ClinVar for Gene (Select 54496) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376298	NM_019023.5(PRMT7):c.1055+2T>A	PRMT7	Single nucleotide variant (splice donor variant)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
Select item 3369269	NM_019023.5(PRMT7):c.1126C>T (p.Arg376Trp)	PRMT7 (R297W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3343763	NM_019023.5(PRMT7):c.1469A>G (p.Asn490Ser)	PRMT7 (N411S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343502	NM_019023.5(PRMT7):c.2071C>T (p.Pro691Ser)	PRMT7 (P612S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 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 3310252	NM_019023.5(PRMT7):c.1583G>T (p.Trp528Leu)	PRMT7 (W529L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3310251	NM_019023.5(PRMT7):c.1058C>T (p.Pro353Leu)	PRMT7 (P284L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3310250	NM_019023.5(PRMT7):c.1964C>T (p.Ala655Val)	PRMT7 (A586V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3256988	NM_019023.5(PRMT7):c.1017C>T (p.His339=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3254663	NM_019023.5(PRMT7):c.1678del (p.Glu560fs)	PRMT7 (E481fs +4 more)	Deletion (frameshift variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 3236051	NM_019023.5(PRMT7):c.1173C>G (p.Tyr391Ter)	PRMT7 (Y312* +3 more)	Single nucleotide variant (nonsense +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
Select item 3220889	NM_019023.5(PRMT7):c.937C>T (p.His313Tyr)	PRMT7 (H313Y +3 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GLikely pathogenic
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 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 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 3218953	NM_019023.5(PRMT7):c.2055C>G (p.Phe685Leu)	PRMT7 (F606L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218952	NM_019023.5(PRMT7):c.1898C>T (p.Ala633Val)	PRMT7 (A633V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218951	NM_019023.5(PRMT7):c.1586G>A (p.Arg529Gln)	PRMT7 (R450Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218950	NM_019023.5(PRMT7):c.1288G>C (p.Glu430Gln)	PRMT7 (E351Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218949	NM_019023.5(PRMT7):c.1252G>T (p.Ala418Ser)	PRMT7 (A339S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218948	NM_019023.5(PRMT7):c.1024T>A (p.Tyr342Asn)	PRMT7 (Y292N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3069131	NM_019023.5(PRMT7):c.1168C>T (p.Arg390Ter)	PRMT7 (R340* +3 more)	Single nucleotide variant (nonsense +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
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 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 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
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 3055176	NM_019023.5(PRMT7):c.1789G>A (p.Glu597Lys)	PRMT7 (E518K +4 more)	Single nucleotide variant (missense variant +1 more)	PRMT7-related disorder	GLikely benign
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 3025898	NM_019023.5(PRMT7):c.*636G>A	PRMT7	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 3023407	NM_019023.5(PRMT7):c.282+16C>G	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022587	NM_019023.5(PRMT7):c.1191+17T>C	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021727	NM_019023.5(PRMT7):c.1908+17G>A	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996373	NM_019023.5(PRMT7):c.1276-17C>T	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977358	NM_019023.5(PRMT7):c.1071G>A (p.Glu357=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967716	NM_019023.5(PRMT7):c.96-11_96-10del	PRMT7	Deletion (intron variant)	not provided	GLikely benign
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 2958495	NM_019023.5(PRMT7):c.132+22_132+24del	PRMT7	Microsatellite (intron variant)	not provided	GBenign
Select item 2955395	NM_019023.5(PRMT7):c.1324-12T>G	PRMT7	Single nucleotide variant (intron variant)	not provided	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 2907739	NM_019023.5(PRMT7):c.1695G>A (p.Pro565=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907672	NM_019023.5(PRMT7):c.1377G>A (p.Pro459=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905118	NM_019023.5(PRMT7):c.132+4A>C	PRMT7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2904876	NM_019023.5(PRMT7):c.1595G>C (p.Ser532Thr)	PRMT7 (S482T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2898035	NM_019023.5(PRMT7):c.1281T>C (p.Phe427=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886156	NM_019023.5(PRMT7):c.2019G>A (p.Glu673=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886056	NM_019023.5(PRMT7):c.1911G>A (p.Gly637=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872666	NM_019023.5(PRMT7):c.1909-9_1909-7del	PRMT7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2837807	NM_019023.5(PRMT7):c.505-20T>G	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2755786	NM_019023.5(PRMT7):c.928-7G>A	PRMT7	Single nucleotide variant (intron variant)	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 2730823	NM_019023.5(PRMT7):c.453C>T (p.Ile151=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2707314	NM_019023.5(PRMT7):c.1974C>T (p.Pro658=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2665073	NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)	PRMT7 (R472H +4 more)	Single nucleotide variant (missense variant +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	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 2646662	NM_019023.5(PRMT7):c.1944C>T (p.Ala648=)	PRMT7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2646661	NM_019023.5(PRMT7):c.1839A>G (p.Leu613=)	LOC130059279, PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646660	NM_019023.5(PRMT7):c.1651C>T (p.Arg551Cys)	PRMT7 (R472C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2646659	NM_019023.5(PRMT7):c.1576-60C>A	PRMT7 (L507M)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2646658	NM_019023.5(PRMT7):c.1515G>C (p.Gly505=)	PRMT7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2646657	NM_019023.5(PRMT7):c.1414-743C>T	PRMT7	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2646655	NM_019023.5(PRMT7):c.483C>T (p.His161=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2632846	NM_019023.5(PRMT7):c.931C>G (p.Arg311Gly)	PRMT7 (R232G +3 more)	Single nucleotide variant (missense variant +1 more)	PRMT7-related disorder	GUncertain significance
Select item 2615968	NM_019023.5(PRMT7):c.1634T>C (p.Met545Thr)	PRMT7 (M466T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605344	NM_019023.5(PRMT7):c.1373G>A (p.Arg458Gln)	PRMT7 (R408Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602080	NM_019023.5(PRMT7):c.1523C>T (p.Ala508Val)	PRMT7 (A429V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595636	NM_019023.5(PRMT7):c.2032A>G (p.Thr678Ala)	PRMT7 (T628A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2584590	NM_019023.5(PRMT7):c.1651-8G>A	PRMT7	Single nucleotide variant (intron variant)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GUncertain significance
Select item 2577129	NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)	PRMT7 (Q244* +3 more)	Single nucleotide variant (nonsense +1 more)	Short stature-brachydactyly-obesity-global developmental delay syndrome	GPathogenic
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 2575605	NM_019023.5(PRMT7):c.213TGGCAC[3] (p.Gly76_Leu77insThrGly)	PRMT7	Microsatellite (inframe_insertion +3 more)	not provided	GUncertain significance
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 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 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 2536336	NM_019023.5(PRMT7):c.2033C>G (p.Thr678Arg)	PRMT7 (T678R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2518449	NM_019023.5(PRMT7):c.1165G>A (p.Asp389Asn)	PRMT7 (D310N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2507506	NM_019023.5(PRMT7):c.1999A>C (p.Thr667Pro)	PRMT7 (T667P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 2485791	NM_019023.5(PRMT7):c.2018A>G (p.Glu673Gly)	PRMT7 (E594G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2454670	NM_019023.5(PRMT7):c.1556C>T (p.Ala519Val)	PRMT7 (A469V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2435253	NM_019023.5(PRMT7):c.1915T>C (p.Cys639Arg)	PRMT7 (C560R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2424241	NC_000016.9:g.(?_68349883)_(68732303_?)del	CDH3, PRMT7 +2 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2417807	NM_019023.5(PRMT7):c.1324-5C>T	PRMT7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2415274	NM_019023.5(PRMT7):c.1678G>A (p.Glu560Lys)	PRMT7 (E481K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414861	NM_019023.5(PRMT7):c.1632C>T (p.Ile544=)	PRMT7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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