6297[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 3046285	NM_001364564.1(SALL2):c.*657C>T	SALL2	Single nucleotide variant (synonymous variant +2 more)	SALL2-related disorder	GLikely benign
Select item 3033477	NM_001364564.1(SALL2):c.*496A>C	SALL2 (M841L +1 more)	Single nucleotide variant (missense variant +2 more)	SALL2-related disorder	GLikely benign
Select item 3157572	NM_001364564.1(SALL2):c.2984C>A (p.Pro995His)	SALL2 (P997H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205017	NM_001364564.1(SALL2):c.2962A>G (p.Ile988Val)	SALL2 (I988V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2056324	NM_001364564.1(SALL2):c.2959T>C (p.Ser987Pro)	SALL2 (S987P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1932176	NM_001364564.1(SALL2):c.2945C>T (p.Pro982Leu)	SALL2 (P982L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2616138	NM_001364564.1(SALL2):c.2908C>T (p.His970Tyr)	SALL2 (H970Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058672	NM_001364564.1(SALL2):c.2907C>T (p.Pro969=)	SALL2	Single nucleotide variant (synonymous variant +1 more)	SALL2-related disorder	GLikely benign
Select item 3316039	NM_001364564.1(SALL2):c.2891T>A (p.Val964Glu)	SALL2 (V964E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2880878	NM_001364564.1(SALL2):c.2852C>A (p.Ala951Asp)	SALL2 (A816D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2274822	NM_001364564.1(SALL2):c.2848C>T (p.Arg950Trp)	SALL2 (R952W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316032	NM_001364564.1(SALL2):c.2807C>T (p.Pro936Leu)	SALL2 (P938L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2121915	NM_001364564.1(SALL2):c.2735A>G (p.Glu912Gly)	SALL2 (E779G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233459	NM_001364564.1(SALL2):c.2712G>T (p.Glu904Asp)	SALL2 (E769D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2040752	NM_001364564.1(SALL2):c.2712G>C (p.Glu904Asp)	SALL2 (E769D +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3316038	NM_001364564.1(SALL2):c.2621C>T (p.Ala874Val)	SALL2 (A741V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784278	NM_001364564.1(SALL2):c.2513C>G (p.Pro838Arg)	SALL2 (P838R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 739905	NM_001364564.1(SALL2):c.2507C>T (p.Pro836Leu)	SALL2 (P701L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2386167	NM_001364564.1(SALL2):c.2473A>G (p.Ser825Gly)	SALL2 (S692G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2920198	NM_001364564.1(SALL2):c.2442G>A (p.Ala814=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2403057	NM_001364564.1(SALL2):c.2441C>T (p.Ala814Val)	SALL2 (A814V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211800	NM_001364564.1(SALL2):c.2431G>A (p.Gly811Arg)	SALL2 (G678R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316035	NM_001364564.1(SALL2):c.2294A>G (p.Glu765Gly)	SALL2 (E632G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435647	NM_001364564.1(SALL2):c.2286GGA[1] (p.Glu766_Glu767del)	SALL2	Microsatellite (inframe_deletion)	Coloboma, ocular, autosomal recessive	GUncertain significance
Select item 2154876	NM_001364564.1(SALL2):c.2267C>G (p.Pro756Arg)	SALL2 (P621R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604922	NM_001364564.1(SALL2):c.2264C>T (p.Ser755Leu)	SALL2 (S757L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067346	NM_001364564.1(SALL2):c.2263T>C (p.Ser755Pro)	SALL2 (S620P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561535	NM_001364564.1(SALL2):c.2230= (p.Arg744=)	SALL2	Variation (no sequence alteration)	not provided	GBenign
Select item 769203	NM_001364564.1(SALL2):c.2230C>G (p.Arg744Gly)	SALL2 (R611G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2039674	NM_001364564.1(SALL2):c.2226G>A (p.Gly742=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2786837	NM_001364564.1(SALL2):c.2225G>C (p.Gly742Ala)	SALL2 (G609A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316034	NM_001364564.1(SALL2):c.2224G>A (p.Gly742Arg)	SALL2 (G607R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037421	NM_001364564.1(SALL2):c.2223C>T (p.Ser741=)	SALL2	Single nucleotide variant (synonymous variant)	SALL2-related disorder	GLikely benign
Select item 2247714	NM_001364564.1(SALL2):c.2206G>A (p.Glu736Lys)	SALL2 (E601K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2709686	NM_001364564.1(SALL2):c.2205C>T (p.Ser735=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706187	NM_001364564.1(SALL2):c.2165C>T (p.Ala722Val)	SALL2 (A587V +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3157569	NM_001364564.1(SALL2):c.2159G>T (p.Gly720Val)	SALL2 (G585V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225581	NM_001364564.1(SALL2):c.2126G>A (p.Arg709Gln)	SALL2 (R709Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2187385	NM_001364564.1(SALL2):c.2118G>A (p.Gln706=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2702689	NM_001364564.1(SALL2):c.2108C>T (p.Thr703Ile)	SALL2 (T568I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784279	NM_001364564.1(SALL2):c.2052T>C (p.Ala684=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2280820	NM_001364564.1(SALL2):c.2027T>C (p.Phe676Ser)	SALL2 (F676S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3016148	NM_001364564.1(SALL2):c.2018G>A (p.Arg673His)	SALL2 (R538H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481225	NM_001364564.1(SALL2):c.2017C>T (p.Arg673Cys)	SALL2 (R540C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2807808	NM_001364564.1(SALL2):c.2005A>T (p.Arg669Trp)	SALL2 (R534W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3157567	NM_001364564.1(SALL2):c.1933C>T (p.Arg645Cys)	SALL2 (R647C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489921	NM_001364564.1(SALL2):c.1924C>T (p.Arg642Trp)	SALL2 (R509W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157565	NM_001364564.1(SALL2):c.1907G>A (p.Arg636Gln)	SALL2 (R636Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455350	NM_001364564.1(SALL2):c.1862C>T (p.Ser621Leu)	SALL2 (S486L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2071151	NM_001364564.1(SALL2):c.1841C>T (p.Thr614Ile)	SALL2 (T479I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3354715	NM_001364564.1(SALL2):c.1836C>T (p.Ala612=)	SALL2	Single nucleotide variant (synonymous variant)	SALL2-related disorder	GLikely benign
Select item 3157564	NM_001364564.1(SALL2):c.1811C>T (p.Ala604Val)	SALL2 (A469V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2698186	NM_001364564.1(SALL2):c.1799A>G (p.Gln600Arg)	SALL2 (Q602R +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3316033	NM_001364564.1(SALL2):c.1796G>A (p.Arg599Gln)	SALL2 (R601Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219648	NM_001364564.1(SALL2):c.1795C>T (p.Arg599Trp)	SALL2 (R601W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644068	NM_001364564.1(SALL2):c.1738T>C (p.Leu580=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2039675	NM_001364564.1(SALL2):c.1734G>A (p.Glu578=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593451	NM_001364564.1(SALL2):c.1702A>G (p.Thr568Ala)	SALL2 (T435A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157563	NM_001364564.1(SALL2):c.1638G>A (p.Met546Ile)	SALL2 (M548I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157562	NM_001364564.1(SALL2):c.1634G>A (p.Arg545His)	SALL2 (R410H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357280	NM_001364564.1(SALL2):c.1631C>T (p.Thr544Ile)	SALL2 (T411I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206210	NM_001364564.1(SALL2):c.1625C>T (p.Thr542Met)	SALL2 (T544M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791637	NM_001364564.1(SALL2):c.1530G>C (p.Val510=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710217	NM_001364564.1(SALL2):c.1459A>G (p.Ser487Gly)	SALL2 (S354G +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2316254	NM_001364564.1(SALL2):c.1458G>T (p.Glu486Asp)	SALL2 (E486D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716381	NM_001364564.1(SALL2):c.1446C>T (p.Leu482=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2258050	NM_001364564.1(SALL2):c.1427T>G (p.Val476Gly)	SALL2 (V341G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316030	NM_001364564.1(SALL2):c.1381G>A (p.Glu461Lys)	SALL2 (E328K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157561	NM_001364564.1(SALL2):c.1378G>A (p.Glu460Lys)	SALL2 (E325K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017261	NM_001364564.1(SALL2):c.1272G>C (p.Lys424Asn)	SALL2 (K424N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901992	NM_001364564.1(SALL2):c.1259G>A (p.Arg420Gln)	SALL2 (R287Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 763504	NM_001364564.1(SALL2):c.1209C>T (p.Val403=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3157560	NM_001364564.1(SALL2):c.1207G>A (p.Val403Ile)	SALL2 (V268I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461976	NM_001364564.1(SALL2):c.1121G>A (p.Arg374His)	SALL2 (R239H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2969262	NM_001364564.1(SALL2):c.1087C>T (p.Pro363Ser)	SALL2 (P363S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678487	NM_001364564.1(SALL2):c.1028C>G (p.Pro343Arg)	SALL2 (P208R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2489831	NM_001364564.1(SALL2):c.991C>T (p.Leu331Phe)	SALL2 (L331F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053675	NM_001364564.1(SALL2):c.930G>A (p.Gln310=)	SALL2	Single nucleotide variant (synonymous variant)	SALL2-related disorder	GLikely benign
Select item 1921505	NM_001364564.1(SALL2):c.927T>C (p.Asp309=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897396	NM_001364564.1(SALL2):c.905C>T (p.Pro302Leu)	SALL2 (P302L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549095	NM_001364564.1(SALL2):c.880C>T (p.His294Tyr)	SALL2 (H296Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2986639	NM_001364564.1(SALL2):c.878G>C (p.Ser293Thr)	SALL2 (S158T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752218	NM_001364564.1(SALL2):c.825T>C (p.Leu275=)	SALL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893075	NM_001364564.1(SALL2):c.777CTCTTC[1] (p.Ser262_Ser263del)	SALL2	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2991147	NM_001364564.1(SALL2):c.747C>T (p.Ser249=)	SALL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2237832	NM_001364564.1(SALL2):c.733C>T (p.Pro245Ser)	SALL2 (P245S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322451	NM_001364564.1(SALL2):c.685A>T (p.Thr229Ser)	SALL2 (T229S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1032993	NM_001364564.1(SALL2):c.662C>T (p.Pro221Leu)	SALL2 (P221L +1 more)	Single nucleotide variant (missense variant +1 more)	Coloboma, ocular, autosomal recessive	GUncertain significance

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