ClinVar for Gene (Select 8140) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320215	NM_003486.7(SLC7A5):c.577G>A (p.Ala193Thr)	SLC7A5 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320214	NM_003486.7(SLC7A5):c.1132G>A (p.Val378Met)	LOC126862442, SLC7A5 (V378M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320213	NM_003486.7(SLC7A5):c.584G>A (p.Arg195Gln)	SLC7A5 (R195Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243528	NC_000016.9:g.(?_87677844)_(87970056_?)dup	CA5A, JPH3 +2 more	Duplication	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3165595	NM_003486.7(SLC7A5):c.94G>T (p.Ala32Ser)	SLC7A5 (A32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165594	NM_003486.7(SLC7A5):c.937G>A (p.Val313Met)	SLC7A5 (V313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165593	NM_003486.7(SLC7A5):c.806A>G (p.Asn269Ser)	SLC7A5 (N269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165591	NM_003486.7(SLC7A5):c.527G>T (p.Cys176Phe)	SLC7A5 (C176F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165590	NM_003486.7(SLC7A5):c.494C>T (p.Pro165Leu)	SLC7A5 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165589	NM_003486.7(SLC7A5):c.422G>A (p.Arg141Gln)	SLC7A5 (R141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165588	NM_003486.7(SLC7A5):c.343G>A (p.Gly115Ser)	SLC7A5 (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165586	NM_003486.7(SLC7A5):c.1499T>A (p.Met500Lys)	SLC7A5 (M500K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165585	NM_003486.7(SLC7A5):c.1465A>G (p.Ile489Val)	SLC7A5 (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165584	NM_003486.7(SLC7A5):c.1463G>T (p.Gly488Val)	SLC7A5 (G488V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059149	NM_003486.7(SLC7A5):c.552C>G (p.Ala184=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 3056426	NM_003486.7(SLC7A5):c.345C>A (p.Gly115=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GBenign
Select item 3050193	NM_003486.7(SLC7A5):c.1141-4C>A	SLC7A5	Single nucleotide variant (intron variant)	SLC7A5-related disorder	GLikely benign
Select item 3047210	NM_003486.7(SLC7A5):c.-1C>T	SLC7A5	Single nucleotide variant (5 prime UTR variant)	SLC7A5-related disorder	GLikely benign
Select item 3044393	NM_003486.7(SLC7A5):c.17C>T (p.Pro6Leu)	SLC7A5 (P6L)	Single nucleotide variant (missense variant)	SLC7A5-related disorder	GBenign
Select item 3043891	NM_003486.7(SLC7A5):c.1347C>G (p.Val449=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GBenign
Select item 3039582	NM_003486.7(SLC7A5):c.*9C>G	SLC7A5	Single nucleotide variant (3 prime UTR variant)	SLC7A5-related disorder	GLikely benign
Select item 3037627	NM_003486.7(SLC7A5):c.459C>T (p.Ala153=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 3037180	NM_003486.7(SLC7A5):c.1290+6C>A	SLC7A5	Single nucleotide variant (intron variant)	SLC7A5-related disorder	GLikely benign
Select item 3034437	NM_003486.7(SLC7A5):c.122G>A (p.Gly41Asp)	SLC7A5 (G41D)	Single nucleotide variant (missense variant)	SLC7A5-related disorder	GLikely benign
Select item 3033310	NM_003486.7(SLC7A5):c.990C>T (p.Phe330=)	SLC7A5	Single nucleotide variant (synonymous variant)	SLC7A5-related disorder	GLikely benign
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2646965	NM_003486.7(SLC7A5):c.132G>C (p.Val44=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646964	NM_003486.7(SLC7A5):c.607G>A (p.Ala203Thr)	SLC7A5 (A203T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620184	NM_003486.7(SLC7A5):c.1510C>A (p.Pro504Thr)	SLC7A5 (P504T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618407	NM_003486.7(SLC7A5):c.1300G>A (p.Ala434Thr)	SLC7A5 (A434T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609223	NM_003486.7(SLC7A5):c.68G>C (p.Arg23Pro)	SLC7A5 (R23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549370	NM_003486.7(SLC7A5):c.31C>G (p.Leu11Val)	SLC7A5 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537071	NM_003486.7(SLC7A5):c.46G>A (p.Ala16Thr)	SLC7A5 (A16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533975	NM_003486.7(SLC7A5):c.920C>T (p.Ser307Leu)	SLC7A5 (S307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514527	NM_003486.7(SLC7A5):c.1144G>C (p.Val382Leu)	SLC7A5 (V382L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510662	NM_003486.7(SLC7A5):c.151A>G (p.Thr51Ala)	SLC7A5 (T51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2498685	GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1	BANP, C16orf95 +12 more	Copy number loss	not provided	GPathogenic
Select item 2474419	NM_003486.7(SLC7A5):c.612G>T (p.Lys204Asn)	SLC7A5 (K204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463525	NM_003486.7(SLC7A5):c.1342G>A (p.Ala448Thr)	SLC7A5 (A448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423762	NC_000016.9:g.(?_87677844)_(88505740_?)dup	BANP, CA5A +4 more	Duplication	not provided	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2399776	NM_003486.7(SLC7A5):c.1426G>T (p.Val476Phe)	SLC7A5 (V476F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371458	NM_003486.7(SLC7A5):c.1266G>T (p.Lys422Asn)	SLC7A5 (K422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344905	NM_003486.7(SLC7A5):c.1460A>G (p.Gln487Arg)	SLC7A5 (Q487R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273686	NM_003486.7(SLC7A5):c.76A>T (p.Met26Leu)	SLC7A5 (M26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250246	NM_003486.7(SLC7A5):c.1240G>A (p.Gly414Ser)	SLC7A5 (G414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224703	NM_003486.7(SLC7A5):c.1303C>G (p.Leu435Val)	SLC7A5 (L435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212619	NM_003486.7(SLC7A5):c.964G>A (p.Val322Ile)	SLC7A5 (V322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807570	GRCh37/hg19 16q24.2(chr16:87782799-88150144)x1	KLHDC4, CA5A +2 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1344616	NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu)	LOC126862442, SLC7A5 (P375L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1344609	NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val)	SLC7A5 (A246V)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1069841	NC_000016.9:g.(?_87636753)_(88505740_?)del	BANP, JPH3 +4 more	Deletion	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	GPathogenic
Select item 979486	GRCh37/hg19 16q24.2(chr16:87728281-87982996)x1	JPH3, SLC7A5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 979484	GRCh37/hg19 16q24.2(chr16:87762484-88234413)x1	KLHDC4, SLC7A5 +2 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815865	GRCh37/hg19 16q24.2(chr16:87765473-87992527)x3	KLHDC4, BANP +2 more	Copy number gain	not provided	GLikely benign
Select item 786640	NM_003486.7(SLC7A5):c.1131C>T (p.Leu377=)	LOC126862442, SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781231	NM_003486.7(SLC7A5):c.1043+6C>T	SLC7A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780314	NM_003486.7(SLC7A5):c.690C>G (p.Asn230Lys)	SLC7A5 (N230K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780313	NM_003486.7(SLC7A5):c.1008C>T (p.Phe336=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777064	NM_003486.7(SLC7A5):c.668A>T (p.Asp223Val)	SLC7A5 (D223V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 731128	NM_003486.7(SLC7A5):c.387C>T (p.Ala129=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730064	NM_003486.7(SLC7A5):c.597C>T (p.Ala199=)	SLC7A5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688519	GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	BANP, CA5A +11 more	Copy number gain	not provided	GUncertain significance
Select item 687850	GRCh37/hg19 16q24.2(chr16:87513448-87930837)x1	CA5A, JPH3 +4 more	Copy number loss	not provided	GUncertain significance
Select item 686391	GRCh37/hg19 16q24.2(chr16:87662098-88059562)x3	BANP, CA5A +3 more	Copy number gain	not provided	GUncertain significance
Select item 685638	GRCh37/hg19 16q24.2(chr16:87685469-87867191)x1	JPH3, KLHDC4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564368	GRCh37/hg19 16q24.2(chr16:87766191-87992527)x3	KLHDC4, BANP +2 more	Copy number gain	not provided	GUncertain significance
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443397	GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1	C16orf74, C16orf95 +18 more	Copy number loss	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395208	GRCh37/hg19 16q24.2(chr16:87764245-87881810)x3	KLHDC4, SLC7A5	Copy number gain	See cases	GLikely benign
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267475	Single allele	ZC3H18, ZCCHC14 +29 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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