ClinVar for Gene (Select 23350) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330461	NM_001080415.2(U2SURP):c.89A>G (p.His30Arg)	U2SURP (H30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185330	NM_001080415.2(U2SURP):c.498T>A (p.Asp166Glu)	U2SURP (D166E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185329	NM_001080415.2(U2SURP):c.2599C>A (p.Pro867Thr)	U2SURP (P867T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185328	NM_001080415.2(U2SURP):c.2593A>G (p.Lys865Glu)	U2SURP (K865E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185327	NM_001080415.2(U2SURP):c.1892A>G (p.Asn631Ser)	U2SURP (N198S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185326	NM_001080415.2(U2SURP):c.1472C>T (p.Thr491Met)	U2SURP (T490M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185325	NM_001080415.2(U2SURP):c.137G>A (p.Arg46Gln)	U2SURP (R46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2609619	NM_001080415.2(U2SURP):c.1199C>T (p.Pro400Leu)	U2SURP (P399L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602385	NM_001080415.2(U2SURP):c.2509A>C (p.Ser837Arg)	U2SURP (S428R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561180	NM_001080415.2(U2SURP):c.1024A>T (p.Met342Leu)	U2SURP (M341L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551062	NM_001080415.2(U2SURP):c.1967C>T (p.Ala656Val)	U2SURP (A655V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548945	NM_001080415.2(U2SURP):c.2600C>T (p.Pro867Leu)	U2SURP (P434L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537480	NM_001080415.2(U2SURP):c.381T>A (p.Ser127Arg)	U2SURP (S127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535924	NM_001080415.2(U2SURP):c.1026G>T (p.Met342Ile)	U2SURP (M341I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472276	NM_001080415.2(U2SURP):c.787C>T (p.Pro263Ser)	U2SURP (P262S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382360	NM_001080415.2(U2SURP):c.2156C>T (p.Thr719Ile)	U2SURP (T718I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381793	NM_001080415.2(U2SURP):c.28C>G (p.Gln10Glu)	U2SURP (Q10E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327525	NM_001080415.2(U2SURP):c.3003A>C (p.Arg1001Ser)	U2SURP (R1001S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324766	NM_001080415.2(U2SURP):c.2475G>A (p.Met825Ile)	U2SURP (M392I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275338	NM_001080415.2(U2SURP):c.157C>T (p.His53Tyr)	U2SURP (H53Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273599	NM_001080415.2(U2SURP):c.2797C>G (p.Pro933Ala)	U2SURP (P524A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209622	NM_001080415.2(U2SURP):c.16C>T (p.Pro6Ser)	U2SURP (P6S)	Single nucleotide variant (missense variant +1 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 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
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 980065	GRCh37/hg19 3q23-24(chr3:142542265-142896504)x3	PCOLCE2, U2SURP +2 more	Copy number gain	not provided	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 775203	NM_001080415.2(U2SURP):c.1818A>T (p.Ser606=)	U2SURP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689091	GRCh37/hg19 3q23(chr3:142737529-142783108)x1	U2SURP	Copy number loss	not provided	GUncertain significance
Select item 688580	GRCh37/hg19 3q23-24(chr3:142759699-142986037)x3	CHST2, SLC9A9 +1 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 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 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 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 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 146560	GRCh38/hg38 3q23-24(chr3:142780798-146233927)x1	CHST2, DIPK2A +49 more	Copy number loss	See cases	GUncertain significance
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 57835	GRCh38/hg38 3q23-24(chr3:141751960-148246189)x1	ATP1B3, ATR +107 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

ClinVar

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Links from Gene

Items: 44