SNPH[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 3166992	NM_001318234.2(SNPH):c.284C>T (p.Thr95Met)	SNPH (T51M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321191	NM_001318234.2(SNPH):c.308C>T (p.Thr103Met)	SNPH (T59M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341088	NM_001318234.2(SNPH):c.316A>T (p.Ser106Cys)	SNPH (S62C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460371	NM_001318234.2(SNPH):c.426C>A (p.Asp142Glu)	SNPH (D142E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166993	NM_001318234.2(SNPH):c.580G>C (p.Asp194His)	SNPH (D150H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312911	NM_001318234.2(SNPH):c.607A>C (p.Lys203Gln)	SNPH (K203Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229441	NM_001318234.2(SNPH):c.610G>A (p.Asp204Asn)	SNPH (D204N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614497	NM_001318234.2(SNPH):c.844G>A (p.Glu282Lys)	SNPH (E282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331273	NM_001318234.2(SNPH):c.880G>A (p.Asp294Asn)	SNPH (D294N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480738	NM_001318234.2(SNPH):c.923T>C (p.Leu308Pro)	SNPH (L308P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456789	NM_001318234.2(SNPH):c.1007C>A (p.Thr336Asn)	SNPH (T336N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239560	NM_001318234.2(SNPH):c.1057A>T (p.Met353Leu)	SNPH (M353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600194	NM_001318234.2(SNPH):c.1066C>T (p.Arg356Cys)	SNPH (R356C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310146	NM_001318234.2(SNPH):c.1175G>A (p.Cys392Tyr)	SNPH (C348Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460516	NM_001318234.2(SNPH):c.1291C>T (p.Arg431Trp)	SNPH (R387W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257980	NM_001318234.2(SNPH):c.1322C>T (p.Ser441Leu)	SNPH (S397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307691	NM_001318234.2(SNPH):c.1386G>C (p.Lys462Asn)	SNPH (K418N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315311	NM_001318234.2(SNPH):c.1448C>T (p.Thr483Met)	SNPH (T439M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321190	NM_001318234.2(SNPH):c.1466G>A (p.Arg489His)	SNPH (R489H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217164	NM_001318234.2(SNPH):c.1591C>A (p.Pro531Thr)	SNPH (P531T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592302	NM_001318234.2(SNPH):c.1600G>A (p.Gly534Ser)	SNPH (G490S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166991	NM_001318234.2(SNPH):c.1604G>A (p.Gly535Asp)	SNPH (G535D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1809250	GRCh37/hg19 20p13(chr20:992980-1481478)x4	C20orf202, FKBP1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808289	GRCh37/hg19 20p13(chr20:1015167-1403720)x3	C20orf202, FKBP1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443574	GRCh37/hg19 20p13(chr20:381794-1268103)x3	ANGPT4, C20orf202 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +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 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 68