ClinVar for Gene (Select 655) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064817	NM_001719.3(BMP7):c.866G>A (p.Arg289His)	BMP7 (R289H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 12	GUncertain significance
Select item 3054580	NM_001719.3(BMP7):c.1104C>T (p.Asn368=)	BMP7	Single nucleotide variant (synonymous variant)	BMP7-related condition	GLikely benign
Select item 3044572	NM_001719.3(BMP7):c.147G>A (p.Gln49=)	BMP7	Single nucleotide variant (synonymous variant)	BMP7-related condition	GLikely benign
Select item 3002769	NM_001719.3(BMP7):c.346C>T (p.Pro116Ser)	BMP7 (P116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975988	NM_001719.3(BMP7):c.611+14G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910832	NM_001719.3(BMP7):c.718C>T (p.Arg240Trp)	BMP7 (R240W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900742	NM_001719.3(BMP7):c.867C>T (p.Arg289=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844757	NM_001719.3(BMP7):c.525G>T (p.Arg175=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800720	NM_001719.3(BMP7):c.721C>T (p.His241Tyr)	BMP7 (H241Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747860	NM_001719.3(BMP7):c.161T>C (p.Met54Thr)	BMP7 (M54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736973	NM_001719.3(BMP7):c.907C>T (p.Arg303Cys)	BMP7 (R303C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714163	NM_001719.3(BMP7):c.573G>T (p.Arg191=)	BMP7	Single nucleotide variant (synonymous variant)	BMP7-related condition +1 more	GBenign/Likely benign
Select item 2693746	NM_001719.3(BMP7):c.1044C>T (p.Ile348=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2688672	NM_001719.3(BMP7):c.1156A>G (p.Ile386Val)	BMP7 (I386V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634610	NM_001719.3(BMP7):c.743C>T (p.Ser248Leu)	BMP7 (S248L)	Single nucleotide variant (missense variant)	BMP7-related condition	GUncertain significance
Select item 2634509	NM_001719.3(BMP7):c.478C>T (p.Leu160Phe)	BMP7 (L160F)	Single nucleotide variant (missense variant)	BMP7-related condition	GUncertain significance
Select item 2629845	NM_001719.3(BMP7):c.986C>G (p.Ala329Gly)	BMP7 (A329G)	Single nucleotide variant (missense variant)	BMP7-related condition	GUncertain significance
Select item 2628678	NM_001719.3(BMP7):c.1243G>A (p.Val415Ile)	BMP7 (V415I)	Single nucleotide variant (missense variant)	BMP7-related condition	GUncertain significance
Select item 2614545	NM_001719.3(BMP7):c.36C>G (p.His12Gln)	BMP7 (H12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599308	NM_001719.3(BMP7):c.550C>G (p.Arg184Gly)	BMP7 (R184G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2569759	NM_001719.3(BMP7):c.544C>T (p.Arg182Trp)	BMP7 (R182W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511219	NM_001719.3(BMP7):c.851C>T (p.Thr284Met)	BMP7 (T284M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498886	NM_001719.3(BMP7):c.-145G>A	BMP7, LOC109461473	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2492663	NM_001719.3(BMP7):c.1196C>T (p.Thr399Met)	BMP7 (T399M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484465	NM_001719.3(BMP7):c.656C>T (p.Ser219Leu)	BMP7 (S219L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463206	NM_001719.3(BMP7):c.881C>T (p.Thr294Met)	BMP7 (T294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395439	NM_001719.3(BMP7):c.280G>A (p.Glu94Lys)	BMP7 (E94K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329451	NM_001719.3(BMP7):c.1204A>C (p.Asn402His)	BMP7 (N402H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325100	NM_001719.3(BMP7):c.269T>G (p.Met90Arg)	BMP7 (M90R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320895	NM_001719.3(BMP7):c.413A>G (p.Asn138Ser)	BMP7 (N138S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298542	NM_001719.3(BMP7):c.1049C>T (p.Ala350Val)	BMP7 (A350V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227808	NM_001719.3(BMP7):c.857T>C (p.Val286Ala)	BMP7 (V286A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209382	NM_001719.3(BMP7):c.884G>A (p.Gly295Glu)	BMP7 (G295E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177081	NM_001719.3(BMP7):c.449G>A (p.Arg150His)	BMP7 (R150H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166989	NM_001719.3(BMP7):c.255C>A (p.Asp85Glu)	BMP7 (D85E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2154682	NM_001719.3(BMP7):c.516C>T (p.Ala172=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066422	NM_001719.3(BMP7):c.1090G>T (p.Ala364Ser)	BMP7 (A364S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063533	NM_001719.3(BMP7):c.786G>A (p.Ala262=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2044967	NM_001719.3(BMP7):c.478C>G (p.Leu160Val)	BMP7 (L160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037439	NM_001719.3(BMP7):c.807G>A (p.Gly269=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1896815	NM_001719.3(BMP7):c.592C>T (p.Leu198Phe)	BMP7 (L198F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702936	NM_001719.3(BMP7):c.945G>A (p.Met315Ile)	BMP7 (M315I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1702935	NM_001719.3(BMP7):c.847G>A (p.Ala283Thr)	BMP7 (A283T)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GBenign
Select item 1702934	NM_001719.3(BMP7):c.523C>T (p.Arg175Trp)	BMP7 (R175W)	Single nucleotide variant (missense variant)	Congenital heart defects, multiple types, 4	GPathogenic
Select item 1702933	NM_001719.3(BMP7):c.254A>T (p.Asp85Val)	BMP7 (D85V)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	not provided	GUncertain significance
Select item 1317274	NM_001719.3(BMP7):c.612-117G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316902	NM_001719.3(BMP7):c.418+172C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316829	NM_001719.3(BMP7):c.958+54C>T	BMP7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316341	NM_001719.3(BMP7):c.-146C>T	BMP7, LOC109461473	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1315742	NM_001719.3(BMP7):c.1146+151dup	BMP7	Duplication (intron variant)	not provided	GLikely benign
Select item 1296942	NM_001719.3(BMP7):c.611+176G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291873	NM_001719.3(BMP7):c.958+216G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286946	NM_001719.3(BMP7):c.1146+192G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286479	NR_171651.1(LOC112268270):n.322C>A	BMP7, LOC109461473 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1285787	NM_001719.3(BMP7):c.597G>A (p.Gln199=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276354	NM_001719.3(BMP7):c.-363C>T	BMP7, LOC109461473 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1275600	NM_001719.3(BMP7):c.760+180A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273116	NM_001719.3(BMP7):c.1147-152A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272402	NM_001719.3(BMP7):c.761-73A>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261546	NM_001719.3(BMP7):c.761-73A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259066	NM_001719.3(BMP7):c.279G>A (p.Glu93=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1258246	NM_001719.3(BMP7):c.1035+206T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249651	NM_001719.3(BMP7):c.1036-341_1036-337del	BMP7	Microsatellite (intron variant)	not provided	GBenign
Select item 1242634	NM_001719.3(BMP7):c.1146+50C>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241318	NM_001719.3(BMP7):c.958+123T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238833	NM_001719.3(BMP7):c.959-141C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232990	NM_001719.3(BMP7):c.611+6228C>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232667	NM_001719.3(BMP7):c.761-182A>G	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225889	NM_001719.3(BMP7):c.958+296del	BMP7	Deletion (intron variant)	not provided	GBenign
Select item 1225510	NM_001719.3(BMP7):c.418+283G>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224759	NM_001719.3(BMP7):c.958+186T>C	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221117	NM_001719.3(BMP7):c.418+227G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 809278	GRCh37/hg19 20q13.31(chr20:55758778-55758975)x1	BMP7	Copy number loss	not provided	GLikely benign
Select item 785661	NM_001719.3(BMP7):c.612-5C>T	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771049	NM_001719.3(BMP7):c.962A>G (p.Asn321Ser)	BMP7 (N321S)	Single nucleotide variant (missense variant)	BMP7-related condition +1 more	GBenign
Select item 714821	NM_001719.3(BMP7):c.456C>T (p.His152=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710158	NM_001719.3(BMP7):c.1035+6G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710157	NM_001719.3(BMP7):c.1215C>T (p.Ser405=)	BMP7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 667564	NM_001719.3(BMP7):c.611+136G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667563	NM_001719.3(BMP7):c.419-210G>A	BMP7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 521477	NM_001719.3(BMP7):c.157G>A (p.Glu53Lys)	BMP7 (E53K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521039	NM_001719.3(BMP7):c.457del (p.His153fs)	BMP7 (H153fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 224337	NM_001719.3(BMP7):c.334A>G (p.Ser112Gly)	BMP7 (S112G)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 224336	NM_001719.3(BMP7):c.900C>G (p.Ser300Arg)	BMP7 (S300R)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 224335	NM_001719.3(BMP7):c.752C>T (p.Thr251Met)	BMP7 (T251M)	Single nucleotide variant (missense variant)	Congenital anomaly of kidney and urinary tract	GUncertain significance
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	ABHD16B, ADRM1 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic

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