758[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59135	GRCh38/hg38 9q34.11-34.13(chr9:129949815-132342490)x1	LOC130002822, LOC130002823 +160 more	Copy number loss	See cases	GPathogenic
Select item 914680	NM_054012.3(ASS1):c.-300G>C	ASS1	Single nucleotide variant	Citrullinemia type I	GUncertain significance
Select item 365239	NM_054012.3(ASS1):c.-286_-285insT	ASS1	Insertion (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 912711	NM_054012.3(ASS1):c.-278G>T	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365240	NM_000050.4(ASS1):c.-323G>T	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I +1 more	GBenign
Select item 365241	NM_054012.3(ASS1):c.-242G>C	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365243	NM_054012.3(ASS1):c.-233G>T	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365242	NM_054012.3(ASS1):c.-233G>C	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 912712	NM_054012.3(ASS1):c.-217G>T	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365244	NM_054012.3(ASS1):c.-203C>G	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365245	NM_054012.3(ASS1):c.-185A>G	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 913080	NM_054012.3(ASS1):c.-175G>A	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GLikely benign
Select item 365246	NM_054012.3(ASS1):c.-172C>T	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GBenign
Select item 365247	NM_054012.3(ASS1):c.-171G>A	ASS1, LOC130002809	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365248	NM_054012.3(ASS1):c.-146_-145dup	ASS1, LOC130002809	Duplication (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 365249	NM_054012.3(ASS1):c.-101C>G	ASS1	Single nucleotide variant (5 prime UTR variant)	Citrullinemia type I	GUncertain significance
Select item 517811	NM_000050.4(ASS1):c.-113_-112delinsTT	ASS1	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 511622	NM_054012.4(ASS1):c.-10G>A	ASS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1328790	NM_054012.4(ASS1):c.-6+44G>C	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249407	NM_054012.4(ASS1):c.-6+67A>C	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390066	NM_054012.4(ASS1):c.-5-1915C>T	ASS1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 382981	NM_054012.4(ASS1):c.-5-1904G>A	ASS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 381450	NM_054012.4(ASS1):c.-5-1883C>T	ASS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1204545	NM_054012.4(ASS1):c.-5-300G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207249	NM_054012.4(ASS1):c.-5-215G>A	ASS1, LOC124310668	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683297	NM_054012.4(ASS1):c.-5-172T>C	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1214955	NM_054012.4(ASS1):c.-5-93C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214683	NM_054012.4(ASS1):c.-5-41C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 913081	NM_054012.4(ASS1):c.-5-12G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I	GUncertain significance
Select item 649068	NC_000009.12:g.(?_130452214)_(130454383_?)del	ASS1	Deletion	Citrullinemia +1 more	GPathogenic
Select item 528372	NM_054012.4(ASS1):c.-5-10C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I +2 more	GUncertain significance
Select item 3336240	NM_054012.4(ASS1):c.-5-5G>A	ASS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 203632	NM_054012.4(ASS1):c.-4C>T	ASS1	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 550341	NM_054012.4(ASS1):c.1A>G (p.Met1Val)	ASS1 (M1V)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I	GLikely pathogenic
Select item 371044	NM_054012.4(ASS1):c.3G>A (p.Met1Ile)	ASS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Citrullinemia type I	GLikely pathogenic
Select item 1024793	NM_054012.4(ASS1):c.8G>A (p.Ser3Asn)	ASS1 (S3N)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 203633	NM_054012.4(ASS1):c.14G>C (p.Gly5Ala)	ASS1 (G5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2177407	NM_054012.4(ASS1):c.16T>G (p.Ser6Ala)	ASS1 (S6A)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1578391	NM_054012.4(ASS1):c.18C>G (p.Ser6=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 703155	NM_054012.4(ASS1):c.18C>T (p.Ser6=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 582173	NM_054012.4(ASS1):c.19G>A (p.Val7Met)	ASS1 (V7M)	Single nucleotide variant (missense variant)	Citrullinemia type I +3 more	GUncertain significance
Select item 842451	NM_054012.4(ASS1):c.28G>C (p.Ala10Pro)	ASS1 (A10P)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 726799	NM_054012.4(ASS1):c.33C>T (p.Tyr11=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 750116	NM_054012.4(ASS1):c.39C>T (p.Gly13=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 6324	NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)	ASS1 (G14S)	Single nucleotide variant (missense variant)	Citrullinemia +1 more	GPathogenic/Likely pathogenic
Select item 2827285	NM_054012.4(ASS1):c.42C>G (p.Gly14=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 1093980	NM_054012.4(ASS1):c.51C>T (p.Thr17=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 6331	NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)	ASS1 (S18L)	Single nucleotide variant (missense variant)	Citrullinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 796097	NM_054012.4(ASS1):c.54G>A (p.Ser18=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2744961	NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)	ASS1 (C19*)	Single nucleotide variant (nonsense)	Citrullinemia	GPathogenic
Select item 2732459	NM_054012.4(ASS1):c.60C>T (p.Ile20=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 933742	NM_054012.4(ASS1):c.63C>A (p.Leu21=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 386027	NM_054012.4(ASS1):c.63C>T (p.Leu21=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia +1 more	GLikely benign
Select item 2146316	NM_054012.4(ASS1):c.65T>G (p.Val22Gly)	ASS1 (V22G)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1802213	NM_054012.4(ASS1):c.66del (p.Trp23fs)	ASS1 (W23fs)	Deletion (frameshift variant)	Citrullinemia type I	GLikely pathogenic
Select item 2679009	NM_054012.4(ASS1):c.69G>A (p.Trp23Ter)	ASS1 (W23*)	Single nucleotide variant (nonsense)	Citrullinemia type I	GLikely pathogenic
Select item 1153777	NM_054012.4(ASS1):c.84C>A (p.Gly28=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 1001541	NM_054012.4(ASS1):c.86A>G (p.Tyr29Cys)	ASS1 (Y29C)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 1101088	NM_054012.4(ASS1):c.90C>T (p.Asp30=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 2034356	NM_054012.4(ASS1):c.95_105+4del	ASS1	Deletion (splice donor variant)	Citrullinemia	GLikely pathogenic
Select item 1522266	NM_054012.4(ASS1):c.94A>G (p.Ile32Val)	ASS1 (I32V)	Single nucleotide variant (missense variant)	Citrullinemia	GUncertain significance
Select item 254750	NM_054012.4(ASS1):c.99C>T (p.Ala33=)	ASS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1106174	NM_054012.4(ASS1):c.102T>C (p.Tyr34=)	ASS1	Single nucleotide variant (synonymous variant)	Citrullinemia	GLikely benign
Select item 1687575	NM_054012.4(ASS1):c.105+5G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia type I	GUncertain significance
Select item 2832762	NM_054012.4(ASS1):c.105+7G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1673966	NM_054012.4(ASS1):c.105+10C>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1115532	NM_054012.4(ASS1):c.105+10C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2750248	NM_054012.4(ASS1):c.105+11G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 3019634	NM_054012.4(ASS1):c.105+14C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1674247	NM_054012.4(ASS1):c.105+14C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2778103	NM_054012.4(ASS1):c.105+17G>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1268567	NM_054012.4(ASS1):c.105+74G>C	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177007	NM_054012.4(ASS1):c.105+115G>A	ASS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254266	NM_054012.4(ASS1):c.105+246C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208135	NM_054012.4(ASS1):c.105+290C>T	ASS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231423	NM_054012.4(ASS1):c.106-284G>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266994	NM_054012.4(ASS1):c.106-146C>A	ASS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2891487	NM_054012.4(ASS1):c.106-19C>G	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1568503	NM_054012.4(ASS1):c.106-16C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GBenign
Select item 2973447	NM_054012.4(ASS1):c.106-15G>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2109259	NM_054012.4(ASS1):c.106-15G>C	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 1673938	NM_054012.4(ASS1):c.106-15G>A	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 2835826	NM_054012.4(ASS1):c.106-14C>T	ASS1	Single nucleotide variant (intron variant)	Citrullinemia	GLikely benign
Select item 197098	NM_054012.4(ASS1):c.106-10T>G	ASS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign

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