3	A4GNT, ARMC8 +31 more	Copy number gain	not provided	GUncertain significance
Select item 685423	GRCh37/hg19 3q22.3-23(chr3:138253995-138769278)x3	CEP70, FAIM +6 more	Copy number gain	not provided	GUncertain significance
Select item 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562820	GRCh37/hg19 3q22.3(chr3:138160487-138313518)x1	ESYT3, CEP70	Copy number loss	not provided	GLikely benign
Select item 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253333	GRCh37/hg19 3q22.3-23(chr3:135935129-141867748)x3	ARMC8, ZBTB38 +36 more	Copy number gain	See cases	GLikely pathogenic
Select item 155613	GRCh38/hg38 3q22.3-23(chr3:138468173-139001141)x3	CEP70, ESYT3 +19 more	Copy number gain	See cases	GLikely benign
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 148956	GRCh38/hg38 3q22.3-23(chr3:138529348-139056446)x3	CEP70, FAIM +22 more	Copy number gain	See cases	GUncertain significance
Select item 148711	GRCh38/hg38 3q22.3-23(chr3:138529348-139130105)x3	BPESC1, CEP70 +23 more	Copy number gain	See cases	GUncertain significance
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 76