ClinVar for Gene (Select 2934) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348707	NM_198252.3(GSN):c.-10+4584G>A	GSN, LOC126860753 (M1I)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GUncertain significance
Select item 3347223	NM_198252.3(GSN):c.1747G>A (p.Glu583Lys)	GSN (E365K +7 more)	Single nucleotide variant (missense variant)	GSN-related disorder	GUncertain significance
Select item 3346316	NM_198252.3(GSN):c.2096G>A (p.Gly699Asp)	GSN (G481D +7 more)	Single nucleotide variant (missense variant)	GSN-related disorder	GUncertain significance
Select item 3341545	NM_198252.3(GSN):c.2027-32G>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3282986	NM_198252.3(GSN):c.1323C>G (p.Asn441Lys)	GSN (N449K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257037	NM_198252.3(GSN):c.1301G>A (p.Arg434His)	GSN (R216H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245280	NC_000009.11:g.(?_124092234)_(124094793_?)del	GSN	Deletion	not provided	GUncertain significance
Select item 3245279	NC_000009.11:g.(?_124062140)_(124094881_?)dup	GSN	Duplication	not provided	GUncertain significance
Select item 3102923	NM_198252.3(GSN):c.787C>A (p.Leu263Ile)	GSN (L271I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102921	NM_198252.3(GSN):c.542G>A (p.Ser181Asn)	GSN (S232N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3102920	NM_198252.3(GSN):c.2165T>C (p.Leu722Ser)	GSN (L746S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102919	NM_198252.3(GSN):c.2137G>C (p.Asp713His)	GSN (D737H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102918	NM_198252.3(GSN):c.1132A>G (p.Thr378Ala)	GSN (T378A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3058775	NM_198252.3(GSN):c.-10+908C>T	GSN, GSN-AS1 +1 more (R7C)	Single nucleotide variant (missense variant +3 more)	GSN-related disorder	GLikely benign
Select item 3053431	NM_198252.3(GSN):c.30G>A (p.Lys10=)	GSN	Single nucleotide variant (synonymous variant +1 more)	GSN-related disorder	GLikely benign
Select item 3040327	NM_198252.3(GSN):c.-10+4624G>T	GSN, LOC126860753	Single nucleotide variant (intron variant +1 more)	GSN-related disorder	GLikely benign
Select item 3023705	NM_198252.3(GSN):c.1887+13G>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023641	NM_198252.3(GSN):c.1582G>A (p.Val528Ile)	GSN (V545I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023247	NM_198252.3(GSN):c.1504C>T (p.Arg502Cys)	GSN (R513C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023232	NM_198252.3(GSN):c.664-11A>C	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021056	NM_198252.3(GSN):c.120G>A (p.Thr40=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3018645	NM_198252.3(GSN):c.469G>A (p.Glu157Lys)	GSN (E168K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017901	NM_198252.3(GSN):c.1494C>T (p.Gly498=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011317	NM_198252.3(GSN):c.1701C>T (p.Ala567=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010141	NM_198252.3(GSN):c.69G>A (p.Glu23=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3010018	NM_198252.3(GSN):c.-9-2043C>T	GSN (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3008961	NM_198252.3(GSN):c.615C>T (p.Ala205=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3007479	NM_198252.3(GSN):c.831A>G (p.Ser277=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007130	NM_198252.3(GSN):c.680C>T (p.Pro227Leu)	GSN (P235L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006849	NM_198252.3(GSN):c.1417-16C>G	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006021	NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys)	GSN (Y222C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3004979	NM_198252.3(GSN):c.1966-11C>G	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004845	NM_198252.3(GSN):c.425A>G (p.Lys142Arg)	GSN (K153R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003732	NM_198252.3(GSN):c.708C>T (p.Thr236=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003614	NM_198252.3(GSN):c.1505G>T (p.Arg502Leu)	GSN (R510L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003326	NM_198252.3(GSN):c.754-9T>C	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998624	NM_198252.3(GSN):c.1356C>T (p.Val452=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998543	NM_198252.3(GSN):c.1052C>G (p.Thr351Arg)	GSN (T133R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995741	NM_198252.3(GSN):c.223G>T (p.Gly75Trp)	GSN (G99W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994884	NM_198252.3(GSN):c.-9-2025G>T	GSN (R26L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993776	NM_198252.3(GSN):c.841T>C (p.Phe281Leu)	GSN (F332L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993431	NM_198252.3(GSN):c.2066G>A (p.Arg689Gln)	GSN (R700Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991007	NM_198252.3(GSN):c.133G>A (p.Val45Ile)	GSN (V56I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2989280	NM_198252.3(GSN):c.1587+11G>C	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987026	NM_198252.3(GSN):c.2176A>G (p.Met726Val)	GSN (M508V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986328	NM_198252.3(GSN):c.513+15C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985357	NM_198252.3(GSN):c.1921G>T (p.Asp641Tyr)	GSN (D641Y +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985128	NM_198252.3(GSN):c.1669A>G (p.Thr557Ala)	GSN (T557A +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983454	NM_198252.3(GSN):c.272G>T (p.Arg91Leu)	GSN (R108L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983320	NM_198252.3(GSN):c.514-11C>G	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982888	NM_198252.3(GSN):c.754-10G>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982669	NM_198252.3(GSN):c.-9-2101A>G	GSN (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2980409	NM_198252.3(GSN):c.1465G>C (p.Gly489Arg)	GSN (G525R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978143	NM_198252.3(GSN):c.181C>T (p.Leu61Phe)	GSN (L61F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2977677	NM_198252.3(GSN):c.1537C>T (p.Arg513Cys)	GSN (R524C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976345	NM_198252.3(GSN):c.-9-2082C>T	GSN (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975621	NM_198252.3(GSN):c.479A>G (p.Asn160Ser)	GSN (N160S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974207	NM_198252.3(GSN):c.751A>C (p.Lys251Gln)	GSN (K251Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974000	NM_198252.3(GSN):c.1302C>G (p.Arg434=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973999	NM_198252.3(GSN):c.636G>A (p.Glu212=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972261	NM_198252.3(GSN):c.564G>A (p.Lys188=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971557	NM_198252.3(GSN):c.1594C>A (p.Pro532Thr)	GSN (P532T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970723	NM_198252.3(GSN):c.360T>G (p.Gly120=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969850	NM_198252.3(GSN):c.88G>A (p.Val30Met)	GSN (V41M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969556	NM_198252.3(GSN):c.1801C>T (p.Arg601Cys)	GSN (R625C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968686	NM_198252.3(GSN):c.1295G>A (p.Gly432Asp)	GSN (G432D +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968425	NM_198252.3(GSN):c.903G>A (p.Thr301=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967855	NM_198252.3(GSN):c.80T>C (p.Leu27Pro)	GSN (L27P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2967045	NM_198252.3(GSN):c.1724G>A (p.Arg575Gln)	GSN (R586Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964691	NM_198252.3(GSN):c.663+17C>A	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964106	NM_198252.3(GSN):c.1763-18C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964049	NM_198252.3(GSN):c.2164T>C (p.Leu722=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962166	NM_198252.3(GSN):c.1548G>T (p.Gln516His)	GSN (Q516H +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2961821	NM_198252.3(GSN):c.1960G>A (p.Asp654Asn)	GSN (D654N +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961733	NM_198252.3(GSN):c.686T>C (p.Leu229Pro)	GSN (L229P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961355	NM_198252.3(GSN):c.886+15G>C	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961152	NM_198252.3(GSN):c.1588-9C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960851	NM_198252.3(GSN):c.-9-2061_-9-2032dup	GSN	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2959030	NM_198252.3(GSN):c.736C>T (p.Leu246=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958533	NM_198252.3(GSN):c.1938C>T (p.Asp646=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958157	NM_198252.3(GSN):c.1888-12G>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957232	NM_198252.3(GSN):c.1095C>T (p.Asn365=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915637	NM_198252.3(GSN):c.1695G>T (p.Thr565=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908898	NM_198252.3(GSN):c.2026+9C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901035	NM_198252.3(GSN):c.436G>A (p.Val146Met)	GSN (V146M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2899909	NM_198252.3(GSN):c.2086G>A (p.Val696Met)	GSN (V707M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899908	NM_198252.3(GSN):c.197-7C>G	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899689	NM_198252.3(GSN):c.775A>G (p.Met259Val)	GSN (M259V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895093	NM_198252.3(GSN):c.1675G>A (p.Ala559Thr)	GSN (A567T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887897	NM_198252.3(GSN):c.1113C>T (p.Phe371=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886037	NM_198252.3(GSN):c.1120G>A (p.Ala374Thr)	GSN (A391T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885347	NM_198252.3(GSN):c.1554C>T (p.Arg518=)	GSN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2882591	NM_198252.3(GSN):c.2068C>T (p.Arg690Trp)	GSN (R698W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881106	NM_198252.3(GSN):c.585C>G (p.Gly195=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879087	NM_198252.3(GSN):c.1441C>T (p.Pro481Ser)	GSN (P263S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876861	NM_198252.3(GSN):c.1253A>T (p.Tyr418Phe)	GSN (Y200F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876144	NM_198252.3(GSN):c.254A>T (p.Asp85Val)	GSN (D109V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2874902	NM_198252.3(GSN):c.1192-7C>T	GSN	Single nucleotide variant (intron variant)	not provided	GLikely benign

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