ClinVar for Gene (Select 130617) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192849	NM_138802.3(ZFAND2B):c.737G>A (p.Ser246Asn)	ZFAND2B (S246N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192848	NM_138802.3(ZFAND2B):c.626C>T (p.Ser209Phe)	ZFAND2B (S165F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2622091	NM_138802.3(ZFAND2B):c.610C>T (p.Arg204Trp)	ZFAND2B (R160W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619898	NM_138802.3(ZFAND2B):c.262C>T (p.Pro88Ser)	ZFAND2B (P88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2540165	NM_138802.3(ZFAND2B):c.304C>T (p.Arg102Cys)	ZFAND2B (R58C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495924	NM_138802.3(ZFAND2B):c.317G>A (p.Arg106Gln)	ZFAND2B (R106Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495194	NM_138802.3(ZFAND2B):c.61C>A (p.Leu21Met)	ZFAND2B (L21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456905	NM_138802.3(ZFAND2B):c.358C>G (p.Arg120Gly)	ZFAND2B (R120G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412482	NM_138802.3(ZFAND2B):c.740G>A (p.Arg247His)	ZFAND2B (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400752	NM_138802.3(ZFAND2B):c.427C>T (p.Arg143Trp)	ZFAND2B (R143W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316175	NM_138802.3(ZFAND2B):c.190G>A (p.Val64Met)	ZFAND2B (V64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297834	NM_138802.3(ZFAND2B):c.278G>A (p.Arg93His)	ZFAND2B (R93H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290510	NM_138802.3(ZFAND2B):c.487A>G (p.Ser163Gly)	ZFAND2B (S119G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285357	NM_138802.3(ZFAND2B):c.742A>C (p.Ser248Arg)	ZFAND2B (S248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221270	NM_138802.3(ZFAND2B):c.722G>A (p.Arg241Gln)	ZFAND2B (R197Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2219797	NM_138802.3(ZFAND2B):c.293A>G (p.Asn98Ser)	ZFAND2B (N54S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214791	NM_138802.3(ZFAND2B):c.614C>T (p.Ala205Val)	ZFAND2B (A161V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207606	NM_138802.3(ZFAND2B):c.719A>G (p.Gln240Arg)	ZFAND2B (Q196R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526952	GRCh37/hg19 2q35(chr2:218210665-220141650)	AAMP, ABCB6 +42 more	Copy number gain	not specified	GUncertain significance
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	CFAP65, CHPF +50 more	Duplication	Paroxysmal nonkinesigenic dyskinesia +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980008	GRCh37/hg19 2q35(chr2:219797684-220088582)x3	CRYBA2, SLC23A3 +11 more	Copy number gain	not provided	GUncertain significance
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 686962	GRCh37/hg19 2q35(chr2:219879593-220346596)x3	ABCB6, ANKZF1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 583449	NC_000002.11:g.(?_219135239)_(220290732_?)del	PTPRN, RESP18 +39 more	Deletion	Desmin-related myofibrillar myopathy	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	ATG9A, DNPEP +23 more	Deletion	Heart, malformation of +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442382	GRCh37/hg19 2q35(chr2:219275536-220266647)x3	ABCB6, ANKZF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	AAMP, ABCB6 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	OR6B3, OTOS +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52