ClinVar for Gene (Select 6005) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239107	NM_000324.3(RHAG):c.1165G>C (p.Gly389Arg)	RHAG (G389R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3153953	NM_000324.3(RHAG):c.1112C>T (p.Thr371Ile)	RHAG (T371I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153952	NM_000324.3(RHAG):c.110A>G (p.Asn37Ser)	RHAG (N37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050561	NM_000324.3(RHAG):c.1139-8C>T	RHAG	Single nucleotide variant (intron variant)	RHAG-related disorder	GLikely benign
Select item 3035700	NM_000324.3(RHAG):c.808-10G>A	RHAG	Single nucleotide variant (intron variant)	RHAG-related disorder	GLikely benign
Select item 2975144	NM_000324.3(RHAG):c.1015G>A (p.Val339Ile)	RHAG (V339I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970762	NM_000324.3(RHAG):c.808-11C>T	RHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967013	NM_000324.3(RHAG):c.797A>G (p.Lys266Arg)	RHAG (K266R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2960076	NM_000324.3(RHAG):c.213C>T (p.Phe71=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958007	NM_000324.3(RHAG):c.946-18_946-16del	RHAG	Microsatellite (intron variant)	not provided	GBenign
Select item 2902956	NM_000324.3(RHAG):c.1057G>A (p.Ala353Thr)	RHAG (A353T)	Single nucleotide variant (missense variant)	RHAG-related disorder +1 more	GLikely benign
Select item 2802674	NM_000324.3(RHAG):c.168T>A (p.Asp56Glu)	RHAG (D56E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2727778	NM_000324.3(RHAG):c.1212+5T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712934	NM_000324.3(RHAG):c.1107C>T (p.Ile369=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2689871	NM_000324.3(RHAG):c.695C>T (p.Pro232Leu)	RHAG (P232L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689870	NM_000324.3(RHAG):c.208A>C (p.Thr70Pro)	RHAG (T70P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689869	NM_000324.3(RHAG):c.514A>G (p.Met172Val)	RHAG (M172V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689868	NM_000324.3(RHAG):c.464A>G (p.Asn155Ser)	RHAG (N155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682927	NM_000324.3(RHAG):c.518C>T (p.Thr173Met)	RHAG (T173M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671850	NM_000324.3(RHAG):c.544G>A (p.Gly182Ser)	RHAG	Single nucleotide variant (missense variant)	Rh-null, regulator type	GPathogenic
Select item 2671849	NM_000324.3(RHAG):c.920C>T (p.Ser307Phe)	RHAG	Single nucleotide variant (missense variant)	Rh mod blood group phenotype	GPathogenic
Select item 2656637	NM_000324.3(RHAG):c.352G>C (p.Ala118Pro)	RHAG (A118P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656636	NM_000324.3(RHAG):c.911G>A (p.Gly304Glu)	RHAG (G304E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635235	NM_000324.3(RHAG):c.287T>C (p.Ile96Thr)	RHAG (I96T)	Single nucleotide variant (missense variant)	RHAG-related disorder	GUncertain significance
Select item 2634109	NM_000324.3(RHAG):c.1018G>A (p.Val340Met)	RHAG (V340M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2577270	NM_000324.3(RHAG):c.572G>A (p.Arg191Gln)	RHAG (R191Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573392	NM_000324.3(RHAG):c.827C>G (p.Thr276Ser)	RHAG (T276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529239	NM_000324.3(RHAG):c.1085C>T (p.Ala362Val)	RHAG (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473344	NM_000324.3(RHAG):c.362G>A (p.Ser121Asn)	RHAG (S121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442218	NM_000324.3(RHAG):c.974A>G (p.His325Arg)	RHAG (H325R)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GUncertain significance
Select item 2435431	NM_000324.3(RHAG):c.958A>T (p.Thr320Ser)	RHAG (T320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435430	NM_000324.3(RHAG):c.102G>C (p.Glu34Asp)	RHAG (E34D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435429	NM_000324.3(RHAG):c.995A>G (p.Asn332Ser)	RHAG (N332S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435428	NM_000324.3(RHAG):c.267G>C (p.Leu89Phe)	RHAG (L89F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435427	NM_000324.3(RHAG):c.1101C>T (p.Ser367=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2435426	NM_000324.3(RHAG):c.791G>A (p.Arg264Gln)	RHAG (R264Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435425	NM_000324.3(RHAG):c.1094T>G (p.Leu365Arg)	RHAG (L365R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435424	NM_000324.3(RHAG):c.1165G>A (p.Gly389Arg)	RHAG (G389R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435423	NM_000324.3(RHAG):c.532G>A (p.Gly178Arg)	RHAG (G178R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435422	NM_000324.3(RHAG):c.138A>G (p.Ile46Met)	RHAG (I46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435421	NM_000324.3(RHAG):c.172C>T (p.His58Tyr)	RHAG (H58Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435420	NM_000324.3(RHAG):c.437T>C (p.Ile146Thr)	RHAG (I146T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435419	NM_000324.3(RHAG):c.1204T>C (p.Tyr402His)	RHAG (Y402H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2422682	NC_000006.11:g.(?_49399441)_(49604525_?)dup	C6orf141, CENPQ +3 more	Duplication	not provided	GUncertain significance
Select item 2307735	NM_000324.3(RHAG):c.611C>T (p.Ala204Val)	RHAG (A204V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2244914	NM_000324.3(RHAG):c.1108G>A (p.Gly370Arg)	RHAG (G370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243591	NM_000324.3(RHAG):c.145G>C (p.Glu49Gln)	RHAG (E49Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2237090	NM_000324.3(RHAG):c.572G>T (p.Arg191Leu)	RHAG (R191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2064307	NM_000324.3(RHAG):c.256G>A (p.Val86Ile)	RHAG (V86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038181	NM_000324.3(RHAG):c.83C>T (p.Thr28Met)	RHAG (T28M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2007467	NM_000324.3(RHAG):c.899G>A (p.Gly300Glu)	RHAG (G300E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917826	NM_000324.3(RHAG):c.946-18T>G	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693915	NM_000324.3(RHAG):c.187G>C (p.Val63Leu)	RHAG (V63L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1693914	NM_000324.3(RHAG):c.199T>C (p.Phe67Leu)	RHAG (F67L)	Single nucleotide variant (missense variant)	RHAG-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1693913	NM_000324.3(RHAG):c.329T>C (p.Ile110Thr)	RHAG (I110T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693912	NM_000324.3(RHAG):c.939C>T (p.Phe313=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1670237	NM_000324.3(RHAG):c.1139-7G>A	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1605130	NM_000324.3(RHAG):c.492+16T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592427	NM_000324.3(RHAG):c.807+9C>T	RHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542694	NM_000324.3(RHAG):c.861G>A (p.Ala287=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 1354370	NM_000324.3(RHAG):c.1067+3G>A	RHAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1340034	GRCh37/hg19 6p12.3(chr6:49459881-50012992)x1	C6orf141, CENPQ +10 more	Copy number loss	not provided	GUncertain significance
Select item 1323529	NM_000324.3(RHAG):c.471C>A (p.Tyr157Ter)	RHAG (Y157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1322015	NM_000324.3(RHAG):c.140T>C (p.Phe47Ser)	RHAG (F47S)	Single nucleotide variant (missense variant)	altered red cell phenotype	GAffects
Select item 1297957	NM_000324.3(RHAG):c.341+260G>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296822	NM_000324.3(RHAG):c.808-311T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282036	NM_000324.3(RHAG):c.945+76del	RHAG	Deletion (intron variant)	not provided	GBenign
Select item 1273508	NM_000324.3(RHAG):c.807+112G>A	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271298	NM_000324.3(RHAG):c.808-236A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270189	NM_000324.3(RHAG):c.807+280C>T	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269541	NM_000324.3(RHAG):c.808-300A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267811	NM_000324.3(RHAG):c.641-51G>A	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241378	NM_000324.3(RHAG):c.946-171C>T	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234058	NM_000324.3(RHAG):c.946-100T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229804	NM_000324.3(RHAG):c.158-152A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228066	NM_000324.3(RHAG):c.158-267T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221020	NM_000324.3(RHAG):c.1212+207C>A	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183810	NM_000324.3(RHAG):c.946-18T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179802	NM_000324.3(RHAG):c.158-298T>G	RHAG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163266	NM_000324.3(RHAG):c.341+4A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1163265	NM_000324.3(RHAG):c.1068-26T>C	RHAG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1068333	NM_000324.3(RHAG):c.1139-2A>G	RHAG	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1050684	NM_000324.3(RHAG):c.1147C>A (p.Leu383Ile)	RHAG (L383I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1048967	NM_000324.3(RHAG):c.209C>T (p.Thr70Ile)	RHAG (T70I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 979548	GRCh37/hg19 6p12.3(chr6:48566675-50063411)x1	PGK2, DEFB113 +11 more	Copy number loss	not provided	GUncertain significance
Select item 814811	GRCh37/hg19 6p12.3(chr6:49459881-50024153)x1	DEFB113, C6orf141 +10 more	Copy number loss	not provided	GUncertain significance
Select item 792184	NM_000324.3(RHAG):c.1067+8A>G	RHAG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741788	NM_000324.3(RHAG):c.990C>T (p.Val330=)	RHAG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688387	GRCh37/hg19 6p12.3(chr6:48617762-49836065)x3	C6orf141, CENPQ +7 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 438647	NM_000324.3(RHAG):c.1007T>C (p.Leu336Ser)	RHAG (L336S)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GUncertain significance
Select item 438646	NM_000324.3(RHAG):c.447T>G (p.Ile149Met)	RHAG (I149M)	Single nucleotide variant (missense variant)	Overhydrated hereditary stomatocytosis	GPathogenic
Select item 253810	GRCh37/hg19 6p12.3(chr6:48682849-49834213)x3	RHAG, CENPQ +7 more	Copy number gain	See cases	GUncertain significance
Select item 242719	NM_000324.3(RHAG):c.838G>A (p.Gly280Arg)	RHAG (G280R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 225454	NM_000324.3(RHAG):c.808G>A (p.Val270Ile)	RHAG (V270I)	Single nucleotide variant (missense variant)	Rh-null, regulator type +2 more	GBenign/Likely benign

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