ClinVar for Gene (Select 10653) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169180	NM_021102.4(SPINT2):c.212G>A (p.Cys71Tyr)	SPINT2 (C71Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 3062101	NM_021102.4(SPINT2):c.166_167dup (p.Asn57fs)	SPINT2 (N57fs)	Duplication (frameshift variant +1 more)	Congenital secretory sodium diarrhea 3	GPathogenic
Select item 3021236	NM_021102.4(SPINT2):c.593-17C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002024	NM_021102.4(SPINT2):c.107-19G>A	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999911	NM_021102.4(SPINT2):c.177T>C (p.Thr59=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992500	NM_021102.4(SPINT2):c.399C>T (p.Cys133=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991322	NM_021102.4(SPINT2):c.338-17A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983307	NM_021102.4(SPINT2):c.553+15C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981133	NM_021102.4(SPINT2):c.81G>T (p.Ala27=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965250	NM_021102.4(SPINT2):c.88C>A (p.Arg30=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900504	NM_021102.4(SPINT2):c.235C>T (p.Leu79=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2884813	NM_021102.4(SPINT2):c.409G>A (p.Ala137Thr)	SPINT2 (A137T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878720	NM_021102.4(SPINT2):c.447G>T (p.Trp149Cys)	SPINT2 (W149C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876972	NM_021102.4(SPINT2):c.417T>G (p.Thr139=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870264	NM_021102.4(SPINT2):c.143G>A (p.Arg48Gln)	SPINT2 (R48Q)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2867721	NM_021102.4(SPINT2):c.391+16G>A	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847868	NM_021102.4(SPINT2):c.592+15A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839544	NM_021102.4(SPINT2):c.186C>A (p.Ser62=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819038	NM_021102.4(SPINT2):c.277+10C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805783	NM_021102.4(SPINT2):c.222C>T (p.Asn74=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2797572	NM_021102.4(SPINT2):c.45C>T (p.Ala15=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797316	NM_021102.4(SPINT2):c.453T>C (p.Phe151=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794055	NM_021102.4(SPINT2):c.699C>A (p.Arg233=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792846	NM_021102.4(SPINT2):c.278-16C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770381	NM_021102.4(SPINT2):c.180C>T (p.Asp60=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2729531	NM_021102.4(SPINT2):c.553+18C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708938	NM_021102.4(SPINT2):c.593-11C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706476	NM_021102.4(SPINT2):c.277+18_277+29del	SPINT2	Deletion (intron variant)	not provided	GLikely benign
Select item 2690070	NM_021102.4(SPINT2):c.122C>T (p.Ser41Leu)	SPINT2 (S41L)	Single nucleotide variant (missense variant +1 more)	Congenital secretory sodium diarrhea 3	GUncertain significance
Select item 2500740	NM_021102.4(SPINT2):c.421C>G (p.Pro141Ala)	SPINT2 (P141A +1 more)	Single nucleotide variant (missense variant)	Congenital secretory sodium diarrhea 3	GLikely pathogenic
Select item 2459754	NM_021102.4(SPINT2):c.615C>A (p.Phe205Leu)	SPINT2 (F148L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 2290500	NM_021102.4(SPINT2):c.283G>A (p.Ala95Thr)	SPINT2 (A38T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2257615	NM_021102.4(SPINT2):c.428G>A (p.Arg143His)	SPINT2 (R86H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254549	NM_021102.4(SPINT2):c.741G>T (p.Lys247Asn)	SPINT2 (K190N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238914	NM_021102.4(SPINT2):c.403G>A (p.Ala135Thr)	SPINT2 (A135T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200440	NM_021102.4(SPINT2):c.330C>G (p.Val110=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177179	NM_021102.4(SPINT2):c.402C>T (p.Thr134=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116627	NM_021102.4(SPINT2):c.604G>A (p.Ala202Thr)	SPINT2 (A202T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113265	NM_021102.4(SPINT2):c.288G>T (p.Thr96=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105198	NM_021102.4(SPINT2):c.277+3G>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2105197	NM_021102.4(SPINT2):c.277+2dup	SPINT2	Duplication (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2084400	NM_021102.4(SPINT2):c.664C>T (p.Arg222Trp)	SPINT2 (R165W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082743	NM_021102.4(SPINT2):c.144G>T (p.Arg48=)	SPINT2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2082564	NM_021102.4(SPINT2):c.338-14T>C	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080133	NM_021102.4(SPINT2):c.123G>C (p.Ser41=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2078470	NM_021102.4(SPINT2):c.696G>T (p.Leu232=)	SPINT2	Single nucleotide variant (synonymous variant)	SPINT2-related disorder +1 more	GLikely benign
Select item 2076181	NM_021102.4(SPINT2):c.500G>A (p.Arg167Gln)	SPINT2 (R167Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062668	NM_021102.4(SPINT2):c.86A>G (p.Asp29Gly)	SPINT2 (D29G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059334	NM_021102.4(SPINT2):c.654C>T (p.Val218=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030859	NM_021102.4(SPINT2):c.391+17G>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027956	NM_021102.4(SPINT2):c.593-13C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2025807	NM_021102.4(SPINT2):c.396C>T (p.Tyr132=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008455	NM_021102.4(SPINT2):c.292G>A (p.Asp98Asn)	SPINT2 (D41N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978000	NM_021102.4(SPINT2):c.142C>T (p.Arg48Trp)	SPINT2 (R48W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1975811	NM_021102.4(SPINT2):c.593-18C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964985	NM_021102.4(SPINT2):c.714C>T (p.Ser238=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964922	NM_021102.4(SPINT2):c.130G>A (p.Val44Met)	SPINT2 (V44M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1962628	NM_021102.4(SPINT2):c.606G>T (p.Ala202=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947223	NM_021102.4(SPINT2):c.75C>A (p.Val25=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943857	NM_021102.4(SPINT2):c.553+1G>A	SPINT2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1941483	NM_021102.4(SPINT2):c.392-4C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941268	NM_021102.4(SPINT2):c.391+10C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936006	NM_021102.4(SPINT2):c.278-2A>G	SPINT2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1932960	NM_021102.4(SPINT2):c.191A>G (p.Gln64Arg)	SPINT2 (Q64R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931148	NM_021102.4(SPINT2):c.593-11C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928693	NM_021102.4(SPINT2):c.553+13C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924910	NM_021102.4(SPINT2):c.654C>G (p.Val218=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911306	NM_021102.4(SPINT2):c.592+18C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904584	NM_021102.4(SPINT2):c.592+17C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896533	NM_021102.4(SPINT2):c.593-8G>A	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810622	NM_021102.4(SPINT2):c.342del (p.Arg115fs)	SPINT2 (R58fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1810227	NM_021102.4(SPINT2):c.442C>T (p.Arg148Cys)	SPINT2 (R148C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1669983	NM_021102.4(SPINT2):c.393A>G (p.Glu131=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1668723	NM_021102.4(SPINT2):c.392-15C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667382	NM_021102.4(SPINT2):c.107-10C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666803	NM_021102.4(SPINT2):c.129G>A (p.Val43=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	SPINT2-related disorder +1 more	GLikely benign
Select item 1660736	NM_021102.4(SPINT2):c.387T>C (p.Tyr129=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656522	NM_021102.4(SPINT2):c.141C>T (p.Cys47=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1652183	NM_021102.4(SPINT2):c.240C>G (p.Thr80=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1648181	NM_021102.4(SPINT2):c.408C>T (p.Asn136=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647956	NM_021102.4(SPINT2):c.553+11A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641438	NM_021102.4(SPINT2):c.663C>A (p.Ile221=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638755	NM_021102.4(SPINT2):c.391+13A>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633898	NM_021102.4(SPINT2):c.554-16G>A	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633743	NM_021102.4(SPINT2):c.593-15C>G	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631357	NM_021102.4(SPINT2):c.592+20C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631308	NM_021102.4(SPINT2):c.337+20C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1614493	NM_021102.4(SPINT2):c.474C>T (p.Cys158=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1612544	NM_021102.4(SPINT2):c.171T>C (p.Asn57=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1612025	NM_021102.4(SPINT2):c.601C>T (p.Leu201=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1592276	NM_021102.4(SPINT2):c.168C>T (p.Tyr56=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1591568	NM_021102.4(SPINT2):c.689G>A (p.Arg230His)	SPINT2 (R173H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1576353	NM_021102.4(SPINT2):c.456C>T (p.Asp152=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575846	NM_021102.4(SPINT2):c.277+18G>A	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573260	NM_021102.4(SPINT2):c.554-7C>T	SPINT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1572231	NM_021102.4(SPINT2):c.702C>T (p.Thr234=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545945	NM_021102.4(SPINT2):c.216C>T (p.Asp72=)	SPINT2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1545086	NM_021102.4(SPINT2):c.546C>T (p.Arg182=)	SPINT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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