153201[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 1282405	NM_181776.3(SLC36A2):c.*207A>G	SLC36A2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1222845	NM_181776.3(SLC36A2):c.*113A>G	SLC36A2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1244915	NM_181776.3(SLC36A2):c.75_76dup	SLC36A2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1242005	NM_181776.3(SLC36A2):c.*76dup	SLC36A2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1179293	NM_181776.3(SLC36A2):c.74_76dup	SLC36A2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1287078	NM_181776.3(SLC36A2):c.*51CT[3]	SLC36A2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 788353	NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn)	SLC36A2 (D471N)	Single nucleotide variant (missense variant)	SLC36A2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2655946	NM_181776.3(SLC36A2):c.1401C>G (p.Leu467=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736639	NM_181776.3(SLC36A2):c.1392C>T (p.Asp464=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2883131	NM_181776.3(SLC36A2):c.1385C>A (p.Ala462Asp)	SLC36A2 (A462D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631303	NM_181776.3(SLC36A2):c.1385C>T (p.Ala462Val)	SLC36A2 (A462V)	Single nucleotide variant (missense variant)	SLC36A2-related condition	GUncertain significance
Select item 1182853	NM_181776.3(SLC36A2):c.1383G>A (p.Gln461=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2001938	NM_181776.3(SLC36A2):c.1379A>C (p.Tyr460Ser)	SLC36A2 (Y460S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141139	NM_181776.3(SLC36A2):c.1356C>T (p.Phe452=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697895	NM_181776.3(SLC36A2):c.1335C>T (p.Ala445=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1257807	NM_181776.3(SLC36A2):c.1334C>T (p.Ala445Val)	SLC36A2 (A445V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1274519	NM_181776.3(SLC36A2):c.1332C>T (p.Asp444=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2084287	NM_181776.3(SLC36A2):c.1314C>A (p.Pro438=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775717	NM_181776.3(SLC36A2):c.1311C>G (p.Ser437Arg)	SLC36A2 (S437R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245781	NM_181776.3(SLC36A2):c.1290G>A (p.Thr430=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2721333	NM_181776.3(SLC36A2):c.1271C>G (p.Pro424Arg)	SLC36A2 (P424R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 797437	NM_181776.3(SLC36A2):c.1266C>T (p.Ile422=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725585	NM_181776.3(SLC36A2):c.1247C>A (p.Thr416Asn)	SLC36A2 (T416N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 795082	NM_181776.3(SLC36A2):c.1236C>A (p.Ser412=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2512852	NM_181776.3(SLC36A2):c.1229T>C (p.Val410Ala)	SLC36A2 (V410A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2038765	NM_181776.3(SLC36A2):c.1221C>T (p.Ile407=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2244067	NM_181776.3(SLC36A2):c.1202C>A (p.Pro401His)	SLC36A2 (P401H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771861	NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign/Likely benign
Select item 509409	NM_181776.3(SLC36A2):c.1181-3C>T	SLC36A2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 728664	NM_181776.3(SLC36A2):c.1181-5T>C	SLC36A2	Single nucleotide variant (intron variant)	Hyperglycinuria +2 more	GBenign/Likely benign
Select item 1245147	NM_181776.3(SLC36A2):c.1180+140C>G	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276893	NM_181776.3(SLC36A2):c.1180+36C>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2876723	NM_181776.3(SLC36A2):c.1180+18T>C	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787145	NM_181776.3(SLC36A2):c.1180+16A>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056276	NM_181776.3(SLC36A2):c.1157G>A (p.Arg386His)	SLC36A2 (R386H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868388	NM_181776.3(SLC36A2):c.1150T>A (p.Ser384Thr)	SLC36A2 (S384T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715954	NM_181776.3(SLC36A2):c.1126C>T (p.Arg376Cys)	SLC36A2 (R376C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1974884	NM_181776.3(SLC36A2):c.1117G>A (p.Val373Met)	SLC36A2 (V373M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137105	NM_181776.3(SLC36A2):c.1115G>A (p.Arg372Gln)	SLC36A2 (R372Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623211	NM_181776.3(SLC36A2):c.1108A>G (p.Ile370Val)	SLC36A2 (I370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2717752	NM_181776.3(SLC36A2):c.1078G>A (p.Val360Ile)	SLC36A2 (V360I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605228	NM_181776.3(SLC36A2):c.1058C>T (p.Thr353Ile)	SLC36A2 (T353I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788991	NM_181776.3(SLC36A2):c.1044C>T (p.Ala348=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign
Select item 2777680	NM_181776.3(SLC36A2):c.1041dup (p.Ala348fs)	SLC36A2 (A348fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1245276	NM_181776.3(SLC36A2):c.1011-44G>C	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252286	NM_181776.3(SLC36A2):c.1010+123A>G	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273336	NM_181776.3(SLC36A2):c.1010+89T>C	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1971209	NM_181776.3(SLC36A2):c.1010+14C>G	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725463	NM_181776.3(SLC36A2):c.978G>A (p.Lys326=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2198498	NM_181776.3(SLC36A2):c.958C>T (p.Arg320Trp)	SLC36A2 (R320W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184487	NM_181776.3(SLC36A2):c.950G>C (p.Gly317Ala)	SLC36A2 (G317A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971217	NM_181776.3(SLC36A2):c.935G>A (p.Gly312Asp)	SLC36A2 (G312D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734125	NM_181776.3(SLC36A2):c.915C>T (p.Ile305=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign/Likely benign
Select item 771711	NM_181776.3(SLC36A2):c.911C>T (p.Ser304Phe)	SLC36A2 (S304F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 737308	NM_181776.3(SLC36A2):c.882C>T (p.His294=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2396998	NM_181776.3(SLC36A2):c.877C>T (p.Arg293Cys)	SLC36A2 (R293C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1268536	NM_181776.3(SLC36A2):c.844-127del	SLC36A2	Deletion (intron variant)	not provided	GBenign
Select item 1970990	NM_181776.3(SLC36A2):c.843+18G>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2097534	NM_181776.3(SLC36A2):c.805_811dup (p.Thr271fs)	SLC36A2 (T271fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2436023	NM_181776.3(SLC36A2):c.793_794dup (p.Pro266fs)	SLC36A2 (P266fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 736166	NM_181776.3(SLC36A2):c.766T>C (p.Leu256=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1973689	NM_181776.3(SLC36A2):c.745-15T>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237380	NM_181776.3(SLC36A2):c.745-27G>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274542	NM_181776.3(SLC36A2):c.745-192C>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2388965	NM_181776.3(SLC36A2):c.721A>T (p.Ile241Phe)	SLC36A2 (I241F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060446	NM_181776.3(SLC36A2):c.701G>C (p.Ser234Thr)	SLC36A2 (S234T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155985	NM_181776.3(SLC36A2):c.669C>T (p.Ile223=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1049228	NM_181776.3(SLC36A2):c.613A>G (p.Met205Val)	SLC36A2 (M205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973208	NM_181776.3(SLC36A2):c.602C>T (p.Ser201Leu)	SLC36A2 (S201L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039419	NM_181776.3(SLC36A2):c.587C>T (p.Thr196Ile)	SLC36A2 (T196I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1983886	NM_181776.3(SLC36A2):c.552C>G (p.Thr184=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1248794	NM_181776.3(SLC36A2):c.531G>A (p.Val177=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788992	NM_181776.3(SLC36A2):c.526-5C>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276095	NM_181776.3(SLC36A2):c.526-96C>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260136	NM_181776.3(SLC36A2):c.525+159A>C	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2871515	NM_181776.3(SLC36A2):c.525+13A>G	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 782461	NM_181776.3(SLC36A2):c.512A>G (p.Asp171Gly)	SLC36A2 (D171G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2844614	NM_181776.3(SLC36A2):c.496A>G (p.Ile166Val)	SLC36A2 (I166V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042205	NM_181776.3(SLC36A2):c.471C>T (p.Thr157=)	SLC36A2	Single nucleotide variant (synonymous variant)	SLC36A2-related condition	GLikely benign
Select item 592116	NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)	SLC36A2 (V150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286912	NM_181776.3(SLC36A2):c.441-169G>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288399	NM_181776.3(SLC36A2):c.441-188dup	SLC36A2	Duplication (intron variant)	not provided	GBenign
Select item 1970960	NM_181776.3(SLC36A2):c.440+14G>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 713574	NM_181776.3(SLC36A2):c.440+8G>C	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 729146	NM_181776.3(SLC36A2):c.430C>T (p.His144Tyr)	SLC36A2 (H144Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 727216	NM_181776.3(SLC36A2):c.426C>T (p.His142=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 2894350	NM_181776.3(SLC36A2):c.409G>A (p.Ala137Thr)	SLC36A2 (A137T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2487375	NM_181776.3(SLC36A2):c.409G>C (p.Ala137Pro)	SLC36A2 (A137P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164542	NM_181776.3(SLC36A2):c.378G>A (p.Thr126=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2896835	NM_181776.3(SLC36A2):c.377C>T (p.Thr126Met)	SLC36A2 (T126M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231150	NM_181776.3(SLC36A2):c.345-131C>T	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270652	NM_181776.3(SLC36A2):c.345-191G>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2186857	NM_181776.3(SLC36A2):c.338G>A (p.Cys113Tyr)	SLC36A2 (C113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 758229	NM_181776.3(SLC36A2):c.323G>A (p.Cys108Tyr)	SLC36A2 (C108Y)	Single nucleotide variant (missense variant)	Iminoglycinuria +2 more	GBenign/Likely benign
Select item 2072461	NM_181776.3(SLC36A2):c.312C>T (p.Ile104=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2333464	NM_181776.3(SLC36A2):c.289A>G (p.Ile97Val)	SLC36A2 (I97V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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