9791[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 60387	GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1	CPQ, DPY19L4 +139 more	Copy number loss	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1292007	NM_015942.5(MTERF3):c.-111G>C	MTERF3, PTDSS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241733	NC_000008.11:g.96261750A>C	PTDSS1	Single nucleotide variant	not provided	GBenign
Select item 1274469	NC_000008.11:g.96261759A>G	PTDSS1	Single nucleotide variant	not provided	GBenign
Select item 2086632	NM_014754.3(PTDSS1):c.12C>T (p.Cys4=)	PTDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796376	NM_014754.3(PTDSS1):c.27C>T (p.Thr9=)	PTDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2096150	NM_014754.3(PTDSS1):c.53A>G (p.Lys18Arg)	PTDSS1 (K18R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872021	NM_014754.3(PTDSS1):c.56T>C (p.Met19Thr)	PTDSS1 (M19T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2002100	NM_014754.3(PTDSS1):c.72C>T (p.Ile24=)	PTDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1500463	NM_014754.3(PTDSS1):c.98C>G (p.Thr33Ser)	PTDSS1 (T33S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1450397	NM_014754.3(PTDSS1):c.113A>C (p.Tyr38Ser)	PTDSS1 (Y38S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1397816	NM_014754.3(PTDSS1):c.116G>A (p.Arg39Gln)	PTDSS1 (R39Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2998994	NM_014754.3(PTDSS1):c.148A>G (p.Ile50Val)	PTDSS1 (I50V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2867932	NM_014754.3(PTDSS1):c.150C>G (p.Ile50Met)	PTDSS1 (I50M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2888324	NM_014754.3(PTDSS1):c.168C>A (p.Phe56Leu)	PTDSS1 (F56L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1512032	NM_014754.3(PTDSS1):c.179+5G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2129523	NM_014754.3(PTDSS1):c.179+11C>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228596	NM_014754.3(PTDSS1):c.180-98G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2055580	NM_014754.3(PTDSS1):c.180-16G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537564	NM_014754.3(PTDSS1):c.180-9T>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1441319	NM_014754.3(PTDSS1):c.180-3C>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 730485	NM_014754.3(PTDSS1):c.214G>A (p.Gly72Ser)	PTDSS1 (G72S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1666349	NM_014754.3(PTDSS1):c.231T>C (p.Ile77=)	PTDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 930583	NM_014754.3(PTDSS1):c.247A>C (p.Ile83Leu)	PTDSS1 (I83L)	Single nucleotide variant (5 prime UTR variant +1 more)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 2992751	NM_014754.3(PTDSS1):c.248T>C (p.Ile83Thr)	PTDSS1 (I83T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2960331	NM_014754.3(PTDSS1):c.255G>A (p.Val85=)	PTDSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2693252	NM_014754.3(PTDSS1):c.269A>G (p.Asn90Ser)	PTDSS1 (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 776364	NM_014754.3(PTDSS1):c.270T>C (p.Asn90=)	PTDSS1 (M1T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1958312	NM_014754.3(PTDSS1):c.271+10G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112943	NM_014754.3(PTDSS1):c.271+16C>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274261	NM_014754.3(PTDSS1):c.271+224G>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268694	NM_014754.3(PTDSS1):c.272-292A>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272912	NM_014754.3(PTDSS1):c.272-187G>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604762	NM_014754.3(PTDSS1):c.272-13T>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582475	NM_014754.3(PTDSS1):c.275C>T (p.Pro92Leu)	PTDSS1 (P92L)	Single nucleotide variant (missense variant +1 more)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 1981533	NM_014754.3(PTDSS1):c.276G>A (p.Pro92=)	PTDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 429519	NM_014754.3(PTDSS1):c.284G>A (p.Arg95Gln)	PTDSS1 (R95Q)	Single nucleotide variant (missense variant +1 more)	Lenz-Majewski hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1924672	NM_014754.3(PTDSS1):c.305G>A (p.Arg102Gln)	PTDSS1 (R102Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1656815	NM_014754.3(PTDSS1):c.316+13T>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965679	NM_014754.3(PTDSS1):c.316+15G>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895560	NM_014754.3(PTDSS1):c.316+15G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230650	NM_014754.3(PTDSS1):c.316+186C>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275314	NM_014754.3(PTDSS1):c.317-294T>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241364	NM_014754.3(PTDSS1):c.317-182G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 813547	NM_014754.3(PTDSS1):c.334T>G (p.Phe112Val)	PTDSS1 (F112V)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 731736	NM_014754.3(PTDSS1):c.369C>G (p.Phe123Leu)	PTDSS1 (F123L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2701656	NM_014754.3(PTDSS1):c.373C>G (p.Gln125Glu)	PTDSS1 (Q125E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1909191	NM_014754.3(PTDSS1):c.385C>G (p.Leu129Val)	PTDSS1 (L129V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1901454	NM_014754.3(PTDSS1):c.391T>C (p.Tyr131His)	PTDSS1 (Y131H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190722	NM_014754.3(PTDSS1):c.399A>G (p.Leu133=)	PTDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 870213	NM_014754.3(PTDSS1):c.409C>T (p.Leu137Phe)	PTDSS1 (L137F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2962111	NM_014754.3(PTDSS1):c.413G>A (p.Arg138Gln)	PTDSS1 (R138Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 713161	NM_014754.3(PTDSS1):c.417C>T (p.Tyr139=)	PTDSS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2324610	NM_014754.3(PTDSS1):c.418G>A (p.Ala140Thr)	PTDSS1 (A140T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 383736	NM_014754.3(PTDSS1):c.421A>G (p.Thr141Ala)	PTDSS1 (T141A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2074652	NM_014754.3(PTDSS1):c.422C>A (p.Thr141Lys)	PTDSS1 (T141K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912469	NM_014754.3(PTDSS1):c.441+8C>T	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632598	NM_014754.3(PTDSS1):c.441+16T>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969207	NM_014754.3(PTDSS1):c.442-20C>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660419	NM_014754.3(PTDSS1):c.442-19T>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582127	NM_014754.3(PTDSS1):c.442G>C (p.Glu148Gln)	PTDSS1 (E148Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579498	NM_014754.3(PTDSS1):c.473G>A (p.Trp158Ter)	PTDSS1 (W12* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1962608	NM_014754.3(PTDSS1):c.534G>A (p.Met178Ile)	PTDSS1 (M32I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1515046	NM_014754.3(PTDSS1):c.544C>G (p.Leu182Val)	PTDSS1 (L36V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010370	NM_014754.3(PTDSS1):c.559G>A (p.Gly187Ser)	PTDSS1 (G187S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 741520	NM_014754.3(PTDSS1):c.591G>A (p.Glu197=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1504176	NM_014754.3(PTDSS1):c.600+6_600+8del	PTDSS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1567921	NM_014754.3(PTDSS1):c.600+6A>G	PTDSS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2811803	NM_014754.3(PTDSS1):c.600+11G>C	PTDSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240592	NM_014754.3(PTDSS1):c.601-92A>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2977630	NM_014754.3(PTDSS1):c.601-20T>G	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1633932	NM_014754.3(PTDSS1):c.603C>G (p.Leu201=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725341	NM_014754.3(PTDSS1):c.613C>A (p.His205Asn)	PTDSS1 (H59N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2967467	NM_014754.3(PTDSS1):c.626A>G (p.Asn209Ser)	PTDSS1 (N209S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954783	NM_014754.3(PTDSS1):c.633C>T (p.Ala211=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974092	NM_014754.3(PTDSS1):c.634G>A (p.Glu212Lys)	PTDSS1 (E212K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911250	NM_014754.3(PTDSS1):c.666C>T (p.Ile222=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517413	NM_014754.3(PTDSS1):c.678T>A (p.Asn226Lys)	PTDSS1 (N226K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2248543	NM_014754.3(PTDSS1):c.685G>A (p.Gly229Ser)	PTDSS1 (G229S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441809	NM_014754.3(PTDSS1):c.686G>A (p.Gly229Asp)	PTDSS1 (G229D +1 more)	Single nucleotide variant (missense variant)	Lenz-Majewski hyperostosis syndrome	GUncertain significance
Select item 2883585	NM_014754.3(PTDSS1):c.705C>T (p.Val235=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398734	NM_014754.3(PTDSS1):c.706G>A (p.Val236Ile)	PTDSS1 (V90I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1374142	NM_014754.3(PTDSS1):c.713G>A (p.Arg238Gln)	PTDSS1 (R238Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788684	NM_014754.3(PTDSS1):c.720A>G (p.Leu240=)	PTDSS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220652	NM_014754.3(PTDSS1):c.738C>G (p.His246Gln)	PTDSS1 (H100Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1249630	NM_014754.3(PTDSS1):c.753-255G>A	PTDSS1	Single nucleotide variant (intron variant)	not provided	GBenign

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