ClinVar for MedGen (Select 152667) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25846621.	NM_006662.3(SRCAP):c.9490G>A (p.Gly3164Arg) GRCh37: Chr16:30750851 GRCh38: Chr16:30739530	SRCAP	G3164R	Floating-Harbor syndrome	Uncertain significance	criteria provided, single submitter
Select item 24440932.	NM_006662.3(SRCAP):c.7236_7237del (p.Pro2413fs) GRCh37: Chr16:30748596-30748597 GRCh38: Chr16:30737275-30737276	SRCAP	P2413fs	Floating-Harbor syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24420993.	NM_006662.3(SRCAP):c.8303G>T (p.Arg2768Leu) GRCh37: Chr16:30749664 GRCh38: Chr16:30738343	SRCAP	R2768L	Floating-Harbor syndrome	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 24420524.	NM_006662.3(SRCAP):c.5470G>A (p.Val1824Met) GRCh37: Chr16:30736215 GRCh38: Chr16:30724894	SRCAP	V1824M	Floating-Harbor syndrome	Uncertain significance (Dec 16, 2021)	criteria provided, single submitter
Select item 24127425.	NM_006662.3(SRCAP):c.7364del (p.Pro2455fs) GRCh37: Chr16:30748724 GRCh38: Chr16:30737403	SRCAP	P2455fs	Floating-Harbor syndrome	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 18025996.	NM_006662.3(SRCAP):c.7937_7938del (p.Val2646fs) GRCh37: Chr16:30749292-30749293 GRCh38: Chr16:30737971-30737972	SRCAP	V2646fs	Floating-Harbor syndrome	Likely pathogenic (Nov 29, 2022)	criteria provided, single submitter
Select item 17104997.	NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro) GRCh37: Chr16:30745917 GRCh38: Chr16:30734596	SRCAP	Q2237P	Floating-Harbor syndrome	Uncertain significance (Jul 17, 2021)	criteria provided, single submitter
Select item 16993768.	NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn) GRCh37: Chr16:30723356 GRCh38: Chr16:30712035	SRCAP	D565N	Floating-Harbor syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16836429.	NM_006662.3(SRCAP):c.2816A>G (p.Gln939Arg) GRCh37: Chr16:30727799 GRCh38: Chr16:30716478	SRCAP	Q939R	Floating-Harbor syndrome	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 167518410.	NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter) GRCh37: Chr16:30749225 GRCh38: Chr16:30737904	SRCAP	Q2622*	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Pathogenic (Nov 6, 2020)	criteria provided, single submitter
Select item 166428911.	NM_006662.3(SRCAP):c.6495-5C>G GRCh37: Chr16:30745210 GRCh38: Chr16:30733889	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Benign/Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 166111812.	NM_006662.3(SRCAP):c.5658+15C>T GRCh37: Chr16:30736418 GRCh38: Chr16:30725097	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165963313.	NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=) GRCh37: Chr16:30749734 GRCh38: Chr16:30738413	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165179114.	NM_006662.3(SRCAP):c.492+12G>A GRCh37: Chr16:30718701 GRCh38: Chr16:30707380	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160257315.	NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) GRCh37: Chr16:30734479 GRCh38: Chr16:30723158	SRCAP	A1363G	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159930916.	NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) GRCh37: Chr16:30724867 GRCh38: Chr16:30713546	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159880717.	NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) GRCh37: Chr16:30749767 GRCh38: Chr16:30738446	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159880218.	NM_006662.3(SRCAP):c.492+11C>T GRCh37: Chr16:30718700 GRCh38: Chr16:30707379	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159827119.	NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) GRCh37: Chr16:30723277 GRCh38: Chr16:30711956	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159715720.	NM_006662.3(SRCAP):c.2655C>A (p.Gly885=) GRCh37: Chr16:30727638 GRCh38: Chr16:30716317	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159669021.	NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=) GRCh37: Chr16:30732229 GRCh38: Chr16:30720908	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159484622.	NM_006662.3(SRCAP):c.1135-14C>T GRCh37: Chr16:30722061 GRCh38: Chr16:30710740	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159244123.	NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) GRCh37: Chr16:30732775 GRCh38: Chr16:30721454	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159204024.	NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) GRCh37: Chr16:30750343 GRCh38: Chr16:30739022	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 159099625.	NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=) GRCh37: Chr16:30736085 GRCh38: Chr16:30724764	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158154126.	NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) GRCh37: Chr16:30749138 GRCh38: Chr16:30737817	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156122327.	NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) GRCh37: Chr16:30745871 GRCh38: Chr16:30734550	SRCAP	V2222M	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155920428.	NM_006662.3(SRCAP):c.3542-5T>C GRCh37: Chr16:30733438 GRCh38: Chr16:30722117	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155879529.	NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=) GRCh37: Chr16:30749896 GRCh38: Chr16:30738575	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Likely benign (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 155116930.	NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys) GRCh37: Chr16:30750923 GRCh38: Chr16:30739602	SRCAP	R3188C	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154845831.	NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu) GRCh37: Chr16:30749211 GRCh38: Chr16:30737890	SRCAP	P2617L	not provided, Inborn genetic diseases, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154089132.	NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) GRCh37: Chr16:30736067 GRCh38: Chr16:30724746	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Mar 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152970233.	NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr) GRCh37: Chr16:30749748 GRCh38: Chr16:30738427	SRCAP	M2796T	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Aug 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150973534.	NM_006662.3(SRCAP):c.8414T>C (p.Ile2805Thr) GRCh37: Chr16:30749775 GRCh38: Chr16:30738454	SRCAP	I2805T	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150410235.	NM_006662.3(SRCAP):c.4243A>C (p.Met1415Leu) GRCh37: Chr16:30734988 GRCh38: Chr16:30723667	SRCAP	M1415L	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150118536.	NM_006662.3(SRCAP):c.6050G>A (p.Arg2017Gln) GRCh37: Chr16:30740816 GRCh38: Chr16:30729495	SRCAP	R2017Q	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150106537.	NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu) GRCh37: Chr16:30736222 GRCh38: Chr16:30724901	SRCAP	S1826L	Inborn genetic diseases, not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150098438.	NM_006662.3(SRCAP):c.5150C>T (p.Ser1717Leu) GRCh37: Chr16:30735895 GRCh38: Chr16:30724574	SRCAP	S1717L	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149737839.	NM_006662.3(SRCAP):c.2956C>T (p.Arg986Trp) GRCh37: Chr16:30731621 GRCh38: Chr16:30720300	SRCAP	R986W	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149541440.	NM_006662.3(SRCAP):c.8693C>G (p.Pro2898Arg) GRCh37: Chr16:30750054 GRCh38: Chr16:30738733	SRCAP	P2898R	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149024741.	NM_006662.3(SRCAP):c.2130+6A>T GRCh37: Chr16:30724142 GRCh38: Chr16:30712821	SRCAP		Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148816442.	NM_006662.3(SRCAP):c.9193C>T (p.Arg3065Cys) GRCh37: Chr16:30750554 GRCh38: Chr16:30739233	SRCAP	R3065C	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147556643.	NM_006662.3(SRCAP):c.8798C>T (p.Pro2933Leu) GRCh37: Chr16:30750159 GRCh38: Chr16:30738838	SRCAP	P2933L	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146393944.	NM_006662.3(SRCAP):c.5404G>A (p.Ala1802Thr) GRCh37: Chr16:30736149 GRCh38: Chr16:30724828	SRCAP	A1802T	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145071845.	NM_006662.3(SRCAP):c.3025G>C (p.Val1009Leu) GRCh37: Chr16:30732071 GRCh38: Chr16:30720750	SRCAP	V1009L	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144572646.	NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp) GRCh37: Chr16:30740335 GRCh38: Chr16:30729014	SRCAP	R1903W	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144417447.	NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) GRCh37: Chr16:30736263 GRCh38: Chr16:30724942	SRCAP	R1840W	Inborn genetic diseases, not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Conflicting interpretations of pathogenicity (Aug 19, 2023)	criteria provided, conflicting interpretations
Select item 144174648.	NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) GRCh37: Chr16:30727631 GRCh38: Chr16:30716310	SRCAP	A883G	Inborn genetic diseases, not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Conflicting interpretations of pathogenicity (Jan 24, 2022)	criteria provided, conflicting interpretations
Select item 143705849.	NM_006662.3(SRCAP):c.492+3A>G GRCh37: Chr16:30718692 GRCh38: Chr16:30707371	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142167250.	NM_006662.3(SRCAP):c.278A>G (p.His93Arg) GRCh37: Chr16:30715608 GRCh38: Chr16:30704287	SRCAP	H93R	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Jan 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141966451.	NM_006662.3(SRCAP):c.3481G>A (p.Ala1161Thr) GRCh37: Chr16:30732737 GRCh38: Chr16:30721416	SRCAP	A1161T	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Inborn genetic diseases, not provided	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 141538552.	NM_006662.3(SRCAP):c.5216C>T (p.Pro1739Leu) GRCh37: Chr16:30735961 GRCh38: Chr16:30724640	SRCAP	P1739L	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139961453.	NM_006662.3(SRCAP):c.3587G>A (p.Arg1196His) GRCh37: Chr16:30733488 GRCh38: Chr16:30722167	SRCAP	R1196H	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139889054.	NM_006662.3(SRCAP):c.2897G>A (p.Arg966Gln) GRCh37: Chr16:30731562 GRCh38: Chr16:30720241	SRCAP	R966Q	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139701955.	NM_006662.3(SRCAP):c.4471C>T (p.Pro1491Ser) GRCh37: Chr16:30735216 GRCh38: Chr16:30723895	SRCAP	P1491S	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139492356.	NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val) GRCh37: Chr16:30750858 GRCh38: Chr16:30739537	SRCAP	E3166V	Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137853357.	NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala) GRCh37: Chr16:30750350 GRCh38: Chr16:30739029	SRCAP	T2997A	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136984858.	NM_006662.3(SRCAP):c.7352C>T (p.Pro2451Leu) GRCh37: Chr16:30748713 GRCh38: Chr16:30737392	SRCAP	P2451L	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Uncertain significance (Feb 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 136802659.	NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle) GRCh37: Chr16:30740477-30740478 GRCh38: Chr16:30729156-30729157	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Uncertain significance (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136051860.	NM_006662.3(SRCAP):c.1611G>C (p.Gln537His) GRCh37: Chr16:30723274 GRCh38: Chr16:30711953	SRCAP	Q537H	not provided, Inborn genetic diseases, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Conflicting interpretations of pathogenicity (Jul 2, 2022)	criteria provided, conflicting interpretations
Select item 135927761.	NM_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) GRCh37: Chr16:30732510 GRCh38: Chr16:30721189	SRCAP	V1085A	Inborn genetic diseases, not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Conflicting interpretations of pathogenicity (Feb 16, 2023)	criteria provided, conflicting interpretations
Select item 135619662.	NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala) GRCh37: Chr16:30735333 GRCh38: Chr16:30724012	SRCAP	T1530A	not provided, Inborn genetic diseases, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 135605463.	NM_006662.3(SRCAP):c.4723C>T (p.Pro1575Ser) GRCh37: Chr16:30735468 GRCh38: Chr16:30724147	SRCAP	P1575S	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135560064.	NM_006662.3(SRCAP):c.2402G>A (p.Arg801His) GRCh37: Chr16:30724941 GRCh38: Chr16:30713620	SRCAP	R801H	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135288865.	NM_006662.3(SRCAP):c.2883C>T (p.Asp961=) GRCh37: Chr16:30731548 GRCh38: Chr16:30720227	SRCAP		Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Likely benign (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135224766.	NM_006662.3(SRCAP):c.6157C>T (p.Arg2053Trp) GRCh37: Chr16:30744630 GRCh38: Chr16:30733309	SRCAP	R2053W	Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134755067.	NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val) GRCh37: Chr16:30732096 GRCh38: Chr16:30720775	SRCAP	A1017V	Inborn genetic diseases, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 7, 2021)	criteria provided, conflicting interpretations
Select item 134361668.	NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) GRCh37: Chr16:30749766 GRCh38: Chr16:30738445	SRCAP	S2802F	not specified, not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134328869.	NM_006662.3(SRCAP):c.4243dup (p.Met1415fs) GRCh37: Chr16:30734986-30734987 GRCh38: Chr16:30723665-30723666	SRCAP	M1415fs	Floating-Harbor syndrome	Uncertain significance (Jan 26, 2021)	criteria provided, single submitter
Select item 134244570.	NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln) GRCh37: Chr16:30736357 GRCh38: Chr16:30725036	SRCAP	R1871Q	not provided, Floating-Harbor syndrome	Uncertain significance (May 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133461371.	NM_006662.3(SRCAP):c.1279G>A (p.Val427Met) GRCh37: Chr16:30722370 GRCh38: Chr16:30711049	SRCAP	V427M	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Uncertain significance (May 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133312272.	NM_006662.3(SRCAP):c.2064G>T (p.Arg688=) GRCh37: Chr16:30724070 GRCh38: Chr16:30712749	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132559973.	NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala) GRCh37: Chr16:30749105 GRCh38: Chr16:30737784	SRCAP	P2582A	Floating-Harbor syndrome	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter
Select item 132559774.	NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg) GRCh37: Chr16:30732225 GRCh38: Chr16:30720904	SRCAP	L1060R	Floating-Harbor syndrome	Uncertain significance (Apr 29, 2020)	criteria provided, single submitter
Select item 132032675.	NM_006662.3(SRCAP):c.7218dup (p.Gln2407fs) GRCh37: Chr16:30748578-30748579 GRCh38: Chr16:30737257-30737258	SRCAP	Q2407fs	Floating-Harbor syndrome	Pathogenic (Nov 8, 2021)	no assertion criteria provided
Select item 121375676.	NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala) GRCh37: Chr16:30736027 GRCh38: Chr16:30724706	SRCAP	G1761A	not provided, Floating-Harbor syndrome	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118493677.	NM_006662.3(SRCAP):c.9229C>T (p.Arg3077Ter) GRCh37: Chr16:30750590 GRCh38: Chr16:30739269	SRCAP	R3077*	Floating-Harbor syndrome	Likely pathogenic (Dec 7, 2022)	criteria provided, single submitter
Select item 103313378.	NM_006662.3(SRCAP):c.3721C>T (p.Leu1241Phe) GRCh37: Chr16:30733898 GRCh38: Chr16:30722577	SRCAP	L1241F	Floating-Harbor syndrome	Uncertain significance (Nov 16, 2018)	criteria provided, single submitter
Select item 103313279.	NM_006662.3(SRCAP):c.316A>G (p.Ile106Val) GRCh37: Chr16:30718513 GRCh38: Chr16:30707192	SRCAP	I106V	Floating-Harbor syndrome	Uncertain significance (Jan 30, 2018)	criteria provided, single submitter
Select item 103313180.	NM_006662.3(SRCAP):c.2125C>T (p.Arg709Trp) GRCh37: Chr16:30724131 GRCh38: Chr16:30712810	SRCAP	R709W	not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome, Floating-Harbor syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103012981.	NM_006662.3(SRCAP):c.954G>T (p.Arg318Ser) GRCh37: Chr16:30721269 GRCh38: Chr16:30709948	SRCAP	R318S	Floating-Harbor syndrome	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 103012882.	NM_006662.3(SRCAP):c.5813C>G (p.Pro1938Arg) GRCh37: Chr16:30740441 GRCh38: Chr16:30729120	SRCAP	P1938R	Floating-Harbor syndrome	Uncertain significance (Jul 31, 2019)	criteria provided, single submitter
Select item 103012683.	NM_006662.3(SRCAP):c.4105A>T (p.Thr1369Ser) GRCh37: Chr16:30734496 GRCh38: Chr16:30723175	SRCAP	T1369S	Floating-Harbor syndrome	Uncertain significance (Jul 14, 2019)	criteria provided, single submitter
Select item 103012584.	NM_006662.3(SRCAP):c.196G>A (p.Gly66Ser) GRCh37: Chr16:30715526 GRCh38: Chr16:30704205	SRCAP	G66S	Floating-Harbor syndrome	Uncertain significance (Mar 21, 2020)	criteria provided, single submitter
Select item 103012485.	NM_006662.3(SRCAP):c.1429T>A (p.Cys477Ser) GRCh37: Chr16:30723002 GRCh38: Chr16:30711681	SRCAP	C477S	Floating-Harbor syndrome	Uncertain significance (Jan 29, 2019)	criteria provided, single submitter
Select item 99801986.	NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter) GRCh37: Chr16:30748550 GRCh38: Chr16:30737229	SRCAP	E2397*	Floating-Harbor syndrome	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99688787.	NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) GRCh37: Chr16:30721388 GRCh38: Chr16:30710067	SRCAP	D358G	not provided, Floating-Harbor syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98873188.	NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter) GRCh37: Chr16:30748580 GRCh38: Chr16:30737259	SRCAP	Q2407*	not provided	Pathogenic (Sep 15, 2023)	criteria provided, single submitter
Select item 98290589.	NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu) GRCh37: Chr16:30749354 GRCh38: Chr16:30738033	SRCAP	Q2665E	Floating-Harbor syndrome	Likely benign (Jan 1, 2019)	criteria provided, single submitter
Select item 98265090.	NM_006662.3(SRCAP):c.3287C>A (p.Thr1096Asn) GRCh37: Chr16:30732543 GRCh38: Chr16:30721222	SRCAP	T1096N	Floating-Harbor syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 98112291.	NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) GRCh37: Chr16:30748881 GRCh38: Chr16:30737560	SRCAP	P2507L	not specified, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Uncertain significance (Aug 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93045092.	NM_006662.3(SRCAP):c.5704G>A (p.Glu1902Lys) GRCh37: Chr16:30740332 GRCh38: Chr16:30729011	SRCAP	E1902K	Floating-Harbor syndrome	Uncertain significance (Apr 23, 2019)	criteria provided, single submitter
Select item 91631293.	NM_006662.3(SRCAP):c.1350G>A (p.Gln450=) GRCh37: Chr16:30722923 GRCh38: Chr16:30711602	SRCAP		Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, not provided	Likely benign (Jan 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80324994.	NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro) GRCh37: Chr16:30727735 GRCh38: Chr16:30716414	SRCAP	T918P	Floating-Harbor syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 79514695.	NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) GRCh37: Chr16:30722369 GRCh38: Chr16:30711048	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Benign/Likely benign (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 78868396.	NM_006662.3(SRCAP):c.8760A>G (p.Gly2920=) GRCh37: Chr16:30750121 GRCh38: Chr16:30738800	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77148697.	NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=) GRCh37: Chr16:30727452 GRCh38: Chr16:30716131	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76505798.	NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) GRCh37: Chr16:30733577 GRCh38: Chr16:30722256	SRCAP	L1226V	not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Benign/Likely benign (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76022199.	NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=) GRCh37: Chr16:30748897 GRCh38: Chr16:30737576	SRCAP		not provided, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, Floating-Harbor syndrome	Likely benign (Jul 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 755132100.	NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) GRCh37: Chr16:30750319 GRCh38: Chr16:30738998	SRCAP		not provided, Floating-Harbor syndrome, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts

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