ClinVar for Gene (Select 83986) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314073	NM_183337.3(RGS11):c.1277A>C (p.Glu426Ala)	FAM234A, RGS11 (E405A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277415	NM_032039.4(FAM234A):c.1312G>A (p.Gly438Ser)	FAM234A (G438S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277414	NM_032039.4(FAM234A):c.956G>A (p.Arg319Lys)	FAM234A (R319K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277413	NM_032039.4(FAM234A):c.1654G>T (p.Ala552Ser)	FAM234A (A552S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277412	NM_032039.4(FAM234A):c.560C>T (p.Ala187Val)	FAM234A (A187V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277411	NM_032039.4(FAM234A):c.136C>T (p.Arg46Trp)	FAM234A (R46W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3153769	NM_183337.3(RGS11):c.1394G>A (p.Gly465Glu)	FAM234A, RGS11 (G281E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153768	NM_183337.3(RGS11):c.1288C>T (p.Arg430Cys)	FAM234A, RGS11 (R430C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092378	NM_032039.4(FAM234A):c.972C>T (p.Ser324=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3092377	NM_032039.4(FAM234A):c.436A>T (p.Ser146Cys)	FAM234A (S146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092376	NM_032039.4(FAM234A):c.158T>C (p.Phe53Ser)	FAM234A (F53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092375	NM_032039.4(FAM234A):c.1558G>T (p.Val520Phe)	FAM234A (V520F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092374	NM_032039.4(FAM234A):c.1483A>G (p.Ile495Val)	FAM234A (I495V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092373	NM_032039.4(FAM234A):c.1477G>A (p.Ala493Thr)	FAM234A (A493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092372	NM_032039.4(FAM234A):c.1397G>T (p.Arg466Leu)	FAM234A (R466L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092371	NM_032039.4(FAM234A):c.137G>A (p.Arg46Gln)	FAM234A (R46Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092370	NM_032039.4(FAM234A):c.1219G>A (p.Val407Ile)	FAM234A (V407I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092369	NM_032039.4(FAM234A):c.109A>T (p.Ser37Cys)	FAM234A (S37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092368	NM_032039.4(FAM234A):c.1076C>T (p.Thr359Met)	FAM234A (T359M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092367	NM_032039.4(FAM234A):c.1000G>A (p.Val334Ile)	FAM234A (V334I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685538	GRCh37/hg19 16p13.3(chr16:254059-306243)x1	FAM234A, LUC7L	Copy number loss	not provided	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645775	NM_183337.3(RGS11):c.1289G>A (p.Arg430His)	FAM234A, RGS11 (R246H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622383	NM_032039.4(FAM234A):c.1115A>C (p.Lys372Thr)	FAM234A (K372T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619128	NM_032039.4(FAM234A):c.555C>G (p.Phe185Leu)	FAM234A (F185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618963	NM_032039.4(FAM234A):c.279C>G (p.Asp93Glu)	FAM234A (D93E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600011	NM_032039.4(FAM234A):c.1343C>T (p.Thr448Met)	FAM234A (T448M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570522	NM_032039.4(FAM234A):c.661G>A (p.Gly221Ser)	FAM234A (G221S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2531471	NM_032039.4(FAM234A):c.1033G>T (p.Val345Leu)	FAM234A (V345L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522423	NM_032039.4(FAM234A):c.1633C>T (p.Arg545Trp)	FAM234A (R545W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519954	NM_183337.3(RGS11):c.1349C>G (p.Thr450Ser)	FAM234A, RGS11 (T439S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515938	NM_032039.4(FAM234A):c.1351G>C (p.Gly451Arg)	FAM234A (G451R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2492225	NM_032039.4(FAM234A):c.1582C>G (p.Leu528Val)	FAM234A (L528V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2479057	NM_032039.4(FAM234A):c.123G>T (p.Gln41His)	FAM234A (Q41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance
Select item 2407218	NM_032039.4(FAM234A):c.1129C>T (p.Arg377Cys)	FAM234A (R377C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384522	NM_032039.4(FAM234A):c.34C>T (p.His12Tyr)	FAM234A (H12Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377708	NM_032039.4(FAM234A):c.1120A>G (p.Ile374Val)	FAM234A (I374V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371673	NM_032039.4(FAM234A):c.787G>C (p.Gly263Arg)	FAM234A (G263R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361932	NM_032039.4(FAM234A):c.674C>G (p.Pro225Arg)	FAM234A (P225R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355711	NM_032039.4(FAM234A):c.440C>T (p.Thr147Met)	FAM234A (T147M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323979	NM_032039.4(FAM234A):c.190T>G (p.Phe64Val)	FAM234A (F64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319796	NM_032039.4(FAM234A):c.152C>A (p.Ala51Glu)	FAM234A (A51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313228	NM_032039.4(FAM234A):c.71A>G (p.Asn24Ser)	FAM234A (N24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286871	NM_032039.4(FAM234A):c.1139C>A (p.Pro380Gln)	FAM234A (P380Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277852	NM_032039.4(FAM234A):c.880G>A (p.Glu294Lys)	FAM234A (E294K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264719	NM_032039.4(FAM234A):c.1235C>T (p.Ala412Val)	FAM234A (A412V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249169	NM_032039.4(FAM234A):c.1180G>A (p.Asp394Asn)	FAM234A (D394N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2247539	NM_032039.4(FAM234A):c.1046C>G (p.Ala349Gly)	FAM234A (A349G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224010	NM_032039.4(FAM234A):c.1063G>A (p.Gly355Arg)	FAM234A (G355R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223470	NM_032039.4(FAM234A):c.835C>G (p.Pro279Ala)	FAM234A (P279A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221741	NM_032039.4(FAM234A):c.1360C>T (p.Arg454Trp)	FAM234A (R454W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214181	NM_032039.4(FAM234A):c.1394C>T (p.Pro465Leu)	FAM234A (P465L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809509	GRCh37/hg19 16p13.3(chr16:204932-313258)x3	FAM234A, HBA1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1808170	GRCh37/hg19 16p13.3(chr16:106989-293949)x1	FAM234A, HBA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1245849	NR_104317.2(FAM234A):n.1882T>C	FAM234A, RGS11 (K231R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 785515	NM_032039.4(FAM234A):c.423G>A (p.Ser141=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778576	NM_032039.4(FAM234A):c.701G>A (p.Arg234Gln)	FAM234A (R234Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773860	NM_032039.4(FAM234A):c.1646A>G (p.Gln549Arg)	FAM234A (Q549R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773749	NM_032039.4(FAM234A):c.1317C>G (p.Leu439=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 758797	NM_032039.4(FAM234A):c.693C>T (p.Thr231=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 747364	NM_032039.4(FAM234A):c.1281C>T (p.Thr427=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 744836	NM_032039.4(FAM234A):c.283C>T (p.Leu95=)	FAM234A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687911	GRCh37/hg19 16p13.3(chr16:259506-401213)x3	ARHGDIG, AXIN1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 686928	GRCh37/hg19 16p13.3(chr16:232111-378473)x3	ARHGDIG, AXIN1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564255	GRCh37/hg19 16p13.3(chr16:293387-614930)x1	PGAP6, PDIA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 564250	GRCh37/hg19 16p13.3(chr16:85880-294656)x1	SNRNP25, HBA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
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 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic

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