SLC9A5[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 2242770	NM_004594.3(SLC9A5):c.10G>T (p.Ala4Ser)	SLC9A5 (A4S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2403733	NM_004594.3(SLC9A5):c.41C>T (p.Ala14Val)	SLC9A5 (A14V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405208	NM_004594.3(SLC9A5):c.202C>G (p.Arg68Gly)	SLC9A5 (R68G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3165716	NM_004594.3(SLC9A5):c.292G>C (p.Ala98Pro)	SLC9A5 (A98P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3165717	NM_004594.3(SLC9A5):c.592G>A (p.Val198Ile)	SLC9A5 (V198I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165718	NM_004594.3(SLC9A5):c.615C>G (p.Ile205Met)	SLC9A5 (I104M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622163	NM_004594.3(SLC9A5):c.652G>A (p.Val218Met)	SLC9A5 (V218M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165719	NM_004594.3(SLC9A5):c.712A>T (p.Thr238Ser)	SLC9A5 (T238S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228747	NM_004594.3(SLC9A5):c.823G>A (p.Val275Ile)	SLC9A5 (V174I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2345033	NM_004594.3(SLC9A5):c.865G>A (p.Ala289Thr)	SLC9A5 (A188T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360605	NM_004594.3(SLC9A5):c.895C>G (p.Leu299Val)	SLC9A5 (L4V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311768	NM_004594.3(SLC9A5):c.970T>A (p.Ser324Thr)	SLC9A5 (S223T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590979	NM_004594.3(SLC9A5):c.1054G>A (p.Val352Met)	SLC9A5 (V251M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272443	NM_004594.3(SLC9A5):c.1204A>T (p.Met402Leu)	SLC9A5 (M301L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479039	NM_004594.3(SLC9A5):c.1246G>A (p.Val416Ile)	SLC9A5 (V416I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250778	NM_004594.3(SLC9A5):c.1321A>G (p.Thr441Ala)	SLC9A5 (T441A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367827	NM_004594.3(SLC9A5):c.1330G>A (p.Val444Met)	SLC9A5 (V149M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407800	NM_004594.3(SLC9A5):c.1555C>T (p.Arg519Cys)	SLC9A5 (R519C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279528	NM_004594.3(SLC9A5):c.1562G>A (p.Arg521Gln)	SLC9A5 (R420Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285012	NM_004594.3(SLC9A5):c.1589G>A (p.Arg530Lys)	SLC9A5 (R429K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290073	NM_004594.3(SLC9A5):c.1669A>G (p.Met557Val)	SLC9A5 (M262V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646616	NM_004594.3(SLC9A5):c.1737G>A (p.Ala579=)	SLC9A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2601521	NM_004594.3(SLC9A5):c.1768C>T (p.Arg590Cys)	SLC9A5 (R489C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165715	NM_004594.3(SLC9A5):c.1837C>T (p.Arg613Cys)	SLC9A5 (R318C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483278	NM_004594.3(SLC9A5):c.1838G>A (p.Arg613His)	SLC9A5 (R613H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342683	NM_004594.3(SLC9A5):c.1861C>T (p.Arg621Cys)	SLC9A5 (R326C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2314279	NM_004594.3(SLC9A5):c.1925A>C (p.Lys642Thr)	SLC9A5 (K642T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297724	NM_004594.3(SLC9A5):c.1927C>T (p.Arg643Trp)	SLC9A5 (R348W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610679	NM_004594.3(SLC9A5):c.1952C>T (p.Thr651Ile)	SLC9A5 (T550I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526500	NM_004594.3(SLC9A5):c.2006G>A (p.Arg669His)	SLC9A5 (R669H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2234400	NM_004594.3(SLC9A5):c.2027C>T (p.Ala676Val)	SLC9A5 (A675V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2646617	NM_004594.3(SLC9A5):c.2146_2148del (p.Lys716del)	SLC9A5 (K420del +4 more)	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2316794	NM_004594.3(SLC9A5):c.2197C>T (p.Leu733Phe)	SLC9A5 (L733F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2646618	NM_004594.3(SLC9A5):c.2206G>C (p.Gly736Arg)	SLC9A5 (G440R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2297671	NM_004594.3(SLC9A5):c.2234G>C (p.Cys745Ser)	SLC9A5 (A620P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474555	NM_004594.3(SLC9A5):c.2258C>G (p.Pro753Arg)	SLC9A5 (P457R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277016	NM_004594.3(SLC9A5):c.2266A>G (p.Thr756Ala)	SLC9A5 (T756A +4 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2589254	NM_004594.3(SLC9A5):c.2292G>C (p.Trp764Cys)	SLC9A5 (W468C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569045	NM_004594.3(SLC9A5):c.2318T>C (p.Val773Ala)	SLC9A5 (V478A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646619	NM_004594.3(SLC9A5):c.2457A>G (p.Pro819=)	SLC9A5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2385024	NM_004594.3(SLC9A5):c.2469A>C (p.Glu823Asp)	SLC9A5 (E527D +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2303225	NM_004594.3(SLC9A5):c.2495C>G (p.Pro832Arg)	SLC9A5 (P536R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370578	NM_004594.3(SLC9A5):c.2542G>T (p.Ala848Ser)	SLC9A5 (A552S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2467663	NM_004594.3(SLC9A5):c.2648C>T (p.Thr883Ile)	SLC9A5 (T782I +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
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 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +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	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 76