6735[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 149469	GRCh38/hg38 8q12.1(chr8:55751116-55937248)x3	LOC116186928, LOC124174256 +29 more	Copy number gain	See cases	GLikely benign
Select item 145241	GRCh38/hg38 8q12.1(chr8:55813087-55967049)x3	LOC116186928, LOC124174256 +26 more	Copy number gain	See cases	GBenign
Select item 2187174	NM_002350.4(LYN):c.10A>G (p.Ile4Val)	LYN (I4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799522	NM_002350.4(LYN):c.23G>A (p.Gly8Glu)	LYN (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007962	NM_002350.4(LYN):c.31A>G (p.Ser11Gly)	LYN (S11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835513	NM_002350.4(LYN):c.36G>A (p.Leu12=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909638	NM_002350.4(LYN):c.42C>T (p.Asp14=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1352115	NM_002350.4(LYN):c.44A>G (p.Asp15Gly)	LYN (D15G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2034412	NM_002350.4(LYN):c.72A>G (p.Val24=)	LYN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1939210	NM_002350.4(LYN):c.74G>A (p.Arg25His)	LYN (R25H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1504325	NM_002350.4(LYN):c.88A>G (p.Thr30Ala)	LYN (T30A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484709	NM_002350.4(LYN):c.109A>G (p.Thr37Ala)	LYN (T37A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2918671	NM_002350.4(LYN):c.111G>A (p.Thr37=)	LYN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968460	NM_002350.4(LYN):c.122A>G (p.Gln41Arg)	LYN (Q41R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964008	NM_002350.4(LYN):c.132+13T>A	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708603	NM_002350.4(LYN):c.132+17_132+18del	LYN	Deletion (intron variant)	not provided	GLikely benign
Select item 1638565	NM_002350.4(LYN):c.132+17A>G	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973487	NM_002350.4(LYN):c.133-14A>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899134	NM_002350.4(LYN):c.133-5C>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2177577	NM_002350.4(LYN):c.133-4G>A	LYN	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2892013	NM_002350.4(LYN):c.133G>A (p.Val45Ile)	LYN (V24I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050883	NM_002350.4(LYN):c.141A>G (p.Glu47=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1366165	NM_002350.4(LYN):c.141A>C (p.Glu47Asp)	LYN (E47D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765419	NM_002350.4(LYN):c.151T>C (p.Leu51=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906869	NM_002350.4(LYN):c.153A>G (p.Leu51=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111367	NM_002350.4(LYN):c.156T>A (p.Pro52=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1137924	NM_002350.4(LYN):c.156T>C (p.Pro52=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902430	NM_002350.4(LYN):c.159A>G (p.Gly53=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432547	NM_002350.4(LYN):c.178+4T>C	LYN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2094361	NM_002350.4(LYN):c.178+12T>C	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853373	NM_002350.4(LYN):c.178+13A>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1140857	NM_002350.4(LYN):c.178+14G>A	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928859	NM_002350.4(LYN):c.178+19A>G	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909183	NM_002350.4(LYN):c.179-19C>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072684	NM_002350.4(LYN):c.179-8A>C	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681455	NM_002350.4(LYN):c.179-3del	LYN	Deletion (intron variant)	not provided	GLikely benign
Select item 2051837	NM_002350.4(LYN):c.179-4T>C	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1387104	NM_002350.4(LYN):c.179-3T>C	LYN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2909008	NM_002350.4(LYN):c.184G>A (p.Glu62Lys)	LYN (E62K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500244	NM_002350.4(LYN):c.197A>T (p.Asp66Val)	LYN (D45V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365310	NM_002350.4(LYN):c.203T>C (p.Val68Ala)	LYN (V68A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927038	NM_002350.4(LYN):c.208G>A (p.Ala70Thr)	LYN (A70T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786240	NM_002350.4(LYN):c.217C>G (p.Pro73Ala)	LYN (P52A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969982	NM_002350.4(LYN):c.234C>T (p.His78=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386299	NM_002350.4(LYN):c.236C>T (p.Pro79Leu)	LYN (P58L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524655	NM_002350.4(LYN):c.237G>A (p.Pro79=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759189	NM_002350.4(LYN):c.240C>T (p.Asp80=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695370	NM_002350.4(LYN):c.243C>T (p.Asp81=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957727	NM_002350.4(LYN):c.248C>G (p.Ser83Cys)	LYN (S83C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516006	NM_002350.4(LYN):c.258A>G (p.Lys86=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2118063	NM_002350.4(LYN):c.264G>T (p.Glu88Asp)	LYN (E88D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719841	NM_002350.4(LYN):c.273A>G (p.Lys91=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1718035	NM_002350.4(LYN):c.274G>A (p.Val92Ile)	LYN (V71I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981674	NM_002350.4(LYN):c.284+8CT[4]	LYN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2126942	NM_002350.4(LYN):c.284+7G>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902439	NM_002350.4(LYN):c.284+9T>C	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126407	NM_002350.4(LYN):c.284+12C>G	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1577302	NM_002350.4(LYN):c.284+15del	LYN	Deletion (intron variant)	not provided	GLikely benign
Select item 1666425	NM_002350.4(LYN):c.284+18C>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674429	NM_002350.4(LYN):c.284+19G>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751471	NM_002350.4(LYN):c.285-19A>T	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663491	NM_002350.4(LYN):c.285-16T>G	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950234	NM_002350.4(LYN):c.285-15G>A	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1939910	NM_002350.4(LYN):c.285-3T>C	LYN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1401878	NM_002350.4(LYN):c.288T>G (p.His96Gln)	LYN (H75Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186710	NM_002350.4(LYN):c.314T>C (p.Leu105Pro)	LYN (L105P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351878	NM_002350.4(LYN):c.317T>C (p.Leu106Ser)	LYN (L106S +1 more)	Single nucleotide variant (missense variant)	LYN-related disorder	GUncertain significance
Select item 1347900	NM_002350.4(LYN):c.320C>G (p.Thr107Arg)	LYN (T86R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455248	NM_002350.4(LYN):c.324A>G (p.Lys108=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950286	NM_002350.4(LYN):c.339C>A (p.Ile113=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926538	NM_002350.4(LYN):c.351T>C (p.Tyr117=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136672	NM_002350.4(LYN):c.359A>T (p.Lys120Ile)	LYN (K99I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902960	NM_002350.4(LYN):c.377C>T (p.Thr126Ile)	LYN (T126I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528370	NM_002350.4(LYN):c.383+10C>G	LYN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927905	NM_002350.4(LYN):c.395A>G (p.Lys132Arg)	LYN (K111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016815	NM_002350.4(LYN):c.398A>G (p.Asp133Gly)	LYN (D112G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432661	NM_002350.4(LYN):c.400A>G (p.Ile134Val)	LYN (I134V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1588012	NM_002350.4(LYN):c.414C>T (p.Asp138=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514735	NM_002350.4(LYN):c.415G>A (p.Ala139Thr)	LYN (A139T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695345	NM_002350.4(LYN):c.417A>G (p.Ala139=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2746051	NM_002350.4(LYN):c.438A>C (p.Pro146=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640585	NM_002350.4(LYN):c.447C>T (p.Ser149=)	LYN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2417831	NM_002350.4(LYN):c.448G>T (p.Ala150Ser)	LYN (A129S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425128	NM_002350.4(LYN):c.448G>A (p.Ala150Thr)	LYN (A150T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2961827	NM_002350.4(LYN):c.475G>A (p.Glu159Lys)	LYN (E159K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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