SDR42E1[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 59518	GRCh38/hg38 16q23.3-24.1(chr16:81753762-85714791)x1	ADAD2, ATP2C2 +211 more	Copy number loss	See cases	GPathogenic
Select item 153494	GRCh38/hg38 16q23.3(chr16:81949018-82802743)x3	CDH13, HSD17B2 +27 more	Copy number gain	See cases	GUncertain significance
Select item 2268080	NM_145168.3(SDR42E1):c.1172T>C (p.Leu391Pro)	SDR42E1 (L391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159066	NM_145168.3(SDR42E1):c.1163C>T (p.Ser388Phe)	SDR42E1 (S388F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383948	NM_145168.3(SDR42E1):c.1153C>A (p.Leu385Met)	SDR42E1 (L385M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539110	NM_145168.3(SDR42E1):c.1111G>C (p.Gly371Arg)	SDR42E1 (G371R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327253	NM_145168.3(SDR42E1):c.1091C>T (p.Ser364Leu)	SDR42E1 (S364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368118	NM_145168.3(SDR42E1):c.1064A>G (p.His355Arg)	SDR42E1 (H355R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349872	NM_145168.3(SDR42E1):c.1000C>A (p.Leu334Ile)	SDR42E1 (L334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316992	NM_145168.3(SDR42E1):c.914A>G (p.Tyr305Cys)	SDR42E1 (Y305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159073	NM_145168.3(SDR42E1):c.875T>C (p.Phe292Ser)	SDR42E1 (F292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289618	NM_145168.3(SDR42E1):c.800G>A (p.Arg267Gln)	SDR42E1 (R267Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545970	NM_145168.3(SDR42E1):c.788T>C (p.Phe263Ser)	SDR42E1 (F263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545969	NM_145168.3(SDR42E1):c.787T>A (p.Phe263Ile)	SDR42E1 (F263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326623	NM_145168.3(SDR42E1):c.778G>C (p.Val260Leu)	SDR42E1 (V260L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159072	NM_145168.3(SDR42E1):c.745G>A (p.Gly249Arg)	SDR42E1 (G249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616560	NM_145168.3(SDR42E1):c.733C>T (p.His245Tyr)	SDR42E1 (H245Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316993	NM_145168.3(SDR42E1):c.727A>G (p.Lys243Glu)	SDR42E1 (K243E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251905	NM_145168.3(SDR42E1):c.652A>G (p.Ser218Gly)	SDR42E1 (S218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316994	NM_145168.3(SDR42E1):c.649A>G (p.Arg217Gly)	SDR42E1 (R217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556546	NM_145168.3(SDR42E1):c.643G>T (p.Asp215Tyr)	SDR42E1 (D215Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159071	NM_145168.3(SDR42E1):c.634G>A (p.Val212Ile)	SDR42E1 (V212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531335	NM_145168.3(SDR42E1):c.611T>C (p.Ile204Thr)	SDR42E1 (I204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159070	NM_145168.3(SDR42E1):c.501T>G (p.Asn167Lys)	SDR42E1 (N167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159069	NM_145168.3(SDR42E1):c.436C>A (p.His146Asn)	SDR42E1 (H146N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512771	NM_145168.3(SDR42E1):c.425A>G (p.Tyr142Cys)	SDR42E1 (Y142C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597295	NM_145168.3(SDR42E1):c.353T>C (p.Leu118Ser)	SDR42E1 (L118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511665	NM_145168.3(SDR42E1):c.302G>C (p.Arg101Thr)	SDR42E1 (R101T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394044	NM_145168.3(SDR42E1):c.275G>A (p.Arg92Gln)	SDR42E1 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273775	NM_145168.3(SDR42E1):c.250A>G (p.Met84Val)	SDR42E1 (M84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210491	NM_145168.3(SDR42E1):c.239C>T (p.Ala80Val)	SDR42E1 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333246	NM_145168.3(SDR42E1):c.231C>G (p.Phe77Leu)	SDR42E1 (F77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159068	NM_145168.3(SDR42E1):c.214G>C (p.Asp72His)	SDR42E1 (D72H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159067	NM_145168.3(SDR42E1):c.190G>A (p.Val64Ile)	SDR42E1 (V64I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466440	NM_145168.3(SDR42E1):c.176G>A (p.Arg59His)	SDR42E1 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409564	NM_145168.3(SDR42E1):c.175C>T (p.Arg59Cys)	SDR42E1 (R59C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316995	NM_145168.3(SDR42E1):c.23A>C (p.Lys8Thr)	SDR42E1 (K8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 60059	GRCh38/hg38 16q23.3(chr16:82000870-82705128)x3	CDH13, HSD17B2 +24 more	Copy number gain	See cases	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979480	GRCh37/hg19 16q23.3(chr16:82019507-82180338)x1	HSD17B2, SDR42E1	Copy number loss	not provided	GUncertain significance
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815854	GRCh37/hg19 16q23.3(chr16:81983037-83067299)x3	CDH13, HSD17B2 +4 more	Copy number gain	not provided	GLikely benign
Select item 815853	GRCh37/hg19 16q23.3(chr16:81982623-82831574)x3	CDH13, HSD17B2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	CDYL2, CENPN +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 687762	GRCh37/hg19 16q23.3(chr16:82007552-82514962)x3	HSD17B2, MPHOSPH6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 624509	GRCh37/hg19 16q23.3(chr16:82021894-82166460)x1	HSD17B2, SDR42E1	Copy number loss	not provided	GLikely benign
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441621	GRCh37/hg19 16q23.3(chr16:81981647-82836348)x3	CDH13, HSD17B2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394737	GRCh37/hg19 16q23.3(chr16:82029122-82128834)x1	HSD17B2, SDR42E1	Copy number loss	See cases	GUncertain significance
Select item 268189	GRCh37/hg19 16q23.3(chr16:81838176-82450270)x3	PLCG2, HSD17B2 +2 more	Copy number gain	not provided	GLikely benign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

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Items: 88