ClinVar for Gene (Select 55625) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334276	NM_017740.3(ZDHHC7):c.902A>G (p.Lys301Arg)	LOC126862430, ZDHHC7 (K301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3192776	NM_017740.3(ZDHHC7):c.869T>A (p.Phe290Tyr)	LOC126862430, ZDHHC7 (F327Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192775	NM_017740.3(ZDHHC7):c.863T>C (p.Val288Ala)	LOC126862430, ZDHHC7 (V325A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192773	NM_017740.3(ZDHHC7):c.791G>A (p.Arg264Gln)	LOC126862430, ZDHHC7 (R301Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192772	NM_017740.3(ZDHHC7):c.57A>T (p.Glu19Asp)	ZDHHC7 (E19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192771	NM_017740.3(ZDHHC7):c.341C>T (p.Thr114Met)	ZDHHC7 (T114M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192770	NM_017740.3(ZDHHC7):c.44C>G (p.Pro15Arg)	ZDHHC7 (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192769	NM_017740.3(ZDHHC7):c.332G>A (p.Gly111Glu)	ZDHHC7 (G111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192768	NM_017740.3(ZDHHC7):c.255C>G (p.Ile85Met)	ZDHHC7 (I85M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192767	NM_017740.3(ZDHHC7):c.247G>A (p.Gly83Arg)	ZDHHC7 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192766	NM_017740.3(ZDHHC7):c.236C>G (p.Ser79Cys)	ZDHHC7 (S79C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192765	NM_017740.3(ZDHHC7):c.127C>T (p.Arg43Cys)	ZDHHC7 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192764	NM_017740.3(ZDHHC7):c.911C>G (p.Pro304Arg)	LOC126862430, ZDHHC7 (P304R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685585	GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1	C16orf74, C16orf95 +25 more	Copy number loss	not provided	GPathogenic
Select item 2614193	NM_017740.3(ZDHHC7):c.836C>T (p.Pro279Leu)	LOC126862430, ZDHHC7 (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548304	NM_017740.3(ZDHHC7):c.448A>G (p.Lys150Glu)	ZDHHC7 (K150E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543952	NM_017740.3(ZDHHC7):c.133G>A (p.Gly45Ser)	ZDHHC7 (G45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538510	NM_017740.3(ZDHHC7):c.427G>T (p.Ala143Ser)	ZDHHC7 (A180S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537948	NM_017740.3(ZDHHC7):c.832C>T (p.Pro278Ser)	LOC126862430, ZDHHC7 (P315S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465020	NM_017740.3(ZDHHC7):c.611A>T (p.Gln204Leu)	ZDHHC7 (Q241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464535	NM_017740.3(ZDHHC7):c.18C>G (p.His6Gln)	ZDHHC7 (H6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393675	NM_017740.3(ZDHHC7):c.113G>A (p.Arg38Gln)	ZDHHC7 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319433	NM_017740.3(ZDHHC7):c.200T>A (p.Phe67Tyr)	ZDHHC7 (F67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286253	NM_017740.3(ZDHHC7):c.789G>T (p.Glu263Asp)	LOC126862430, ZDHHC7 (E263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258725	NM_017740.3(ZDHHC7):c.112C>T (p.Arg38Trp)	ZDHHC7 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213791	NM_017740.3(ZDHHC7):c.103G>A (p.Val35Met)	ZDHHC7 (V35M)	Single nucleotide variant (missense variant)	not specified	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 1526539	GRCh37/hg19 16q24.1(chr16:84319435-85011988)	WFDC1, ZDHHC7 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526537	GRCh37/hg19 16q23.3-24.1(chr16:84134463-85705611)	HSDL1, ADAD2 +16 more	Copy number loss	not specified	GUncertain significance
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 979481	GRCh37/hg19 16q23.3-24.1(chr16:83866931-85276940)x3	CIBAR2, SLC38A8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 975044	Single allele	ADAD2, DNAAF1 +26 more	Deletion	Alveolar capillary dysplasia with pulmonary venous misalignment	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 815861	GRCh37/hg19 16q24.1(chr16:84815936-86045285)x1	EMC8, CRISPLD2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 813309	GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)	ZCCHC14-DT, ZDHHC7 +20 more	Copy number loss	Alveolar capillary dysplasia with pulmonary venous misalignment	GPathogenic
Select item 687097	GRCh37/hg19 16q24.1(chr16:85038804-85876297)x3	C16orf74, CIBAR2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686655	GRCh37/hg19 16q24.1(chr16:84608098-85087145)x1	COTL1, CRISPLD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 564364	GRCh37/hg19 16q24.1(chr16:84914217-85276861)x1	CRISPLD2, CIBAR2 +2 more	Copy number loss	not provided	GUncertain significance
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 545214	NC_000016.10:g.(?_84593050)_(85516675_?)del	LOC121847997, LOC125177366 +70 more	Deletion	Schizophrenia	GLikely pathogenic
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 443245	GRCh37/hg19 16q24.1(chr16:84776177-85087145)x1	CRISPLD2, KIAA0513 +2 more	Copy number loss	See cases	GLikely benign
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 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442525	GRCh37/hg19 16q24.1(chr16:84885505-85656345)x3	CIBAR2, CRISPLD2 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
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 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 219038	GRCh37/hg19 16q23.3-24.1(chr16:83553094-86098013)x1	ADAD2, ATP2C2 +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
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 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 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 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	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 149753	GRCh38/hg38 16q24.1(chr16:85026633-85843419)x3	C16orf74, CIBAR2 +72 more	Copy number gain	See cases	GLikely benign
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
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 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 147286	GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1	ADAD2, CIBAR2 +203 more	Copy number loss	See cases	GPathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 59519	GRCh38/hg38 16q23.3-24.1(chr16:83016872-85087809)x1	ADAD2, ATP2C2 +106 more	Copy number loss	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 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 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 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 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 57422	GRCh38/hg38 16q23.3-24.2(chr16:83878992-87223838)x1	LOC130059603, LOC130059604 +227 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

ClinVar

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Links from Gene

Items: 83