80270[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 150706	GRCh38/hg38 16p11.2(chr16:30960404-31066796)x1	HSD3B7, LOC130058885 +6 more	Copy number loss	See cases	GLikely benign
Select item 1281644	NM_025193.4(HSD3B7):c.-7+177C>T	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1225980	NM_025193.4(HSD3B7):c.-6-103C>G	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1249803	NM_025193.4(HSD3B7):c.-6-102G>C	HSD3B7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 597516	NM_025193.4(HSD3B7):c.-6-1_-6delinsTT	HSD3B7	Indel (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3046841	NM_025193.4(HSD3B7):c.6C>A (p.Ala2=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 594048	NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn)	HSD3B7 (D3N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 502323	NM_025193.4(HSD3B7):c.40G>T (p.Val14Phe)	HSD3B7 (V14F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2885	NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)	HSD3B7 (G17fs)	Deletion (frameshift variant)	HSD3B7-related disorder +2 more	GPathogenic
Select item 284323	NM_025193.4(HSD3B7):c.71A>G (p.His24Arg)	HSD3B7 (H24R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2980208	NM_025193.4(HSD3B7):c.72C>T (p.His24=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543535	NM_025193.4(HSD3B7):c.80G>A (p.Arg27Gln)	HSD3B7 (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594093	NM_025193.4(HSD3B7):c.94C>T (p.Arg32Trp)	HSD3B7 (R32W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524743	NM_025193.4(HSD3B7):c.103C>T (p.Arg35Trp)	HSD3B7 (R35W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 195382	NM_025193.4(HSD3B7):c.103C>G (p.Arg35Gly)	HSD3B7 (R35G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2213410	NM_025193.4(HSD3B7):c.104G>A (p.Arg35Gln)	HSD3B7 (R35Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031765	NM_025193.4(HSD3B7):c.108C>T (p.Leu36=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 497621	NM_025193.4(HSD3B7):c.129C>G (p.Asp43Glu)	HSD3B7 (D43E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3107180	NM_025193.4(HSD3B7):c.135C>G (p.His45Gln)	HSD3B7 (H45Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432539	NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg)	HSD3B7 (P48R)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 593800	NM_025193.4(HSD3B7):c.166+1G>A	HSD3B7	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 286803	NM_025193.4(HSD3B7):c.166+7G>T	HSD3B7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261872	NM_025193.4(HSD3B7):c.167-7C>T	HSD3B7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261871	NM_025193.4(HSD3B7):c.167-7C>A	HSD3B7	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 196526	NM_025193.4(HSD3B7):c.167-6G>A	HSD3B7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3061132	NM_025193.4(HSD3B7):c.186C>A (p.Ala62=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 3107181	NM_025193.4(HSD3B7):c.190C>G (p.Gln64Glu)	HSD3B7 (Q64E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 498040	NM_025193.4(HSD3B7):c.196del (p.Asp66fs)	HSD3B7 (D66fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2585402	NM_025193.4(HSD3B7):c.205C>T (p.Gln69Ter)	HSD3B7 (Q69*)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 596758	NM_025193.4(HSD3B7):c.226G>C (p.Ala76Pro)	HSD3B7 (A76P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595962	NM_025193.4(HSD3B7):c.226G>A (p.Ala76Thr)	HSD3B7 (A76T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498317	NM_025193.4(HSD3B7):c.234C>T (p.Ala78=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 499368	NM_025193.4(HSD3B7):c.257C>T (p.Thr86Met)	HSD3B7 (T86M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 593982	NM_025193.4(HSD3B7):c.263G>C (p.Gly88Ala)	HSD3B7 (G88A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593981	NM_025193.4(HSD3B7):c.268_281del (p.Val90fs)	HSD3B7 (V90fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 597413	NM_025193.4(HSD3B7):c.273C>T (p.Asp91=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1441258	NM_025193.4(HSD3B7):c.284G>A (p.Arg95Lys)	HSD3B7 (R95K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882	NM_025193.4(HSD3B7):c.294dup (p.Lys99fs)	HSD3B7 (K99fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 497768	NM_025193.4(HSD3B7):c.302T>C (p.Ile101Thr)	HSD3B7 (I101T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883	NM_025193.4(HSD3B7):c.322+1G>T	HSD3B7	Single nucleotide variant (splice donor variant)	Congenital bile acid synthesis defect 1	GPathogenic
Select item 1987839	NM_025193.4(HSD3B7):c.323-14T>G	HSD3B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 595018	NM_025193.4(HSD3B7):c.323-3C>A	HSD3B7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2528842	NM_025193.4(HSD3B7):c.323G>T (p.Gly108Val)	HSD3B7 (G108V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683357	NM_025193.4(HSD3B7):c.328C>T (p.Arg110Trp)	HSD3B7 (R110W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 291021	NM_025193.4(HSD3B7):c.329G>A (p.Arg110Gln)	HSD3B7 (R110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596106	NM_025193.4(HSD3B7):c.331A>C (p.Asn111His)	HSD3B7 (N111H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551789	NM_025193.4(HSD3B7):c.333C>T (p.Asn111=)	HSD3B7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3058145	NM_025193.4(HSD3B7):c.351G>A (p.Val117=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 286887	NM_025193.4(HSD3B7):c.357C>T (p.Thr119=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 595265	NM_025193.4(HSD3B7):c.365G>A (p.Arg122Gln)	HSD3B7 (R122Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107182	NM_025193.4(HSD3B7):c.367T>C (p.Phe123Leu)	HSD3B7 (F123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 391606	NM_025193.4(HSD3B7):c.385A>G (p.Ser129Gly)	HSD3B7 (S129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049549	NM_025193.4(HSD3B7):c.387C>T (p.Ser129=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 597244	NM_025193.4(HSD3B7):c.388A>G (p.Met130Val)	HSD3B7 (M130V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107183	NM_025193.4(HSD3B7):c.394G>A (p.Val132Ile)	HSD3B7 (V132I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949683	NM_025193.4(HSD3B7):c.397G>A (p.Val133Met)	HSD3B7 (V133M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029630	NM_025193.4(HSD3B7):c.423C>A (p.Pro141=)	HSD3B7	Single nucleotide variant (synonymous variant)	HSD3B7-related disorder	GLikely benign
Select item 2091027	NM_025193.4(HSD3B7):c.426C>T (p.Phe142=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671755	NM_025193.4(HSD3B7):c.431+2T>C	HSD3B7	Single nucleotide variant (splice donor variant)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 497968	NM_025193.4(HSD3B7):c.431+7_431+8insA	HSD3B7	Insertion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1925048	NM_025193.4(HSD3B7):c.432-14T>C	HSD3B7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3030510	NM_025193.4(HSD3B7):c.432-3C>T	HSD3B7	Single nucleotide variant (intron variant)	HSD3B7-related disorder	GLikely benign
Select item 2884	NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)	HSD3B7 (E147K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 593957	NM_025193.4(HSD3B7):c.453del (p.Pro150_Tyr151insTer)	HSD3B7	Deletion (nonsense)	not provided	GPathogenic
Select item 499253	NM_025193.4(HSD3B7):c.454G>A (p.Glu152Lys)	HSD3B7 (E152K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 502689	NM_025193.4(HSD3B7):c.498C>T (p.Ala166=)	HSD3B7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1030914	NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter)	HSD3B7 (E167*)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 1 +1 more	GPathogenic
Select item 593673	NM_025193.4(HSD3B7):c.521A>G (p.Asn174Ser)	HSD3B7 (N174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977130	NM_025193.4(HSD3B7):c.531+1G>A	HSD3B7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3056176	NM_025193.4(HSD3B7):c.531+9A>C	HSD3B7	Single nucleotide variant (intron variant)	HSD3B7-related disorder	GLikely benign
Select item 1268603	NM_025193.4(HSD3B7):c.532-9T>C	HSD3B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2761603	NM_025193.4(HSD3B7):c.532-2A>G	HSD3B7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 498439	NM_025193.4(HSD3B7):c.535C>T (p.Arg179Cys)	HSD3B7 (R179C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2285821	NM_025193.4(HSD3B7):c.536G>A (p.Arg179His)	HSD3B7 (R179H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2867965	NM_025193.4(HSD3B7):c.542G>A (p.Gly181Glu)	HSD3B7 (G181E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1030915	NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met)	HSD3B7 (T186M)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 598247	NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	HSD3B7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 594920	NM_025193.4(HSD3B7):c.565C>T (p.Leu189Phe)	HSD3B7 (L189F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582473	NM_025193.4(HSD3B7):c.569G>A (p.Arg190His)	HSD3B7 (R190H)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 501473	NM_025193.4(HSD3B7):c.576G>A (p.Thr192=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2900545	NM_025193.4(HSD3B7):c.585C>T (p.Tyr195=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 290373	NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser)	HSD3B7 (G196S)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1 +1 more	GUncertain significance
Select item 2320905	NM_025193.4(HSD3B7):c.593G>A (p.Gly198Asp)	HSD3B7 (G198D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 501857	NM_025193.4(HSD3B7):c.608G>A (p.Arg203Lys)	HSD3B7 (R203K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2030273	NM_025193.4(HSD3B7):c.611del (p.Asp204fs)	HSD3B7 (D204fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2909894	NM_025193.4(HSD3B7):c.618C>T (p.Tyr206=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2697513	NM_025193.4(HSD3B7):c.618C>G (p.Tyr206Ter)	HSD3B7 (Y206*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2755381	NM_025193.4(HSD3B7):c.630G>A (p.Leu210=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 198266	NM_025193.4(HSD3B7):c.637G>A (p.Gly213Arg)	HSD3B7 (G213R)	Single nucleotide variant (missense variant +1 more)	HSD3B7-related disorder +2 more	GUncertain significance
Select item 391611	NM_025193.4(HSD3B7):c.652C>T (p.Arg218Trp)	HSD3B7 (R218W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2400062	NM_025193.4(HSD3B7):c.653G>A (p.Arg218Gln)	HSD3B7 (R218Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405171	NM_025193.4(HSD3B7):c.656C>T (p.Ala219Val)	HSD3B7 (A219V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371809	NM_025193.4(HSD3B7):c.662C>T (p.Pro221Leu)	HSD3B7 (P221L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 502643	NM_025193.4(HSD3B7):c.671T>C (p.Val224Ala)	HSD3B7 (V224A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1687377	NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp)	HSD3B7 (R228W)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1339161	NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys)	HSD3B7 (Y230C)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance

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