9456[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155713	GRCh38/hg38 3q11.1-11.2(chr3:93800620-94792824)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 154124	GRCh38/hg38 3q11.1(chr3:93800621-93955268)x3	PROS1	Copy number gain	See cases	GUncertain significance
Select item 148990	GRCh38/hg38 3q11.1-11.2(chr3:93808831-94785647)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 144282	GRCh38/hg38 3q11.1-11.2(chr3:93856441-94708419)x3	ARL13B, DHFR2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154553	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94026979)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GUncertain significance
Select item 150280	GRCh38/hg38 3q11.1-11.2(chr3:93856445-94039745)x3	ARL13B, LOC123002313 +4 more	Copy number gain	See cases	GLikely benign
Select item 900650	NM_000313.3(PROS1):c.*1195C>G	PROS1	Single nucleotide variant	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900651	NM_000313.4(PROS1):c.*1186C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346865	NM_000313.4(PROS1):c.1167_1170del	PROS1	Deletion (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346866	NM_000313.4(PROS1):c.*1139C>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900652	NM_000313.4(PROS1):c.*1103A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 900653	NM_000313.4(PROS1):c.*1082A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900654	NM_000313.4(PROS1):c.*1046T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 900655	NM_000313.4(PROS1):c.*1014T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902332	NM_000313.4(PROS1):c.*992T>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 902333	NM_000313.4(PROS1):c.*972C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902334	NM_000313.4(PROS1):c.*887C>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346867	NM_000313.4(PROS1):c.*783C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 902335	NM_000313.4(PROS1):c.*737G>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346868	NM_000313.4(PROS1):c.*714T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346869	NM_000313.4(PROS1):c.*693G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 346870	NM_000313.4(PROS1):c.*686G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903194	NM_000313.4(PROS1):c.*550G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 346871	NM_000313.4(PROS1):c.*520A>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GBenign
Select item 903195	NM_000313.4(PROS1):c.*469A>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 903196	NM_000313.4(PROS1):c.*454G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 346872	NM_000313.4(PROS1):c.*422G>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903197	NM_000313.4(PROS1):c.*385A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 903198	NM_000313.4(PROS1):c.*380A>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 346873	NM_000313.4(PROS1):c.*370G>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346874	NM_000313.4(PROS1):c.*301A>G	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346875	NM_000313.4(PROS1):c.*221del	PROS1	Deletion (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 346876	NM_000313.4(PROS1):c.*197C>T	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely benign
Select item 346877	NM_000313.4(PROS1):c.*155T>A	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 346878	NM_000313.4(PROS1):c.*119T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 346879	NM_000313.4(PROS1):c.*86T>C	PROS1	Single nucleotide variant (3 prime UTR variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 472995	NC_000003.12:g.(?_93874239)_(94053268_?)del	LOC129937098, LOC129937099 +4 more	Deletion	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 870244	NM_000313.4(PROS1):c.1_2insSVAelement	PROS1	Insertion	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 3054560	NM_000313.4(PROS1):c.2031A>G (p.Ter677=)	PROS1	Single nucleotide variant (synonymous variant)	PROS1-related disorder	GLikely benign
Select item 13320	NM_000313.4(PROS1):c.2031A>T (p.Ter677Tyr)	PROS1	Single nucleotide variant (stop lost)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 581192	NM_000313.4(PROS1):c.2018C>A (p.Thr673Lys)	PROS1 (T705K +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 346880	NM_000313.4(PROS1):c.2003C>T (p.Ser668Leu)	PROS1 (S668L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1523041	NM_000313.4(PROS1):c.2000_2001inv (p.Pro667Leu)	PROS1 (P699L +1 more)	Inversion (missense variant)	PROS1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 255811	NM_000313.4(PROS1):c.2001A>G (p.Pro667=)	PROS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 567962	NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)	PROS1 (C698* +1 more)	Single nucleotide variant (nonsense)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 627030	NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg)	PROS1 (C666R +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GPathogenic
Select item 2734544	NM_000313.4(PROS1):c.1994C>T (p.Ser665Leu)	PROS1 (S665L +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 472998	NM_000313.4(PROS1):c.1991dup (p.His664fs)	PROS1 (H664fs +1 more)	Duplication (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 2580615	NM_000313.4(PROS1):c.1990C>T (p.His664Tyr)	PROS1 (H664Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017210	NM_000313.4(PROS1):c.1981A>G (p.Ile661Val)	PROS1 (I661V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 1999459	NM_000313.4(PROS1):c.1977del (p.Asn659fs)	PROS1 (N659fs +1 more)	Deletion (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 627026	NM_000313.4(PROS1):c.1973A>G (p.His658Arg)	PROS1 (H658R +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease	GUncertain significance
Select item 2635457	NM_000313.4(PROS1):c.1960G>A (p.Ala654Thr)	PROS1 (A654T +1 more)	Single nucleotide variant (missense variant)	PROS1-related disorder	GUncertain significance
Select item 640936	NM_000313.4(PROS1):c.1956T>G (p.Asp652Glu)	PROS1 (D652E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2683269	NM_000313.4(PROS1):c.1954G>T (p.Asp652Tyr)	PROS1 (D652Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2822331	NM_000313.4(PROS1):c.1938T>A (p.Gly646=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1113086	NM_000313.4(PROS1):c.1938T>C (p.Gly646=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 3219076	NM_000313.4(PROS1):c.1937G>A (p.Gly646Asp)	PROS1 (G646D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371590	NM_000313.4(PROS1):c.1936G>T (p.Gly646Cys)	PROS1 (G678C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 941623	NM_000313.4(PROS1):c.1919T>C (p.Met640Thr)	PROS1 (M640T +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 2572141	NM_000313.4(PROS1):c.1916G>T (p.Cys639Phe)	PROS1 (C639F +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 627025	NM_000313.4(PROS1):c.1916G>A (p.Cys639Tyr)	PROS1 (C639Y +1 more)	Single nucleotide variant (missense variant)	Protein S deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 627024	NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer)	PROS1	Deletion (nonsense)	Protein S deficiency disease	GPathogenic
Select item 161348	NM_000313.4(PROS1):c.1907A>G (p.Tyr636Cys)	PROS1 (Y636C +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1064419	NM_000313.4(PROS1):c.1904T>C (p.Phe635Ser)	PROS1 (F635S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 416409	NM_000313.4(PROS1):c.1902C>T (p.Ala634=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1476728	NM_000313.4(PROS1):c.1891C>T (p.Pro631Ser)	PROS1 (P663S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 899589	NM_000313.4(PROS1):c.1889C>T (p.Thr630Ile)	PROS1 (T630I +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 3007153	NM_000313.4(PROS1):c.1878A>G (p.Pro626=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 900727	NM_000313.4(PROS1):c.1876C>T (p.Pro626Ser)	PROS1 (P658S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 1406689	NM_000313.4(PROS1):c.1871-1G>A	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 1068259	NM_000313.4(PROS1):c.1871-2A>G	PROS1	Single nucleotide variant (splice acceptor variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GPathogenic
Select item 801989	NM_000313.4(PROS1):c.1871-14T>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 2709649	NM_000313.4(PROS1):c.1871-18A>G	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1290540	NM_000313.4(PROS1):c.1871-263C>T	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181602	NM_000313.4(PROS1):c.1870+195A>T	PROS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2986573	NM_000313.4(PROS1):c.1870+13T>C	PROS1	Single nucleotide variant (intron variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1330283	NM_000313.4(PROS1):c.1870+1G>C	PROS1	Single nucleotide variant (splice donor variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 2886068	NM_000313.4(PROS1):c.1866T>C (p.Leu622=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1302468	NM_000313.4(PROS1):c.1865T>C (p.Leu622Pro)	PROS1 (L622P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623125	NM_000313.4(PROS1):c.1863C>T (p.Gly621=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1677268	NM_000313.4(PROS1):c.1862G>T (p.Gly621Val)	PROS1 (G621V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GLikely pathogenic
Select item 1676813	NM_000313.4(PROS1):c.1861G>A (p.Gly621Ser)	PROS1 (G621S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027054	NM_000313.4(PROS1):c.1857G>A (p.Leu619=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1719598	NM_000313.4(PROS1):c.1856T>C (p.Leu619Pro)	PROS1 (L619P +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1488865	NM_000313.4(PROS1):c.1849A>G (p.Thr617Ala)	PROS1 (T649A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2853093	NM_000313.4(PROS1):c.1847C>T (p.Ala616Val)	PROS1 (A616V +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 2890189	NM_000313.4(PROS1):c.1840A>G (p.Lys614Glu)	PROS1 (K646E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 1503626	NM_000313.4(PROS1):c.1832T>C (p.Met611Thr)	PROS1 (M611T +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 1065561	NM_000313.4(PROS1):c.1820T>C (p.Leu607Ser)	PROS1 (L607S +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GUncertain significance
Select item 220400	NM_000313.4(PROS1):c.1816G>A (p.Val606Ile)	PROS1 (V638I +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GUncertain significance
Select item 1122256	NM_000313.4(PROS1):c.1815C>T (p.Ala605=)	PROS1	Single nucleotide variant (synonymous variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GLikely benign
Select item 1312442	NM_000313.4(PROS1):c.1811T>G (p.Leu604Arg)	PROS1 (L604R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive +1 more	GUncertain significance
Select item 2762840	NM_000313.4(PROS1):c.1802A>G (p.Gln601Arg)	PROS1 (Q601R +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal recessive	GUncertain significance
Select item 872082	NM_000313.4(PROS1):c.1774A>C (p.Ile592Leu)	PROS1 (I624L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684341	NM_000313.4(PROS1):c.1764_1765del (p.Pro589fs)	PROS1 (P589fs +1 more)	Microsatellite (frameshift variant)	Thrombophilia due to protein S deficiency, autosomal dominant	GPathogenic
Select item 161344	NM_000313.4(PROS1):c.1762A>G (p.Thr588Ala)	PROS1 (T588A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia due to protein S deficiency, autosomal dominant +1 more	GConflicting classifications of pathogenicity

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