30696[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 153508	GRCh38/hg38 5q22.1(chr5:110469276-111738442)x1	CAMK4, LOC126807474 +32 more	Copy number loss	See cases	GUncertain significance
Select item 59447	GRCh38/hg38 5q22.1(chr5:110564896-111731572)x3	CAMK4, LOC126807474 +31 more	Copy number gain	See cases	GUncertain significance
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 1278340	NC_000005.10:g.111092054A>G	WDR36	Single nucleotide variant	not provided	GBenign
Select item 1237480	NC_000005.10:g.111092097C>T	WDR36	Single nucleotide variant	not provided	GBenign
Select item 424172	NM_139281.2(WDR36):c.5G>A (p.Cys2Tyr)	LOC129994346, WDR36	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350296	NC_000005.10:g.111092339G>A	WDR36, LOC129994346	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 350297	NM_139281.3(WDR36):c.-95T>C	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3372392	NM_139281.3(WDR36):c.-81G>T	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1426930	NM_139281.3(WDR36):c.-78C>A	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 262467	NM_139281.3(WDR36):c.-70C>G	LOC129994346, WDR36 (D33E)	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +2 more	GConflicting classifications of pathogenicity
Select item 2055749	NM_139281.3(WDR36):c.-62A>C	LOC129994346, WDR36	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2595311	NM_139281.3(WDR36):c.7C>T (p.Arg3Trp)	LOC129994346, WDR36 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352163	NM_139281.3(WDR36):c.26C>A (p.Thr9Lys)	LOC129994346, WDR36 (T9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355088	NM_139281.3(WDR36):c.53G>T (p.Arg18Leu)	LOC129994346, WDR36 (R18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355089	NM_139281.3(WDR36):c.55G>C (p.Ala19Pro)	LOC129994346, WDR36 (A19P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190000	NM_139281.3(WDR36):c.76G>A (p.Asp26Asn)	LOC129994346, WDR36 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190002	NM_139281.3(WDR36):c.88G>T (p.Val30Leu)	LOC129994346, WDR36 (V30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623421	NM_139281.3(WDR36):c.111G>T (p.Lys37Asn)	LOC129994346, WDR36 (K93N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201679	NM_139281.3(WDR36):c.115C>G (p.Arg39Gly)	LOC129994346, WDR36 (R39G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621869	NM_139281.3(WDR36):c.154A>G (p.Thr52Ala)	LOC129994346, WDR36 (T52A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1433828	NM_139281.3(WDR36):c.155C>T (p.Thr52Ile)	LOC129994346, WDR36 (T52I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2551721	NM_139281.3(WDR36):c.158A>T (p.Tyr53Phe)	LOC129994346, WDR36 (Y53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1257862	NM_139281.3(WDR36):c.163-264A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 350301	NM_139281.3(WDR36):c.163-7dup	WDR36	Duplication (intron variant)	Primary open angle glaucoma +1 more	GBenign/Likely benign
Select item 350303	NM_139281.3(WDR36):c.208G>A (p.Asp70Asn)	WDR36 (D126N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511896	NM_139281.3(WDR36):c.223G>A (p.Ala75Thr)	WDR36 (A75T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1397802	NM_139281.3(WDR36):c.224C>T (p.Ala75Val)	WDR36 (A75V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571445	NM_139281.3(WDR36):c.234C>T (p.Gly78=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3365418	NM_139281.3(WDR36):c.244T>A (p.Phe82Ile)	WDR36 (F82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260106	NM_139281.3(WDR36):c.255T>C (p.Tyr85=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1911316	NM_139281.3(WDR36):c.260A>G (p.Asn87Ser)	WDR36 (N87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1222031	NM_139281.3(WDR36):c.291+209A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269375	NM_139281.3(WDR36):c.291+221A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231701	NM_139281.3(WDR36):c.292-159T>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296529	NM_139281.3(WDR36):c.292-127A>C	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232721	NM_139281.3(WDR36):c.292-113G>A	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3190003	NM_139281.3(WDR36):c.299A>G (p.His100Arg)	WDR36 (H100R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190004	NM_139281.3(WDR36):c.310G>A (p.Gly104Ser)	WDR36 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1599814	NM_139281.3(WDR36):c.320C>T (p.Ala107Val)	WDR36 (A107V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3057998	NM_139281.3(WDR36):c.334T>C (p.Leu112=)	WDR36	Single nucleotide variant (synonymous variant)	WDR36-related disorder	GLikely benign
Select item 3190005	NM_139281.3(WDR36):c.352C>A (p.His118Asn)	WDR36 (H118N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1208379	NM_139281.3(WDR36):c.409+67A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228560	NM_139281.3(WDR36):c.410-150=	WDR36	Deletion (intron variant)	not provided	GBenign
Select item 1632800	NM_139281.3(WDR36):c.410-19A>C	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600036	NM_139281.3(WDR36):c.423G>A (p.Gln141=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1601460	NM_139281.3(WDR36):c.467_468delinsCC (p.His156Pro)	WDR36 (H156P)	Indel (missense variant)	not provided	GBenign
Select item 1254559	NM_139281.3(WDR36):c.467A>C (p.His156Pro)	WDR36 (H156P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1254929	NM_139281.3(WDR36):c.468T>C (p.His156=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1313467	NM_139281.3(WDR36):c.488A>C (p.Lys163Thr)	WDR36 (K163T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2620403	NM_139281.3(WDR36):c.520C>G (p.Gln174Glu)	WDR36 (Q174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684227	NM_139281.3(WDR36):c.542+30C>T	WDR36	Single nucleotide variant (intron variant)	Glaucoma 1, open angle, G	GBenign
Select item 1253482	NM_139281.3(WDR36):c.543-215dup	WDR36	Duplication (intron variant)	not provided	GBenign
Select item 1281113	NM_139281.3(WDR36):c.543-31dup	WDR36	Duplication (intron variant)	Glaucoma 1, open angle, G +1 more	GBenign
Select item 2402927	NM_139281.3(WDR36):c.544A>G (p.Lys182Glu)	WDR36 (K182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261910	NM_139281.3(WDR36):c.559T>A (p.Phe187Ile)	WDR36 (F187I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265088	NM_139281.3(WDR36):c.597+259A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296701	NM_139281.3(WDR36):c.598-245G>A	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208545	NM_139281.3(WDR36):c.598-221C>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2253126	NM_139281.3(WDR36):c.607G>A (p.Val203Met)	WDR36 (V203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 262466	NM_139281.3(WDR36):c.622A>G (p.Ile208Val)	WDR36 (I264V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2280692	NM_139281.3(WDR36):c.652C>T (p.His218Tyr)	WDR36 (H218Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515305	NM_139281.3(WDR36):c.686T>G (p.Phe229Cys)	WDR36 (F229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548349	NM_139281.3(WDR36):c.689G>A (p.Arg230His)	WDR36 (R230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1303975	NM_139281.3(WDR36):c.699G>A (p.Trp233Ter)	WDR36 (W233*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2905720	NM_139281.3(WDR36):c.725G>A (p.Arg242His)	WDR36 (R242H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209373	NM_139281.3(WDR36):c.731-39T>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3190006	NM_139281.3(WDR36):c.773T>C (p.Ile258Thr)	WDR36 (I258T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477435	NM_139281.3(WDR36):c.786T>G (p.Asp262Glu)	WDR36 (D262E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189993	NM_139281.3(WDR36):c.844G>A (p.Gly282Arg)	WDR36 (G282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189994	NM_139281.3(WDR36):c.847C>A (p.Leu283Met)	WDR36 (L283M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2144296	NM_139281.3(WDR36):c.858C>T (p.Leu286=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054896	NM_139281.3(WDR36):c.888C>T (p.Gly296=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1685213	NM_139281.3(WDR36):c.889G>T (p.Ala297Ser)	WDR36 (A297S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1581	NM_139281.3(WDR36):c.896A>G (p.Asn299Ser)	WDR36 (N299S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, G +1 more	GConflicting classifications of pathogenicity
Select item 1182933	NM_139281.3(WDR36):c.907-78T>C	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1987564	NM_139281.3(WDR36):c.907-18G>A	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768024	NM_139281.3(WDR36):c.907-8C>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3052470	NM_139281.3(WDR36):c.942A>G (p.Arg314=)	WDR36	Single nucleotide variant (synonymous variant)	WDR36-related disorder	GLikely benign
Select item 3189995	NM_139281.3(WDR36):c.952T>C (p.Phe318Leu)	WDR36 (F318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390953	NM_139281.3(WDR36):c.977T>C (p.Leu326Pro)	WDR36 (L326P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286440	NM_139281.3(WDR36):c.1027+31T>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1804476	NM_139281.3(WDR36):c.1027+87_1027+88insG	WDR36	Insertion (intron variant)	not provided	GLikely benign
Select item 1974500	NM_139281.3(WDR36):c.1028-18T>C	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051294	NM_139281.3(WDR36):c.1059G>A (p.Thr353=)	WDR36	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2366664	NM_139281.3(WDR36):c.1078A>C (p.Lys360Gln)	WDR36 (K360Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706769	NM_139281.3(WDR36):c.1093+200A>G	WDR36	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291929	NM_139281.3(WDR36):c.1093+227C>G	WDR36	Single nucleotide variant (intron variant)	not provided	GBenign

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