ClinVar for MedGen (Select 231160) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24359611.	NM_003036.4(SKI):c.164C>T (p.Ala55Val) GRCh37: Chr1:2160369 GRCh38: Chr1:2228930	SKI	A55V	Shprintzen-Goldberg syndrome	Uncertain significance (Mar 12, 2021)	criteria provided, single submitter
Select item 24359602.	NM_003036.4(SKI):c.139T>G (p.Tyr47Asp) GRCh37: Chr1:2160344 GRCh38: Chr1:2228905	SKI	Y47D	Shprintzen-Goldberg syndrome	Uncertain significance (Dec 4, 2019)	criteria provided, single submitter
Select item 24359593.	NM_003036.4(SKI):c.1505C>G (p.Pro502Arg) GRCh37: Chr1:2235762 GRCh38: Chr1:2304323	SKI	P502R	Shprintzen-Goldberg syndrome	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 24246084.	NC_000001.10:g.(?_2234397)_(2238204_?)dup GRCh37: Chr1:2234397-2238204	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 24204745.	NM_003036.4(SKI):c.1768-3C>T GRCh37: Chr1:2237456 GRCh38: Chr1:2306017	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 24195016.	NM_003036.4(SKI):c.848C>T (p.Ala283Val) GRCh37: Chr1:2161053 GRCh38: Chr1:2229614	SKI	A283V	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 22026927.	NM_003036.4(SKI):c.82T>A (p.Ser28Thr) GRCh37: Chr1:2160287 GRCh38: Chr1:2228848	SKI	S28T	Shprintzen-Goldberg syndrome	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 22017678.	NM_003036.4(SKI):c.1194G>A (p.Pro398=) GRCh37: Chr1:2234822 GRCh38: Chr1:2303383	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Mar 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22013339.	NM_003036.4(SKI):c.1095+6G>A GRCh37: Chr1:2234548 GRCh38: Chr1:2303109	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 219587110.	NM_003036.4(SKI):c.1999-14C>G GRCh37: Chr1:2238002 GRCh38: Chr1:2306563	SKI		Shprintzen-Goldberg syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 219569811.	NM_003036.4(SKI):c.1211+2T>G GRCh37: Chr1:2234841 GRCh38: Chr1:2303402	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219235312.	NM_003036.4(SKI):c.840C>G (p.Asn280Lys) GRCh37: Chr1:2161045 GRCh38: Chr1:2229606	SKI	N280K	Shprintzen-Goldberg syndrome	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 218982213.	NM_003036.4(SKI):c.1488G>C (p.Leu496Phe) GRCh37: Chr1:2235745 GRCh38: Chr1:2304306	SKI	L496F	Shprintzen-Goldberg syndrome	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 217945314.	NM_003036.4(SKI):c.214C>T (p.Pro72Ser) GRCh37: Chr1:2160419 GRCh38: Chr1:2228980	SKI	P72S	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 217270015.	NM_003036.4(SKI):c.189G>A (p.Pro63=) GRCh37: Chr1:2160394 GRCh38: Chr1:2228955	SKI		Shprintzen-Goldberg syndrome	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 216365616.	NM_003036.4(SKI):c.1055C>T (p.Pro352Leu) GRCh37: Chr1:2234502 GRCh38: Chr1:2303063	SKI	P352L	Shprintzen-Goldberg syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 216329517.	NM_003036.4(SKI):c.1475-17C>T GRCh37: Chr1:2235715 GRCh38: Chr1:2304276	SKI		Shprintzen-Goldberg syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 215448918.	NM_003036.4(SKI):c.1972C>T (p.Arg658Cys) GRCh37: Chr1:2237663 GRCh38: Chr1:2306224	SKI	R658C	Shprintzen-Goldberg syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 214564819.	NM_003036.4(SKI):c.9G>C (p.Ala3=) GRCh37: Chr1:2160214 GRCh38: Chr1:2228775	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Dec 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214371220.	NM_003036.4(SKI):c.205G>C (p.Glu69Gln) GRCh37: Chr1:2160410 GRCh38: Chr1:2228971	SKI	E69Q	Shprintzen-Goldberg syndrome	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 214223421.	NM_003036.4(SKI):c.2174A>G (p.Glu725Gly) GRCh37: Chr1:2238191 GRCh38: Chr1:2306752	SKI	E725G	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 214002922.	NM_003036.4(SKI):c.199_200delinsAA (p.Ala67Asn) GRCh37: Chr1:2160404-2160405 GRCh38: Chr1:2228965-2228966	SKI	A67N	Shprintzen-Goldberg syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 213729223.	NM_003036.4(SKI):c.1041C>G (p.Ser347=) GRCh37: Chr1:2234488 GRCh38: Chr1:2303049	SKI		Shprintzen-Goldberg syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 212245124.	NM_003036.4(SKI):c.2027A>G (p.His676Arg) GRCh37: Chr1:2238044 GRCh38: Chr1:2306605	SKI	H676R	Shprintzen-Goldberg syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 212090025.	NM_003036.4(SKI):c.1637G>T (p.Arg546Leu) GRCh37: Chr1:2235894 GRCh38: Chr1:2304455	SKI	R546L	Shprintzen-Goldberg syndrome	Uncertain significance (Apr 2, 2022)	criteria provided, single submitter
Select item 212010226.	NM_003036.4(SKI):c.1248G>T (p.Ala416=) GRCh37: Chr1:2235315 GRCh38: Chr1:2303876	SKI		Shprintzen-Goldberg syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 210937527.	NM_003036.4(SKI):c.1185A>G (p.Pro395=) GRCh37: Chr1:2234813 GRCh38: Chr1:2303374	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 210644828.	NM_003036.4(SKI):c.2006A>G (p.Asp669Gly) GRCh37: Chr1:2238023 GRCh38: Chr1:2306584	SKI	D669G	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 210456129.	NM_003036.4(SKI):c.423G>C (p.Ala141=) GRCh37: Chr1:2160628 GRCh38: Chr1:2229189	SKI		Shprintzen-Goldberg syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 209326230.	NM_003036.4(SKI):c.847G>A (p.Ala283Thr) GRCh37: Chr1:2161052 GRCh38: Chr1:2229613	SKI	A283T	Shprintzen-Goldberg syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 208679931.	NM_003036.4(SKI):c.1410C>A (p.Pro470=) GRCh37: Chr1:2235477 GRCh38: Chr1:2304038	SKI		Shprintzen-Goldberg syndrome	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 207481132.	NM_003036.4(SKI):c.2011C>G (p.Gln671Glu) GRCh37: Chr1:2238028 GRCh38: Chr1:2306589	SKI	Q671E	Shprintzen-Goldberg syndrome	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 207472433.	NM_003036.4(SKI):c.1211+9G>T GRCh37: Chr1:2234848 GRCh38: Chr1:2303409	SKI		Shprintzen-Goldberg syndrome	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 206662034.	NM_003036.4(SKI):c.1477A>T (p.Thr493Ser) GRCh37: Chr1:2235734 GRCh38: Chr1:2304295	SKI	T493S	Shprintzen-Goldberg syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 206557735.	NM_003036.4(SKI):c.937T>G (p.Tyr313Asp) GRCh37: Chr1:2161142 GRCh38: Chr1:2229703	SKI	Y313D	Shprintzen-Goldberg syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 206470536.	NM_003036.4(SKI):c.1166G>T (p.Ser389Ile) GRCh37: Chr1:2234794 GRCh38: Chr1:2303355	SKI	S389I	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206432537.	NM_003036.4(SKI):c.528C>T (p.Leu176=) GRCh37: Chr1:2160733 GRCh38: Chr1:2229294	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 205758738.	NM_003036.4(SKI):c.173_178dup (p.Ala59_Val60insAlaAla) GRCh37: Chr1:2160372-2160373 GRCh38: Chr1:2228933-2228934	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 205630139.	NM_003036.4(SKI):c.969+10C>T GRCh37: Chr1:2161184 GRCh38: Chr1:2229745	SKI		not specified, Shprintzen-Goldberg syndrome	Conflicting interpretations of pathogenicity (Jul 21, 2023)	criteria provided, conflicting interpretations
Select item 205470940.	NM_003036.4(SKI):c.1999-12G>T GRCh37: Chr1:2238004 GRCh38: Chr1:2306565	SKI		Shprintzen-Goldberg syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 205305941.	NM_003036.4(SKI):c.970-13dup GRCh37: Chr1:2234401-2234402 GRCh38: Chr1:2302962-2302963	SKI		Shprintzen-Goldberg syndrome	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 205113642.	NM_003036.4(SKI):c.1566C>G (p.Pro522=) GRCh37: Chr1:2235823 GRCh38: Chr1:2304384	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 204568743.	NM_003036.4(SKI):c.1715A>G (p.Lys572Arg) GRCh37: Chr1:2235972 GRCh38: Chr1:2304533	SKI	K572R	Shprintzen-Goldberg syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 203500844.	NM_003036.4(SKI):c.768G>T (p.Pro256=) GRCh37: Chr1:2160973 GRCh38: Chr1:2229534	SKI		Shprintzen-Goldberg syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 203446645.	NM_003036.4(SKI):c.1767+1G>C GRCh37: Chr1:2236025 GRCh38: Chr1:2304586	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 203234446.	NM_003036.4(SKI):c.1212-3C>T GRCh37: Chr1:2235276 GRCh38: Chr1:2303837	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 203074147.	NM_003036.4(SKI):c.1095G>A (p.Lys365=) GRCh37: Chr1:2234542 GRCh38: Chr1:2303103	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 202467148.	NM_003036.4(SKI):c.2169T>G (p.Ala723=) GRCh37: Chr1:2238186 GRCh38: Chr1:2306747	SKI		Shprintzen-Goldberg syndrome	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 202182449.	NM_003036.4(SKI):c.858G>A (p.Leu286=) GRCh37: Chr1:2161063 GRCh38: Chr1:2229624	SKI		Shprintzen-Goldberg syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201815350.	NM_003036.4(SKI):c.540G>C (p.Thr180=) GRCh37: Chr1:2160745 GRCh38: Chr1:2229306	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 200821451.	NM_003036.4(SKI):c.89G>A (p.Ser30Asn) GRCh37: Chr1:2160294 GRCh38: Chr1:2228855	SKI	S30N	Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200357452.	NM_003036.4(SKI):c.2081C>T (p.Ala694Val) GRCh37: Chr1:2238098 GRCh38: Chr1:2306659	SKI	A694V	Shprintzen-Goldberg syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 199993153.	NM_003036.4(SKI):c.780G>A (p.Val260=) GRCh37: Chr1:2160985 GRCh38: Chr1:2229546	SKI		Shprintzen-Goldberg syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 199401154.	NM_003036.4(SKI):c.1998+10T>C GRCh37: Chr1:2237699 GRCh38: Chr1:2306260	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 199160355.	NM_003036.4(SKI):c.117G>C (p.Ser39=) GRCh37: Chr1:2160322 GRCh38: Chr1:2228883	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 198212456.	NM_003036.4(SKI):c.1212-7C>T GRCh37: Chr1:2235272 GRCh38: Chr1:2303833	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 198164157.	NM_003036.4(SKI):c.2184G>A (p.Pro728=) GRCh37: Chr1:2238201 GRCh38: Chr1:2306762	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 197879758.	NM_003036.4(SKI):c.1512T>G (p.Phe504Leu) GRCh37: Chr1:2235769 GRCh38: Chr1:2304330	SKI	F504L	Shprintzen-Goldberg syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 197829959.	NM_003036.4(SKI):c.157A>C (p.Lys53Gln) GRCh37: Chr1:2160362 GRCh38: Chr1:2228923	SKI	K53Q	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 196950860.	NM_003036.4(SKI):c.414G>T (p.Gln138His) GRCh37: Chr1:2160619 GRCh38: Chr1:2229180	SKI	Q138H	Shprintzen-Goldberg syndrome	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 196493161.	NM_003036.4(SKI):c.2153C>T (p.Ala718Val) GRCh37: Chr1:2238170 GRCh38: Chr1:2306731	SKI	A718V	Shprintzen-Goldberg syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 196223662.	NM_003036.4(SKI):c.789G>T (p.Ser263=) GRCh37: Chr1:2160994 GRCh38: Chr1:2229555	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 195508263.	NM_003036.4(SKI):c.1208A>C (p.Asp403Ala) GRCh37: Chr1:2234836 GRCh38: Chr1:2303397	SKI	D403A	Shprintzen-Goldberg syndrome	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 194883464.	NM_003036.4(SKI):c.160G>A (p.Glu54Lys) GRCh37: Chr1:2160365 GRCh38: Chr1:2228926	SKI	E54K	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 194865765.	NM_003036.4(SKI):c.1999-7C>T GRCh37: Chr1:2238009 GRCh38: Chr1:2306570	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 30, 2022)	criteria provided, single submitter
Select item 194241866.	NM_003036.4(SKI):c.2076C>T (p.Arg692=) GRCh37: Chr1:2238093 GRCh38: Chr1:2306654	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 194159667.	NM_003036.4(SKI):c.1212-16C>T GRCh37: Chr1:2235263 GRCh38: Chr1:2303824	SKI		Shprintzen-Goldberg syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 194132568.	NM_003036.4(SKI):c.2068C>T (p.Arg690Trp) GRCh37: Chr1:2238085 GRCh38: Chr1:2306646	SKI	R690W	Shprintzen-Goldberg syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 193785769.	NM_003036.4(SKI):c.99C>T (p.Gly33=) GRCh37: Chr1:2160304 GRCh38: Chr1:2228865	SKI		Shprintzen-Goldberg syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 193272670.	NM_003036.4(SKI):c.1866G>C (p.Glu622Asp) GRCh37: Chr1:2237557 GRCh38: Chr1:2306118	SKI	E622D	Shprintzen-Goldberg syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 191463871.	NM_003036.4(SKI):c.903C>T (p.Gly301=) GRCh37: Chr1:2161108 GRCh38: Chr1:2229669	SKI		Shprintzen-Goldberg syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 190096272.	NM_003036.4(SKI):c.1350C>T (p.Thr450=) GRCh37: Chr1:2235417 GRCh38: Chr1:2303978	SKI		Shprintzen-Goldberg syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 189558773.	NM_003036.4(SKI):c.1408C>T (p.Pro470Ser) GRCh37: Chr1:2235475 GRCh38: Chr1:2304036	SKI	P470S	Shprintzen-Goldberg syndrome	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 189558674.	NM_003036.4(SKI):c.254T>G (p.Val85Gly) GRCh37: Chr1:2160459 GRCh38: Chr1:2229020	SKI	V85G	Shprintzen-Goldberg syndrome	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 178554175.	NM_003036.4(SKI):c.207G>A (p.Glu69=) GRCh37: Chr1:2160412 GRCh38: Chr1:2228973	SKI		Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178498176.	NM_003036.4(SKI):c.1076T>C (p.Leu359Ser) GRCh37: Chr1:2234523 GRCh38: Chr1:2303084	SKI	L359S	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178382077.	NM_003036.4(SKI):c.1981G>A (p.Ala661Thr) GRCh37: Chr1:2237672 GRCh38: Chr1:2306233	SKI	A661T	Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (May 21, 2022)	criteria provided, conflicting interpretations
Select item 178252878.	NM_003036.4(SKI):c.1913A>G (p.Lys638Arg) GRCh37: Chr1:2237604 GRCh38: Chr1:2306165	SKI	K638R	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Conflicting interpretations of pathogenicity (Sep 16, 2022)	criteria provided, conflicting interpretations
Select item 178151579.	NM_003036.4(SKI):c.1861G>A (p.Ala621Thr) GRCh37: Chr1:2237552 GRCh38: Chr1:2306113	SKI	A621T	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 178045480.	NM_003036.4(SKI):c.1061G>T (p.Ser354Ile) GRCh37: Chr1:2234508 GRCh38: Chr1:2303069	SKI	S354I	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178007581.	NM_003036.4(SKI):c.1785C>G (p.Arg595=) GRCh37: Chr1:2237476 GRCh38: Chr1:2306037	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177920382.	NM_003036.4(SKI):c.1741C>G (p.Leu581Val) GRCh37: Chr1:2235998 GRCh38: Chr1:2304559	SKI	L581V	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177902983.	NM_003036.4(SKI):c.1057T>C (p.Ser353Pro) GRCh37: Chr1:2234504 GRCh38: Chr1:2303065	SKI	S353P	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Conflicting interpretations of pathogenicity (Jun 6, 2022)	criteria provided, conflicting interpretations
Select item 177890884.	NM_003036.4(SKI):c.1728G>A (p.Lys576=) GRCh37: Chr1:2235985 GRCh38: Chr1:2304546	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Feb 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177864885.	NM_003036.4(SKI):c.1056G>A (p.Pro352=) GRCh37: Chr1:2234503 GRCh38: Chr1:2303064	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 177846286.	NM_003036.4(SKI):c.1706T>C (p.Met569Thr) GRCh37: Chr1:2235963 GRCh38: Chr1:2304524	SKI	M569T	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177286687.	NM_003036.4(SKI):c.1449G>A (p.Glu483=) GRCh37: Chr1:2235516 GRCh38: Chr1:2304077	SKI		Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 177241488.	NM_003036.4(SKI):c.1035G>A (p.Ala345=) GRCh37: Chr1:2234482 GRCh38: Chr1:2303043	SKI		Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 176993589.	NM_003036.4(SKI):c.1322G>A (p.Arg441Gln) GRCh37: Chr1:2235389 GRCh38: Chr1:2303950	SKI	R441Q	Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175429190.	NM_003036.4(SKI):c.657C>T (p.Arg219=) GRCh37: Chr1:2160862 GRCh38: Chr1:2229423	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175414291.	NM_003036.4(SKI):c.654C>T (p.Val218=) GRCh37: Chr1:2160859 GRCh38: Chr1:2229420	SKI		Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Likely benign (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172200792.	NM_003036.4(SKI):c.452C>G (p.Ser151Trp) GRCh37: Chr1:2160657 GRCh38: Chr1:2229218	SKI	S151W	Shprintzen-Goldberg syndrome	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 172037093.	NM_003036.4(SKI):c.599A>G (p.Lys200Arg) GRCh37: Chr1:2160804 GRCh38: Chr1:2229365	SKI	K200R	Shprintzen-Goldberg syndrome	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 171970394.	NM_003036.4(SKI):c.1592C>T (p.Pro531Leu) GRCh37: Chr1:2235849 GRCh38: Chr1:2304410	SKI	P531L	Shprintzen-Goldberg syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 171894695.	NM_003036.4(SKI):c.1015A>G (p.Thr339Ala) GRCh37: Chr1:2234462 GRCh38: Chr1:2303023	SKI	T339A	Shprintzen-Goldberg syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 170991496.	NM_003036.4(SKI):c.1415C>T (p.Ala472Val) GRCh37: Chr1:2235482 GRCh38: Chr1:2304043	SKI	A472V	Familial thoracic aortic aneurysm and aortic dissection, Shprintzen-Goldberg syndrome	Uncertain significance (Apr 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 170981297.	NM_003036.4(SKI):c.237C>G (p.Ile79Met) GRCh37: Chr1:2160442 GRCh38: Chr1:2229003	SKI	I79M	Shprintzen-Goldberg syndrome	Likely benign (Aug 17, 2021)	criteria provided, single submitter
Select item 170912798.	NM_003036.4(SKI):c.103C>G (p.Pro35Ala) GRCh37: Chr1:2160308 GRCh38: Chr1:2228869	SKI	P35A	Shprintzen-Goldberg syndrome	Likely pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 170164799.	NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) GRCh37: Chr1:2238065-2238066 GRCh38: Chr1:2306626-2306627	SKI		Shprintzen-Goldberg syndrome	Uncertain significance (Sep 26, 2021)	criteria provided, single submitter
Select item 1695374100.	NM_003036.4(SKI):c.350G>A (p.Gly117Asp) GRCh37: Chr1:2160555 GRCh38: Chr1:2229116	SKI	G117D	Shprintzen-Goldberg syndrome	Likely pathogenic (Jul 7, 2022)	no assertion criteria provided

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