54496[geneid] - ClinVar - NCBI

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	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	MIR138-2, MIR140 +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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 973432	NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg)	PRMT7, SLC7A6OS (Q64R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1301755	NM_019023.5(PRMT7):c.-221C>T	PRMT7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1803854	NM_019023.5(PRMT7):c.-218-3C>G	PRMT7	Single nucleotide variant (intron variant)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 2505775	NM_019023.5(PRMT7):c.-83-1G>A	PRMT7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1967109	NM_019023.5(PRMT7):c.29C>T (p.Pro10Leu)	PRMT7 (P10L)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 951784	NM_019023.5(PRMT7):c.77del (p.Tyr26fs)	PRMT7 (T6fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3218956	NM_019023.5(PRMT7):c.89T>C (p.Ile30Thr)	PRMT7 (I30T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 266022	NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr)	PRMT7 (R32T +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 2967716	NM_019023.5(PRMT7):c.96-11_96-10del	PRMT7	Deletion (intron variant)	not provided	GLikely benign
Select item 1323497	NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter)	PRMT7 (S33*)	Single nucleotide variant (nonsense +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 2905118	NM_019023.5(PRMT7):c.132+4A>C	PRMT7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958495	NM_019023.5(PRMT7):c.132+22_132+24del	PRMT7	Microsatellite (intron variant)	not provided	GBenign
Select item 2409345	NM_019023.5(PRMT7):c.139A>C (p.Lys47Gln)	PRMT7 (K47Q +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 984615	NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter)	PRMT7 (P17L +1 more)	Single nucleotide variant (nonsense +4 more)	Neurodevelopmental abnormality	GPathogenic
Select item 3336509	NM_019023.5(PRMT7):c.156C>G (p.Ile52Met)	PRMT7 (I52M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2407836	NM_019023.5(PRMT7):c.157C>T (p.Arg53Trp)	PRMT7 (P20L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3336507	NM_019023.5(PRMT7):c.164C>T (p.Ala55Val)	PRMT7 (A55V)	Single nucleotide variant (missense variant +4 more)	not specified	GUncertain significance
Select item 2243048	NM_019023.5(PRMT7):c.166G>A (p.Val56Met)	PRMT7 (V56M +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2575605	NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly)	PRMT7	Microsatellite (inframe_insertion +3 more)	not provided	GUncertain significance
Select item 3025692	NM_019023.5(PRMT7):c.222C>T (p.Gly74=)	PRMT7 (H42Y)	Single nucleotide variant (synonymous variant +4 more)	not provided	GLikely benign
Select item 1329859	NM_019023.5(PRMT7):c.224C>T (p.Thr75Met)	PRMT7 (T75M)	Single nucleotide variant (missense variant +4 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 2633254	NM_019023.5(PRMT7):c.236C>T (p.Ser79Leu)	PRMT7 (S79L)	Single nucleotide variant (missense variant +4 more)	PRMT7-related disorder	GUncertain significance
Select item 2502197	NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)	PRMT7 (A6E +2 more)	Single nucleotide variant (missense variant +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 2297810	NM_019023.5(PRMT7):c.257G>T (p.Gly86Val)	PRMT7 (G7V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2152622	NM_019023.5(PRMT7):c.259G>A (p.Ala87Thr)	PRMT7 (A87T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 748621	NM_019023.5(PRMT7):c.261C>T (p.Ala87=)	PRMT7 (R55*)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2470023	NM_019023.5(PRMT7):c.262G>A (p.Asp88Asn)	PRMT7 (R55Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 735659	NM_019023.5(PRMT7):c.279C>T (p.Ile93=)	PRMT7 (R61*)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1016001	NM_019023.5(PRMT7):c.280G>A (p.Glu94Lys)	PRMT7 (E15K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3065762	NM_019023.5(PRMT7):c.282+1G>A	PRMT7	Single nucleotide variant (splice donor variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 1032054	NM_019023.5(PRMT7):c.282+3A>G	PRMT7	Single nucleotide variant (intron variant)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 3023407	NM_019023.5(PRMT7):c.282+16C>G	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2234740	NM_019023.5(PRMT7):c.316A>G (p.Ile106Val)	PRMT7 (I56V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1310489	NM_019023.5(PRMT7):c.320T>G (p.Val107Gly)	PRMT7 (V107G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +17 more	GPathogenic/Likely pathogenic
Select item 1334191	NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)	PRMT7 (I116N +2 more)	Single nucleotide variant (missense variant +2 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 2965012	NM_019023.5(PRMT7):c.362A>G (p.Lys121Arg)	PRMT7 (K121R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1302524	NM_019023.5(PRMT7):c.374A>G (p.Glu125Gly)	PRMT7 (E125G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3310253	NM_019023.5(PRMT7):c.382G>C (p.Val128Leu)	PRMT7 (V49L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2307530	NM_019023.5(PRMT7):c.386G>A (p.Gly129Asp)	PRMT7 (G129D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1305249	NM_019023.5(PRMT7):c.391+5G>C	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1557068	NM_019023.5(PRMT7):c.391+13C>T	PRMT7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3218954	NM_019023.5(PRMT7):c.412G>A (p.Ala138Thr)	PRMT7 (A88T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 724850	NM_019023.5(PRMT7):c.420C>A (p.Ile140=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3060212	NM_019023.5(PRMT7):c.423G>A (p.Leu141=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	PRMT7-related disorder	GLikely benign
Select item 2914883	NM_019023.5(PRMT7):c.423G>C (p.Leu141=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522559	NM_019023.5(PRMT7):c.431_432del (p.Glu144fs)	PRMT7 (E144fs +3 more)	Microsatellite (frameshift variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 2730823	NM_019023.5(PRMT7):c.453C>T (p.Ile151=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1332826	NM_019023.5(PRMT7):c.457dup (p.Glu153fs)	PRMT7 (E103fs +3 more)	Duplication (frameshift variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 915395	NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg)	PRMT7 (G83R +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 1679315	NM_019023.5(PRMT7):c.455G>A (p.Gly152Glu)	PRMT7 (G102E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 985568	NM_019023.5(PRMT7):c.471del (p.Ser158fs)	PRMT7 (S108fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3366822	NM_019023.5(PRMT7):c.477T>A (p.Tyr159Ter)	PRMT7 (Y109* +3 more)	Single nucleotide variant (nonsense +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 2646655	NM_019023.5(PRMT7):c.483C>T (p.His161=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2575734	NM_019023.5(PRMT7):c.484G>A (p.Ala162Thr)	PRMT7 (A112T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1028135	NM_019023.5(PRMT7):c.499G>A (p.Val167Met)	PRMT7 (V117M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2153349	NM_019023.5(PRMT7):c.504+9C>T	PRMT7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2837807	NM_019023.5(PRMT7):c.505-20T>G	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2554213	NM_019023.5(PRMT7):c.521T>C (p.Val174Ala)	PRMT7 (V174A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2662767	NM_019023.5(PRMT7):c.524C>G (p.Pro175Arg)	PRMT7 (P106R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2362513	NM_019023.5(PRMT7):c.526C>T (p.His176Tyr)	PRMT7 (H107Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2116978	NM_019023.5(PRMT7):c.529A>G (p.Arg177Gly)	PRMT7 (R127G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1938293	NM_019023.5(PRMT7):c.535A>G (p.Thr179Ala)	PRMT7 (T100A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502168	NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)	PRMT7 (Y102C +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 1928789	NM_019023.5(PRMT7):c.576G>A (p.Ser192=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2330045	NM_019023.5(PRMT7):c.583A>G (p.Lys195Glu)	PRMT7 (K195E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777039	NM_019023.5(PRMT7):c.600C>T (p.His200=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2796746	NM_019023.5(PRMT7):c.618A>G (p.Gly206=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738487	NM_019023.5(PRMT7):c.621G>A (p.Glu207=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1098280	NM_019023.5(PRMT7):c.622del (p.Gln208fs)	PRMT7 (Q129fs +3 more)	Deletion (frameshift variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 3218955	NM_019023.5(PRMT7):c.630C>T (p.Ile210=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2544322	NM_019023.5(PRMT7):c.646G>A (p.Val216Met)	PRMT7 (V166M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310278	NM_019023.5(PRMT7):c.652A>G (p.Ser218Gly)	PRMT7 (S139G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1669132	NM_019023.5(PRMT7):c.708C>T (p.Ala236=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2646656	NM_019023.5(PRMT7):c.709G>A (p.Asp237Asn)	PRMT7 (D158N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 712114	NM_019023.5(PRMT7):c.732G>A (p.Val244=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1452152	NM_019023.5(PRMT7):c.735G>T (p.Leu245=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2533396	NM_019023.5(PRMT7):c.742T>G (p.Phe248Val)	PRMT7 (F248V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1989332	NM_019023.5(PRMT7):c.746+18T>C	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745387	NM_019023.5(PRMT7):c.747-4T>A	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575544	NM_019023.5(PRMT7):c.751G>A (p.Asp251Asn)	PRMT7 (D172N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 585047	NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)	PRMT7 (R274* +3 more)	Single nucleotide variant (nonsense +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2209795	NM_019023.5(PRMT7):c.821G>A (p.Arg274Gln)	PRMT7 (R205Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2515029	NM_019023.5(PRMT7):c.838T>A (p.Ser280Thr)	PRMT7 (S211T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1595886	NM_019023.5(PRMT7):c.840G>A (p.Ser280=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754073	NM_019023.5(PRMT7):c.847del (p.Asp283fs)	PRMT7 (D214fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3040374	NM_019023.5(PRMT7):c.876C>A (p.Ile292=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	PRMT7-related disorder	GLikely benign
Select item 1338150	NM_019023.5(PRMT7):c.879G>A (p.Lys293=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3067901	NM_019023.5(PRMT7):c.925C>G (p.Gln309Glu)	PRMT7 (Q230E +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 1098281	NM_019023.5(PRMT7):c.927G>T (p.Gln309His)	PRMT7 (Q230H +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 1561664	NM_019023.5(PRMT7):c.928-20G>A	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign

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