"Invitae"[submitter] AND "SLC36A2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 771861	NM_181776.3(SLC36A2):c.1191C>T (p.Ala397=)	SLC36A2	Single nucleotide variant (synonymous variant)	Hyperglycinuria +2 more	GBenign/Likely 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 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 2717752	NM_181776.3(SLC36A2):c.1078G>A (p.Val360Ile)	SLC36A2 (V360I)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 592116	NM_181776.3(SLC36A2):c.448G>A (p.Val150Met)	SLC36A2 (V150M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 774309	NM_181776.3(SLC36A2):c.273G>A (p.Leu91=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2384	NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val)	SLC36A2 (G87V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2048582	NM_181776.3(SLC36A2):c.255+13C>A	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290166	NM_181776.3(SLC36A2):c.246G>A (p.Ala82=)	SLC36A2	Single nucleotide variant (synonymous variant)	SLC36A2-related condition +1 more	GBenign
Select item 753303	NM_181776.3(SLC36A2):c.243C>T (p.Asn81=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358426	NM_181776.3(SLC36A2):c.232G>A (p.Ala78Thr)	SLC36A2 (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2729001	NM_181776.3(SLC36A2):c.231C>T (p.Leu77=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052829	NM_181776.3(SLC36A2):c.184_187del (p.His62fs)	SLC36A2 (H62fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1244967	NM_181776.3(SLC36A2):c.187C>T (p.Leu63=)	SLC36A2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2858711	NM_181776.3(SLC36A2):c.165-12C>G	SLC36A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791488	NM_181776.3(SLC36A2):c.160A>G (p.Ile54Val)	SLC36A1, SLC36A2 (I54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287839	NM_181776.3(SLC36A2):c.153C>T (p.Thr51=)	SLC36A2, SLC36A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2052777	NM_181776.3(SLC36A2):c.146AGA[1] (p.Lys50del)	SLC36A1, SLC36A2 (K50del)	Microsatellite (inframe_deletion)	SLC36A2-related condition +1 more	GLikely benign
Select item 788292	NM_181776.3(SLC36A2):c.147G>A (p.Lys49=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2713208	NM_181776.3(SLC36A2):c.138A>C (p.Ala46=)	SLC36A1, SLC36A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788487	NM_181776.3(SLC36A2):c.80C>T (p.Ala27Val)	SLC36A1, SLC36A2 (A27V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 789584	NM_181776.3(SLC36A2):c.76A>G (p.Ser26Gly)	SLC36A1, SLC36A2 (S26G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2002810	NM_181776.3(SLC36A2):c.62T>C (p.Met21Thr)	SLC36A1, SLC36A2 (M21T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871450	NM_181776.3(SLC36A2):c.34G>C (p.Gly12Arg)	SLC36A1, SLC36A2 (G12R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427579	NC_000005.9:g.(?_150704827)_(150705033_?)dup	SLC36A2	Duplication	not provided	GUncertain significance
Select item 2423036	NC_000005.9:g.(?_150632778)_(150727021_?)dup	GM2A, SLC36A2 +1 more	Duplication	Tay-Sachs disease, variant AB	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85