25544[HGNC] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 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 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 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 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 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 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 146737	GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3	EPHB1, LOC112903838 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 149150	GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3	LOC112903838, LOC123038190 +7 more	Copy number gain	See cases	GUncertain significance
Select item 3296434	NM_018133.4(MSL2):c.1712T>C (p.Ile571Thr)	MSL2 (I571T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497691	NM_018133.4(MSL2):c.1642G>C (p.Val548Leu)	MSL2 (V474L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3211641	NM_018133.4(MSL2):c.1637T>C (p.Ile546Thr)	MSL2 (I472T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497692	NM_018133.4(MSL2):c.1625G>T (p.Ser542Ile)	MSL2 (S468I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370847	NM_018133.4(MSL2):c.1570A>T (p.Arg524Trp)	MSL2 (R450W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292608	NM_018133.4(MSL2):c.1525A>C (p.Lys509Gln)	MSL2 (K435Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3368993	NM_018133.4(MSL2):c.1451A>G (p.Tyr484Cys)	MSL2 (Y410C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342489	NM_018133.4(MSL2):c.1414del (p.Ser472fs)	MSL2 (S398fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342306	NM_018133.4(MSL2):c.1349A>G (p.Lys450Arg)	MSL2 (K376R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230623	NM_018133.4(MSL2):c.1332G>A (p.Met444Ile)	MSL2 (M370I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368873	NM_018133.4(MSL2):c.1321C>G (p.His441Asp)	MSL2 (H367D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534289	NM_018133.4(MSL2):c.1297G>A (p.Ala433Thr)	MSL2 (A359T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2388114	NM_018133.4(MSL2):c.1228A>G (p.Lys410Glu)	MSL2 (K410E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320677	NM_018133.4(MSL2):c.1223T>C (p.Met408Thr)	MSL2 (M334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211629	NM_018133.4(MSL2):c.1194C>A (p.Ser398Arg)	MSL2 (S324R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211628	NM_018133.4(MSL2):c.1186A>G (p.Lys396Glu)	MSL2 (K322E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311564	NM_018133.4(MSL2):c.1165C>T (p.Pro389Ser)	MSL2 (P315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252355	NM_018133.4(MSL2):c.1134dup (p.Lys379fs)	MSL2 (K305fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2624347	NM_018133.4(MSL2):c.1109C>T (p.Ala370Val)	MSL2 (A296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499549	NM_018133.4(MSL2):c.1102del (p.Ala368fs)	MSL2 (A294fs +1 more)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3342626	NM_018133.4(MSL2):c.1057C>T (p.Gln353Ter)	MSL2 (Q279* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2581154	NM_018133.4(MSL2):c.1047_1050del (p.Ser349fs)	MSL2 (S275fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3342665	NM_018133.4(MSL2):c.1007C>G (p.Ala336Gly)	MSL2 (A262G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203805	NM_018133.4(MSL2):c.992C>G (p.Ala331Gly)	MSL2 (A331G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211673	NM_018133.4(MSL2):c.971A>T (p.His324Leu)	MSL2 (H250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296886	NM_018133.4(MSL2):c.959G>C (p.Ser320Thr)	MSL2 (S246T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581155	NM_018133.4(MSL2):c.796_797del (p.Leu266fs)	MSL2 (L192fs +1 more)	Microsatellite (frameshift variant)	Syndromic neurodevelopmental disorder	GPathogenic
Select item 2533649	NM_018133.4(MSL2):c.739T>C (p.Cys247Arg)	MSL2 (C173R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 638594	NM_018133.4(MSL2):c.694_697del (p.Ser232fs)	MSL2 (S158fs +1 more)	Microsatellite (frameshift variant)	Autism	GPathogenic
Select item 3211653	NM_018133.4(MSL2):c.658G>A (p.Val220Ile)	MSL2 (V220I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561093	NM_018133.4(MSL2):c.658G>T (p.Val220Leu)	MSL2 (V220L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526075	NM_018133.4(MSL2):c.629C>T (p.Pro210Leu)	MSL2 (P210L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336050	NM_018133.4(MSL2):c.593A>G (p.Asn198Ser)	MSL2 (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475601	NM_018133.4(MSL2):c.535G>T (p.Glu179Ter)	MSL2 (E179* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2265934	NM_018133.4(MSL2):c.521dup (p.Leu174fs)	MSL2 (L100fs +1 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 3342703	NM_018133.4(MSL2):c.473C>G (p.Ser158Cys)	MSL2 (S158C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371365	NM_018133.4(MSL2):c.334_335del (p.Gln112fs)	MSL2 (Q112fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3342788	NM_018133.4(MSL2):c.328A>G (p.Ile110Val)	MSL2 (I110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342366	NM_018133.4(MSL2):c.191dup (p.His64fs)	MSL2 (H64fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2217012	NM_018133.4(MSL2):c.163A>G (p.Ile55Val)	MSL2 (I55V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3343282	NM_018133.4(MSL2):c.115C>T (p.Arg39Ter)	MSL2 (R39*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 440996	NM_018133.4(MSL2):c.73C>T (p.Pro25Ser)	MSL2 (P25S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2581153	NM_018133.4(MSL2):c.67G>T (p.Gly23Ter)	MSL2 (G23*)	Single nucleotide variant (nonsense)	Syndromic neurodevelopmental disorder	GPathogenic
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 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
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 625695	GRCh37/hg19 3q22.2-24(chr3:135288025-146874012)	A4GNT, ARMC8 +54 more	Copy number gain	not provided	GPathogenic
Select item 562817	GRCh37/hg19 3q22.3(chr3:135805001-137555312)x3	STAG1, NCK1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 523199	GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1	EPHB1, KY +17 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
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 3363109	MSL2, 4-BP DEL, 694TCTG	MSL2	Deletion	KARAYOL-BORROTO-HAGHSHENAS NEURODEVELOPMENTAL SYNDROME	GPathogenic

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Items: 67