ClinVar for Gene (Select 349565) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300166	NM_001401600.1(NMNAT3):c.674C>T (p.Thr225Met)	COPB2-DT, NMNAT3 (T188M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200832	NM_001401600.1(NMNAT3):c.196G>A (p.Ala66Thr)	COPB2-DT, NMNAT3 (A160T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200831	NM_001401600.1(NMNAT3):c.476A>G (p.Lys159Arg)	COPB2-DT, NMNAT3 (K122R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200830	NM_001401600.1(NMNAT3):c.410A>G (p.Asp137Gly)	COPB2-DT, NMNAT3 (D231G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200829	NM_001401600.1(NMNAT3):c.278C>G (p.Thr93Arg)	COPB2-DT, NMNAT3 (T56R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3200828	NM_001401600.1(NMNAT3):c.236G>A (p.Arg79Gln)	COPB2-DT, NMNAT3 (R173Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
Select item 2602351	NM_001401600.1(NMNAT3):c.409G>A (p.Asp137Asn)	COPB2-DT, NMNAT3 (D137N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520376	NM_001401600.1(NMNAT3):c.191G>A (p.Arg64Gln)	COPB2-DT, NMNAT3 (R64Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2464762	NM_001401600.1(NMNAT3):c.452C>T (p.Ala151Val)	COPB2-DT, NMNAT3 (A114V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461979	NM_001401600.1(NMNAT3):c.175G>A (p.Ala59Thr)	COPB2-DT, NMNAT3 (A59T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2280265	NM_001401600.1(NMNAT3):c.306C>A (p.Ser102Arg)	COPB2-DT, NMNAT3 (S102R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258370	NM_001401600.1(NMNAT3):c.271A>G (p.Met91Val)	COPB2-DT, NMNAT3 (M185V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2248172	NM_001401600.1(NMNAT3):c.608C>T (p.Thr203Ile)	COPB2-DT, NMNAT3 (T114I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206306	NM_001401600.1(NMNAT3):c.259C>A (p.Gln87Lys)	COPB2-DT, NMNAT3 (Q87K +2 more)	Single nucleotide variant (missense variant +3 more)	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 1340775	GRCh37/hg19 3q23(chr3:139339589-139659995)x4	CLSTN2, NMNAT3	Copy number gain	not provided	GUncertain significance
Select item 1340364	GRCh37/hg19 3q23(chr3:139185478-139827713)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	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 980063	GRCh37/hg19 3q23(chr3:138737687-142053396)x1	PRR23C, CLSTN2 +18 more	Copy number loss	not provided	GPathogenic
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 814483	GRCh37/hg19 3q23(chr3:139171944-139827713)x3	RBP1, NMNAT3 +2 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 685841	GRCh37/hg19 3q23(chr3:139185788-139827742)x3	CLSTN2, NMNAT3 +2 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 562819	GRCh37/hg19 3q22.3-23(chr3:138023193-140565017)x3	MRAS, PRR23A +16 more	Copy number gain	not provided	GUncertain significance
Select item 442677	GRCh37/hg19 3q23(chr3:139185477-139832220)x3	CLSTN2, NMNAT3 +2 more	Copy number gain	See cases	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 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 154230	GRCh38/hg38 3q23(chr3:139466635-140108900)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
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 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 149950	GRCh38/hg38 3q23(chr3:139468925-140102684)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
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 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
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 57796	GRCh38/hg38 3q23(chr3:139525129-140095577)x3	CLSTN2, COPB2-DT +10 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 45