79581[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 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 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	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 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 57047	GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3	ADCK5, ARHGAP39 +120 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2658979	NM_031309.6(SCRT1):c.231G>A (p.Leu77=)	SCRT1, SLC52A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 151550	GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3	ADCK5, ARHGAP39 +58 more	Copy number gain	See cases	GLikely benign
Select item 2658981	NM_012162.4(FBXL6):c.662G>T (p.Arg221Leu)	FBXL6, SLC52A2 (R215L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1248065	NM_001363118.2(SLC52A2):c.-542C>A	LOC130001389, SLC52A2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1246665	NM_001363118.2(SLC52A2):c.-111+15A>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194122	NM_001363118.2(SLC52A2):c.-110-35C>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 489081	NM_001363118.2(SLC52A2):c.-110-7T>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 380872	NM_001363118.2(SLC52A2):c.-110-5T>C	SLC52A2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1304288	NM_001363118.2(SLC52A2):c.-110-4C>G	SLC52A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 549670	NM_001363118.2(SLC52A2):c.-110-1G>A	SLC52A2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420352	NM_001363118.2(SLC52A2):c.-106AAG[1]	SLC52A2	Microsatellite (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 383420	NM_001363118.2(SLC52A2):c.-44C>T	SLC52A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1508297	NM_001363118.2(SLC52A2):c.11C>G (p.Pro4Arg)	SLC52A2 (P4R)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 653493	NM_001363118.2(SLC52A2):c.13A>T (p.Thr5Ser)	SLC52A2 (T5S)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +2 more	GUncertain significance
Select item 846798	NM_001363118.2(SLC52A2):c.22C>T (p.Arg8Cys)	SLC52A2 (R8C)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1308493	NM_001363118.2(SLC52A2):c.23G>A (p.Arg8His)	SLC52A2 (R8H)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1304289	NM_001363118.2(SLC52A2):c.26C>G (p.Pro9Arg)	SLC52A2 (P9R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1010102	NM_001363118.2(SLC52A2):c.28G>A (p.Val10Met)	SLC52A2 (V10M)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 512756	NM_001363118.2(SLC52A2):c.36C>T (p.Thr12=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2 +2 more	GLikely benign
Select item 1498296	NM_001363118.2(SLC52A2):c.44T>A (p.Leu15Gln)	SLC52A2 (L15Q)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1394454	NM_001363118.2(SLC52A2):c.45G>A (p.Leu15=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2061559	NM_001363118.2(SLC52A2):c.49G>T (p.Ala17Ser)	SLC52A2 (A17S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2840454	NM_001363118.2(SLC52A2):c.54_55del (p.Phe19fs)	SLC52A2 (F19fs)	Microsatellite (frameshift variant)	Brown-Vialetto-van Laere syndrome 2	GPathogenic
Select item 1804459	NM_001363118.2(SLC52A2):c.61A>T (p.Met21Leu)	SLC52A2 (M21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120913	NM_001363118.2(SLC52A2):c.62T>A (p.Met21Lys)	SLC52A2 (M21K)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 473206	NM_001363118.2(SLC52A2):c.63G>T (p.Met21Ile)	SLC52A2 (M21I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 568898	NM_001363118.2(SLC52A2):c.68C>A (p.Ser23Tyr)	SLC52A2 (S23Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1509247	NM_001363118.2(SLC52A2):c.77C>T (p.Ala26Val)	SLC52A2 (A26V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 581927	NM_001363118.2(SLC52A2):c.83A>G (p.Asn28Ser)	SLC52A2 (N28S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 576124	NM_001363118.2(SLC52A2):c.116_130+83del	SLC52A2	Deletion (splice donor variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 387516	NM_001363118.2(SLC52A2):c.84T>C (p.Asn28=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2 +2 more	GLikely benign
Select item 847589	NM_001363118.2(SLC52A2):c.87G>T (p.Gly29=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 210037	NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser)	SLC52A2 (W31S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	Gnot provided
Select item 245818	NM_001363118.2(SLC52A2):c.107T>G (p.Val36Gly)	SLC52A2 (V36G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2710029	NM_001363118.2(SLC52A2):c.108G>A (p.Val36=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2740155	NM_001363118.2(SLC52A2):c.111G>A (p.Val37=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2309501	NM_001363118.2(SLC52A2):c.112G>C (p.Val38Leu)	SLC52A2 (V38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 579817	NM_001363118.2(SLC52A2):c.116A>G (p.Lys39Arg)	SLC52A2 (K39R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1419826	NM_001363118.2(SLC52A2):c.122T>C (p.Leu41Pro)	SLC52A2 (L41P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1596028	NM_001363118.2(SLC52A2):c.123T>C (p.Leu41=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1481381	NM_001363118.2(SLC52A2):c.124C>T (p.Pro42Ser)	SLC52A2 (P42S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1185143	NM_001363118.2(SLC52A2):c.124C>G (p.Pro42Ala)	SLC52A2 (P42A)	Single nucleotide variant (missense variant)	Auditory neuropathy spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 473199	NM_001363118.2(SLC52A2):c.126A>C (p.Pro42=)	SLC52A2	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely benign
Select item 2131217	NM_001363118.2(SLC52A2):c.127G>C (p.Glu43Gln)	SLC52A2 (E43Q)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2089261	NM_001363118.2(SLC52A2):c.130G>A (p.Gly44Ser)	SLC52A2 (A44T +1 more)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1650653	NM_001363118.2(SLC52A2):c.130+13G>A	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 2727532	NM_001363118.2(SLC52A2):c.131-19C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1598085	NM_001363118.2(SLC52A2):c.131-16C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1573082	NM_001363118.2(SLC52A2):c.131-12C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1952843	NM_001363118.2(SLC52A2):c.131-11C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1123224	NM_001363118.2(SLC52A2):c.131-11C>G	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1586224	NM_001363118.2(SLC52A2):c.131-8C>T	SLC52A2	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely benign
Select item 705360	NM_001363118.2(SLC52A2):c.131-7C>T	SLC52A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 580165	NM_001363118.2(SLC52A2):c.131-1G>C	SLC52A2	Single nucleotide variant (splice acceptor variant +1 more)	Brown-Vialetto-van Laere syndrome 2	GLikely pathogenic
Select item 422163	NM_001363118.2(SLC52A2):c.135G>T (p.Trp45Cys)	SLC52A2 (W45C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 575643	NM_001363118.2(SLC52A2):c.143C>T (p.Pro48Leu)	SLC52A2 (P48L)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 473200	NM_001363118.2(SLC52A2):c.144C>G (p.Pro48=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely benign
Select item 1047525	NM_001363118.2(SLC52A2):c.145T>C (p.Ser49Pro)	SLC52A2 (S49P)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1773329	NM_001363118.2(SLC52A2):c.146C>T (p.Ser49Phe)	SLC52A2 (S49F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 708931	NM_001363118.2(SLC52A2):c.147T>C (p.Ser49=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 419108	NM_001363118.2(SLC52A2):c.149dup (p.Tyr50Ter)	SLC52A2 (Y50*)	Duplication (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 1582192	NM_001363118.2(SLC52A2):c.150C>T (p.Tyr50=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 944599	NM_001363118.2(SLC52A2):c.151G>A (p.Val51Ile)	SLC52A2 (V51I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2040072	NM_001363118.2(SLC52A2):c.154T>A (p.Ser52Thr)	SLC52A2 (S52T)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1723848	NM_001363118.2(SLC52A2):c.154T>C (p.Ser52Pro)	SLC52A2 (S52P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 40231	NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe)	SLC52A2 (S52F)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2415988	NM_001363118.2(SLC52A2):c.157G>C (p.Val53Leu)	SLC52A2 (V53L)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1423007	NM_001363118.2(SLC52A2):c.157G>T (p.Val53Leu)	SLC52A2 (V53L)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 2024905	NM_001363118.2(SLC52A2):c.159G>C (p.Val53=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 945185	NM_001363118.2(SLC52A2):c.164T>C (p.Val55Ala)	SLC52A2 (V55A)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1297712	NM_001363118.2(SLC52A2):c.167C>T (p.Ala56Val)	SLC52A2 (A56V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GUncertain significance
Select item 1091197	NM_001363118.2(SLC52A2):c.169C>T (p.Leu57=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1940939	NM_001363118.2(SLC52A2):c.174G>A (p.Gly58=)	SLC52A2	Single nucleotide variant (synonymous variant +3 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1493748	NM_001363118.2(SLC52A2):c.176A>G (p.Asn59Ser)	SLC52A2 (N59S)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance
Select item 1157939	NM_001363118.2(SLC52A2):c.177C>T (p.Asn59=)	SLC52A2	Single nucleotide variant (synonymous variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GLikely benign
Select item 1378171	NM_001363118.2(SLC52A2):c.178C>G (p.Leu60Val)	SLC52A2 (L60V)	Single nucleotide variant (missense variant +2 more)	Brown-Vialetto-van Laere syndrome 2	GUncertain significance

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